{"paper_id":"734e4905-380f-4a27-9041-6ae66f0c6887","body_text":"Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Help Center Sign In Submit a Preprint Cite Share Download PDF Article Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies Huafeng Li, Juan Hu, Qingyu Wu, Jigang Qiu, Li Zhang, Jinping Zhu This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-3810641/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 13 You are reading this latest preprint version Abstract With the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the population of high-risk pregnancies is gradually increasing. In this study, 4,211 pregnant women who underwent chromosomal microarray analysis(CMA) for high-risk indications were analyzed. The results showed that the overall prenatal detection rate of CMA was 11.4%(480/4211), among which the abnormal chromosome number was 5.82%(245/4211), copy number variants༈CNVs༉was 5.58%༈235/4211༉. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 3.78% (235/4211) and 1.8% (76/4211) for variants of uncertain significance. The detection rate of abnormal chromosomes for pregnant women with AMA was 6.42%༈30/467༉, 6.01%༈50/832༉with high-risk MSS, 39.09%༈224/573༉with high-risk NIPT, 9.21%༈127/1379༉with abnormal ultrasound, and 5.1%༈49/960༉ with other indications. During follow-up, of the 4211 fetuses, 3677 fetuses (3677/4211,87.32%) were normal after birth, 462 fetuses (462/4211,10.97%) were terminated pregnancy, 51 (51/4211,1.21%) fetuses were abnormal after birth, and 21 (21/4211,0.50%) fetuses refused follow-up. These findings indicate that the diagnostic rate of CMA varies significantly among different indications, and can serve as a guide for clinicians to evaluate the application range of CMA technology in prenatal diagnosis. Biological sciences/Genetics Biological sciences/Molecular biology/Chromosomes Figures Figure 1 Introduction China is a populous country and a country with birth defects. According to the ' China Birth Defects Prevention and Control Report ( 2012 ) ' released by the Ministry of Health in September 2012, the incidence of birth defects in China is about 5.6%. In addition to traditional chromosomal aneuploidy abnormalities, chromosome microdeletion or microduplication syndrome has also become a large category of birth defects. The diagnostic rate of CMA for chromosomal abnormalities is higher than that of traditional G-banding karyotype analysis. Many studies use CMA to detect microdeletions and microduplications in high-risk pregnancies. Microdeletion and microduplication syndrome can be diagnosed by CMA in prenatal diagnosis, which is of positive significance for the prevention of birth defects. The indications for invasive prenatal diagnosis mainly included abnormal ultrasound, high-risk maternal serum screening (MSS), high-risk non-invasive prenatal testing (NIPT), advanced maternal age(AMA), intrauterine growth retardation, history of adverse pregnancy or family history, maternal request, in vitro fertilization, drug use or exposure to toxic substances during pregnancy, consanguineous marriage, and parental anxiety. Since 2009, the United States, Europe, Canada and other developed countries have successively used chromosome chips as the first-line prenatal diagnosis and detection method for prenatal ultrasonic structural malformation detection 1,2,3 . So far, many studies have been published to evaluate the performance of CMA in prenatal diagnosis 4,5,6 . The incidence of pathogenic CNV in the fetus with abnormal ultrasound can be further refined by the organ system involved and the number of abnormalities observed. The most common organ systems related to abnormal CMA results are the heart, bone, genitourinary system and central nervous system 7,8,9,10 . However, little is known about the incidence of clinically significant CNV in fetuses with structural abnormalities of the anatomical systems or ultrasound soft marker abnormalities. In addition, for pregnant women who choose invasive prenatal diagnosis because of other indications, such as AMA, abnormal MSS and abnormal NIPT results, there is little information about the diagnostic benefits of whole chromosome microarray 11 . Given China's large population, vast territory, and uneven economic development level, a detailed understanding of the application of CMA detection technology in specific regions in prenatal high-risk groups will help to strengthen the popularization of this technology and government support policies. Therefore, we comprehensively and systematically analyzed the CMA test results of 4211 prenatal high-risk groups to determine the incidence of CMA abnormalities detected in different indications, so as to guide clinicians to evaluate the scope of CMA technology applied to prenatal diagnosis and prevent birth defects. Results Demographic data. From April 2016 to December 2022, 4211 women underwent invasive prenatal genetic diagnosis in our center. Among them, 169 cases (169/4211,4%) underwent chorionic villus and 4042 cases (4042/4211,96%) underwent amniocentesis. Clinical indications include only advanced maternal age (467/4211,11.09%), high-risk maternal serum screening (832/4211, 19.76%), high risk of NIPT (573/4211,13.6%), abnormal ultrasound (1379/4211, 32.75%) and other indications(960/4211,22.80%), such as intrauterine growth retardation, history of adverse pregnancy or family history, maternal request, in vitro fertilization, drug use or exposure to toxic substances during pregnancy, consanguineous marriage, and parental anxiety. The mean gestational age was 12 weeks (11-13) for chorionic villus and 20 weeks (16-30) for amniocentesis. Table 1 CMA results of 4211 cases with different indications for prenatal diagnosis Subgroups Total Normal Abnormal Common Autosomal Aneuploidies Rare Autosomal Aneuploidy Sex Chromosome Aneuploidy CNVs（P/LP) CNVs(VUS) T21 T18 T13 AMA- only 467(11.09%) 437(93.58%) 30(6.42%) 6(1.28%) 2(0.43%) 2(0.43%) 11(2.35%) 9(1.93%) Abnormal MSS 832(19.76%) 782(94.00%) 50(6.00%) 6(0.72%) 5(0.6%) 2(0.24%) 3(0.36%) 21(2.52%) 13(1.56%) Abnormal NIPT 573(13.60%) 349(60.91%) 224(39.09%)*** 16(2.79%) 3(0.53%) 2(0.35%) 7(1.22%) 122(21.29%) 49(8.55%) 25(4.36%) Abnormal ultrasound 1379(32.75%) 1252(90.79%） 127(9.21%) 34(2.47%) 17(1.23%) 1(0.07%) 1(0.07%) 8（0.58%） 49(3.55%) 17(1.24%) Others 960(22.80%) 911(94.90%) 49(5.10%) 3(0.31%) 2(0.21%) 1(0.1%) 2（0.21%） 29(3.02%) 12(1.25%) Total 4211 3731(88.6%) 480(11.4%) 65(1.54%) 29(0.69%) 3(0.07%) 12(0.29%) 136（3.23%） 159(3.78%) 76(1.8%) ***The significance is at the p < 0.001 level. From April 2016 to December 2022, a total of 4211 samples were analyzed by whole chromosome microarray, and the results of 480 samples were abnormal (480/4211,11.4%), including 245 cases of chromosomal numerical abnormality (245/4211, 5.82%) and 235 cases of CNVs abnormality (235/4211)（(see Table 1 and Figure 1). Among 245 cases of chromosomal numerical abnormality, 65 cases were trisomy 21 (65/4211, 1.54%), trisomy 18 (29/4211,0.69%) and trisomy 13 (3/4211,0.07%). 7 cases of rare autosomal abnormalities, including 3 cases of trisomy 2, 2 cases of trisomy 9, 1 case of trisomy 16, 1 case of trisomy 22, 1 case of trisomy 4 and 1 case of trisomy 13. There were 136 cases (136/4211,3.23%) of sex chromosome aneuploidy. 64 cases (64/235,27.2%) of parents were analyzed by CMA, ）of which 47 cases (47/235,20%) were parental inheritance and 17 cases (17/235,7.2%) were de novo mutation. Of the 235 CNV abnormalities, 159 cases (159/4211,3.78%) were P/LP (See Schedule 1), and 76 cases (76/4211,1.80%) were VUS (See Schedule 2). In different clinical diagnosis group, Rate of abnormal diagnosis in abnormal NIPT is significantly higher than that in the other four clinical indication groups (P<0.001). Rate of abnormal diagnosis in abnormal ultrasound is significantly higher than others(9.21% vs 5.10%,P< 0.001). There was no significant difference between the other two groups(p>0.05). AMA only . The pregnant women in this group are only over 35 years old and have no other indications, with an average age of 39.3 years (35-53 years old). There were 30 cases (30/467, 6.42%) of chromosomal abnormality detected by CMA, including 10 cases of aneuploidy (10/467, 2.14%) and 20 cases of CNV abnormalities (20/467, 4.28%). 467 AMA patients were divided into three subgroups according to maternal age (see Table 2), and the relationship between maternal age and chromosomal abnormality rate was analyzed. The aneuploidy rate was positively correlated with increasing age, while CNVs did not have this growth trend. Table 2 CMA results of 467 pregnant women with only AMA Subgroups 35-39 40-44 ≥45 gamma value P Normal 229(93.85%) 182(93.33%) 26(92.86%） - - Abnormal 15(6.15%) 13(6.67%) 2(7.14%） 0.047 0.866 Aneuploidy 3(1.23%) 6(3.08%) 1(3.57%) 0.392 0.289 CNVs(P/LP) 7(2.87%) 4(2.05%) 0(0%) -0.26 0.878 CNVs(VUS) 5(2.05%) 3(1.53%) 1(3.57%) -0.009 0.608 Abnormal MSS results. The center screened the serum of pregnant women in the second trimester by detecting the levels of AFP and free β-HCG. 832 cases of abnormal MSS were analyzed by CMA, and 50 cases (50/832, 6.00%) were abnormal, including 16 cases of aneuploidy (16/832, 1.92%) and 34 cases of CNVs (34/832,4.08%). 832 cases with abnormal MSS were divided into three subgroups according to risk types: 721 cases with high risk of trisomy 21 syndrome (721/832, 86.66%), 28 cases with high risk of trisomy 18 syndrome (28/832, 3.36%) and 83 cases with intermediate risk of trisomy 21 syndrome (83/832, 9.98%). Among them, 6 cases were trisomy 21 syndrome, all of which were high risk of 21 trisomy syndrome. There were 5 cases of trisomy 18, of which 4 cases showed high risk of trisomy 21 syndrome and 1 case showed high risk of trisomy 18 syndrome (see Table 3). There are 2 cases of rare autosomal aneuploidy, one 1 case of trisomy 4 mosaicism and 1 case of trisomy 16 mosaicism. Table 3 CMA results of 832 pregnant women with abnormal MSS Subgroups Total Normal Abnormal T21 T18 Sex Chromosome Aneuploidy Rare Autosomal Aneuploidy CNVs(P/LP) CNVs(VUS) High risk of trisomy 21 syndrome（≥1/270) 721(86.66%) 678(94.04%) 43(5.96%） 6(0.83%) 4(0.55%) 2(0.28%) 2(0.28%) 19(2.63%) 10(1.39%) High risk of trisomy 18 syndrome(≥1/350） 28(3.36%) 25(89.29%) 3(10.71%) 1(3.57%) 1(3.57%) 1(3.57%) Intermediate risk of trisomy 21 syndrome（1/270-1/1000） 83(9.98%) 79(95.18%) 4(4.82%) 2(2.41%) 2(2.41%) total 832 782(94.00%) 50(6.00%) 6(0.72%) 5(0.60%) 3(0.36%) 2(0.24%) 21(2.52%) 13(1.56%) Abnormal NIPT results. We used CMA to evaluate 573 cases of NIPT abnormalities (including chromosomal aneuploidy and CNVs detected by NIPT) A total of 224 cases of chromosomal abnormalities were detected (224 / 573,39.09 % ), including 159 cases of aneuploidy ( 150 / 573,26.18 % ), 7 cases of ROH ( 7 / 573,1.22 % ), and 67 cases of CNVs ( 67 / 573,11.69 % ). The 573 cases with abnormal NIPT results were divided into 5 subgroups according to different chromosomal abnormalities. In the abnormal chr21 group, there were 16 cases of trisomy 21 and 1 case of CNVs among the 23 high-risk populations with trisomy 21. In the abnormal chr18 group, there were 3 cases of trisomy 18 and 8 cases of CNVs among 22 high-risk populations with trisomy 18. In the abnormal chr13 group, there were 3 cases of trisomy 13 and 3 cases of CNVs among 12 high-risk populations with trisomy 13 Among 235 cases with high risk of other autosomal abnormalities, 54 cases (54/235,23.0%) were detected, including 6 cases of aneuploidy (6/235, 2.55%), including 1 case of trisomy 16 mosaicism, 1 case of trisomy 22 mosaicism, 3 cases of trisomy 2 mosaicism, 1 case of trisomy 9 mosaicism, 6 cases of ROH ( 6 / 235,2.55 % ), 42 cases of CNVs ( 42 / 235,17.87 % ). Among 281 cases of sex chromosome abnormality, 122 cases of sex chromosomal aneuploidy, 1 case of ROH and 13 cases of CNVs were confirmed by CMA. (see Table 4). In addition, the positive diagnosis rate of chr21 was significantly higher than that of other autosomal abnormalities (73.9% vs 22.98%, p < 0.001), and the positive diagnosis rate of sex chromosome abnormality was also significantly higher than that of other autosomal abnormalities (48.04% vs 22.98%, p < 0.001). Table 4 CMA results of 573 pregnant women with abnormal NIPT Subgroups Total Normal Abnormal Aneuploidy ROH CNVs(P/LP) CNVs(VUS) T21 23(4.01%) 6(26.09%) 17(73.91%) 16(69.57%) 1(4.35%) T18 22(3.84%) 11(50.00%) 11(50.00%) 3(13.64%) 8(36.36%) T13 12(2.09%) 6(50.00%) 6(50.00%) 3(25.00%) 2(16.67%) 1(8.33%) Other autosomes 235(41.01%) 181(77.02%) 54(22.98%) 6(2.55%) 6(2.55%) 28(11.91%) 14(5.96%) Sex chromosomes 281(49.04%) 145(51.06%) 136(48.04%) 122(43.42%) 1(0.36%) 11(3.91% 2(0.71%) Total 573 349(60.91%) 224(39.09%) 150(26.18%) 7(1.22%) 49(8.55%) 18(3.14%) Abnormal ultrasound. 1379 cases of fetal abnormalities were examined by ultrasound. and 127 cases (127/1379,9.21%) were found by CMA analysis, including 61 cases of chromosomal aneuploidy (61/1379, 4.42%) and 66 cases of CNV abnormalities (66/1379,4.79%). According to the characteristics of ultrasound, 1379 cases of ultrasound abnormalities were divided into five subgroups. multiple (more than two ) structural abnormalities in 27 cases (1.96 %, 27 / 1379), single system structural abnormalities in 447 cases (32.41 %,447 / 1379 ), single ultrasound soft marker abnormalities in 774 cases (56.13 %, 774 / 1379 ), multiple ( more than two ) ultrasound soft marker abnormalities in 70 cases (5.08 %, 72 / 1379), structural abnormalities combined with soft marker abnormalities in 61 cases (4.42 %,61 / 1379 ). In general, the chromosomal abnormality rate of multi-system structural abnormalities group was the highest (18.52%5/27), followed by structural abnormality combined with ultrasound soft marker abnormality group (16.39%,10/61), multiple ultrasound soft marker groups(10%,7/70)and single ultrasound soft marker abnormality group (75/779,9.69%). In the subgroup of single-system structural abnormalities, cardiovascular system abnormalities were the most common (39.15 %, 175 / 447), and CMA detected 5.71 % (10 / 175) of chromosomal abnormalities. The second was Genito-urinary system abnormalities (91 / 447,20.35 %), CMA detected 5.49 % ( 5 / 91 ) of chromosomal abnormalities. In this study, the detection rate of chromosomal abnormalities in the Musculoskeletal system was the highest (19.05 %, 4 / 21 ), followed by Central nervous system abnormalities ( 15.15 %, 5 / 33 ).In the subgroup of single ultrasound soft marker abnormality, the most common abnormality is thickened nuchal translucency (29.07%,225/774), chromosome abnormality accounted for 18.22 % ( 41 / 225 ), followed by Choroid plexus cyst ( 16.41 %, 127 / 774 ), chromosome abnormality accounted for 7.09 % ( 9 / 127 ). However, in this study, the detection rate of chromosomal abnormalities with Renal echogenicity enhancement was the highest (28.57 %, 2 / 7 ), followed by nuchal cystic hygroma ( 22.22 %, 8 / 36 ) ( see Table 5 ). Table 5 CMA results of 1379 pregnant women with ultrasound abnormalities Subgroups Total Normal Abnormal Common Autosomal Aneuploidies Sex Chromosome Aneuploidy Rare Autosomal Aneuploidy CNVs（P/LP) CNVs (VUS) T21 T18 T13 Abnormality of a single ultrasonic soft marker 774(56.13%) 699(90.31%) 75(9.69% ) 26(3.36%) 10(1.29%) 1(0.13%) 5(0.65%) 1(0.13%) 24(3.10%) 8(1.03%) Thickened nuchal translucency 225(16.32%) 184(81.78%) 41(18.22%) 16(7.11%) 6(2.67%) 1(0.44%) 2(0.89%) 12(5.93%) 4(1.78%) Aplasia/Hypoplasia of the nasal bone 29(2.10%) 28(96.55%) 1(3.45%) 1(3.45%) Intracardiac echogenic focus 48(3.48%) 48(100%) Persistent left superior vena cava 12(0.87%) 12(100%) Ventriculomegaly 104(7.54%) 97(93.27%) 7(6.73%) 4(3.85%) 2(1.92%) 1(0.96%) Single umbilical artery 29(2.10%) 27(93.10%) 2(6.90%) 1(3.45%) 1(3.45%) Choroid plexus cyst 127(9.21%) 118(92.91%) 9(7.09%) 2(1.57%) 3(2.36%) 3(2.36%) 1(0.79%) Echogenic bowel 45(3.26%) 44(97.78%) 1(2.22%) 1(2.22%) Enlarged posterior fossa 14(1.02%) 14(100%) Renal echogenicity enhancement 7(0.51%) 5(71.43%) 2(28.57%) 2(28.57%) Polyhydramnios 38(2.76%) 37(97.37%) 1(2.63%) 1(2.67%) Oligohydramnios 10(0.73%) 9(90.00%) 1(10.00%) 1(10%) Nuchal cystic hygroma 36(2.61%) 28(77.78%) 8(22.22%) 4(11.11%) 1(2.78%) 3(8.33%) Aberrant subclavian artery 50(3.63%) 48(96.00%) 2(4.00%) 2(4.00%) Abnormality of multiple ultrasonic soft markers 70(5.08%) 63(90.00%) 7(10.00%) 1(1.43%) 2(2.86%) 3(4.29%) 1(1.43%) Structural anomaly in a single system 447(32.41%) 417(93.29%) 30 ( 6.71% ) 4(0.90%) 2(0.45%) 1(0.22%) 15(3.35%) 8(1.79%) Cardiovascular system 175(12.69%) 165(94.29%) 10(5.71%) 2(1.14%) 6(3.43%) 2(1.14%) Musculoskeletal system 21(1.52%) 17(80.95%) 4(19.05%) 1(4.76%) 2(9.52%) 1(4.76%) Pleural abnormalities 46(3.34%) 46(100%) Genito-urinary system 91(6.60%) 86(94.51%) 5(5.49%) 2(2.20%) 3(3.30%) Abdominal abnormalities 49(3.55%) 43(87.76%) 6(12.24%) 2(4.08%) 1(2.04%) 2(4.08%) 1(2.04%) Faciocervical system 13(0.94%) 13(100%） Vascular malformations 7(0.51%) 7（100%） Central nervous system 33(2.39%) 28(84.85%) 5(15.15%) 1(3.03%) 3(9.09%) 1(3.03%) Sacrococcygeal teratoma 12(0.87%) 12(100%) Structural anomaly in multiple systems 27(1.96%) 22(81.48%) 5 ( 18.52% ) 1(3.70%) 2(7.41%) 2(7.41%) Structural anomaly combined with soft marker abnormalities 61(4.42%) 51(83.61%) 10 ( 16.39% ) 2(3.28%) 3(4.92%) 5(8.20%) Total 1379 1252(90.79%) 127(9.21%) 34(2.47%) 17(1.23%) 1(0.07%) 8(0.58%) 1(0.07%) 49(3.55%) 17(1.24%) Other indications. Other indications of prenatal examination, such as (intrauterine growth retardation, history of adverse pregnancy or family history, maternal request, in vitro fertilization, drug use or exposure to toxic substances during pregnancy, consanguineous marriage, and parental anxiety). Among 960 cases of other indications, CMA results showed that 8 cases (0.83%,8/960) had chromosomal aneuploidy and 41 cases (4.27%,41/960) had CNV abnormalities (see Table 1). Among 960 cases with other indications, there were 633 cases with adverse pregnancy or family history, including 6 cases with chromosome aneuploidy (0.95%,6/633,) and 22 cases with CNVs abnormality (6.47%,22/633). Among 120 cases of intrauterine growth retardation, 5 cases were CNVs(P/LP) and 2 cases were CNVs(VUS). Five cases of CNVs with obvious clinical significance included 1 case of 5q23.2q35.3 duplication with Xq23q28 deletion, 1 case of 16p11.2 deletion syndrome, 2 cases of Wolf-Hirschhorn syndrome and 1case of 13q31.1q32.1 deletion. Detection of ROH by CMA platform . In this study, we used CMA to detect 11 cases of ROH ((see Schedule 2), including 1 case of the whole X chromosome, 1 case of the whole chromosome 4, 2 cases of the long arm fragment of chromosome 15, 1 case of the short arm fragment of chromosome 16, 2 cases of the partial fragment of chromosome 8, 1 case of the short arm fragment of chromosome 5, 1 case of the long arm fragment of chromosome 12 and 8. Pregnancy follow-up outcome. A total of 4211 pregnant women were followed up (see Table 6). Among 3731 pregnant women with normal CMA results, 3568 cases (3568 / 3731,95.63 % ) were normal after birth, and 100 cases were terminated for various reasons (100/3731, 2.68%), Among them, 56 cases were induced by abnormal ultrasound structure, 11 cases were fetal death, 11 cases were accidental abortion, 4 cases were induced by monogenic disease, 5 cases were mosaicism of karyotype results, 4 cases were placental abruption, 9 cases did not want to induce labor for personal reasons. 45 cases (45 / 3731,1.21 %) of fetal abnormalities occurred after birth. The most common abnormality was cardiac structural abnormalities (15 / 45,33.33 %), followed by death after birth (5 / 45,11.11 %).45 cases (45/3731, 1.21%) had fetal abnormalities after birth. The main abnormality was cardiac structural abnormality (15/45, 33.33%), followed by death after birth (5/45, 11.11%). Among the 404 pregnant women with CNVs (P / LP), 332 (332 / 404,82.18 %) terminated pregnancy and 70 (70 / 404,17.33 % ) continued pregnancy. Among them, 65 (65 / 404,16.09 % ) fetuses were normal after birth, and 5 ( 5 / 404,1.24 % ) fetuses were abnormal after birth. These 5 abnormalities included 1 case of post-natal death caused by trisomy 2 mosaicism, 3 cases of ichthyosis, 1 case of atrial septal defect and ventricular septal defect. Among 76 pregnant women with VUS, 30 (30/76,39.47%) chose to terminate their pregnancy, and 45 (45/76,59.21%) chose to continue their pregnancy. Among them, 44 （44/76,57.89%）fetuses were normal after birth, and 1(1/76,1.32%) fetus was abnormal after birth (six fingers in the right hand). Follow-up information of 21 pregnant women was refused, 18 cases had normal CMA results, 2 cases had CNVs(P/LP) results and 1 case had VUS results. Table 6 Follow-up results of 4211 pregnant women tested for CMA CMA results Total Normal child after birth Induced delivery Abnormal child after birth Refuse Normal 3731(88.60%) 3568(95.63%) 100(2.68%) 45(1.21%) 18(0.48%) CNVs(P/LP) 404(9.59%) 65(16.09%） 332(82.18%) 5(1.24%) 2(0.49%) CNVs(VUS) 76(1.81%) 44（57.89%） 30(39.47%) 1(1.32%) 1(1.32%) Total 4211 3677(87.32%) 462(10.97%) 51(1.21%) 21(0.50%) Discussion In this study, we discussed the clinical value of CMA detection technology in prenatal diagnosis of 4211 cases of pregnancy. The abnormal detection rate of CMA was 11.4%, including 5.82% of chromosomal numerical abnormality and 5.58% of CNVs. The CMA detection rate of clinically significant CNVs(P or LP) was 3.73%, which was significantly lower than 7.8% ( 505 / 7400 ) of clinically significant CNVs detected in the previous Dutch 7400 prenatal high-risk population 12 and higher than 2.6% ( 134 / 5000 ) of clinically significant CNVs detected by SNP analysis in 5000 pregnancy cohorts. According to the indications of invasive prenatal examination, they were divided into five groups: AMA only, abnormal MSS results, abnormal NIPT results, abnormal ultrasound and other indications. The detection rate of the abnormal NIPT results group was the highest (39.1%, 224 / 573), followed by the abnormal ultrasound group (9.2%, 127 / 1379), and the detection rate of other indications ( adverse pregnancy history or family history, etc. ) was the lowest ( 5.2%, 50 / 960 ). In the AMA-only group, 2.35%(11/467) of AMA fetal CMA detected clinically significant CNVs, which was similar to 0.8% ~2.0% reported by Fiorentino. et al. 14 and 1.7% reported by Wapner. et al. 15 . The variation of chromosomes may be related to age composition. Our results show that the chromosomal abnormality rate of the 40 ~ 44 age group is significantly higher than that of the 35 ~ 39 age group. With the increase of age, the rate of chromosomal numerical abnormality increases significantly, while the rate of CNVs in AMA fetuses does not have this trend, which is consistent with previous studies 13 . In the abnormal MSS results group, CMA found 2.52%(21/832) of clinically significant CNVs in the fetus with abnormal MSS results, which was significantly higher than that in the previous prospective study, which found 1.55%(17/1094) of clinically significant CNVs in the fetus with abnormal Down syndrome screening results 16 ,and which was also lower than the 3.1% ( 22 / 713 ) clinically significant CNVs detected in the MSS abnormal group reported by Kowalczyk ,K. et al . In the abnormal NIPT results group, CMA found 8.55%(49/573) of clinically significant CNVs in the fetus with the abnormal NIPT results group. In this study, abnormal NIPT results included chromosome aneuploidy and CNVs of all 24 chromosomes detected by NIPT. NIPT has been widely used to detect fetal trisomy 13, 18 and 21 (T13, T18 and T21) and sex chromosome aneuploidy. However, the screening performance of NIPT for other fetal chromosomal aneuploidies and CNVs is still limited. In this study, we only analyzed the cases with abnormal NIPT results, and we did not analyze the cases with normal NIPT results, so it is impossible to specifically evaluate the application of NIPT in high-risk populations. In the ultrasound abnormality group, CMA identified 3.55% ( 49 / 1372 ) of clinically significant CNVs in fetuses with prenatal ultrasound abnormalities, which was significantly lower than the incidence of CNVs with ultrasound abnormalities in a large Chinese population study of 7.9%(389/4918) 17 . In this study, the detection rate of abnormal CMA of single ultrasonic soft markers was 9.69%(75/774) ( 75 / 774 ), the detection rate of multiple ultrasonic markers was 10% ( 7 / 70 ), and the detection rate of single system structure was 6.71% ( 30 / 447 ). The detection rate of multiple system structural abnormalities was 18.52% (5 / 27). Our results were significantly higher than the detection rate of CMA for single ultrasonic soft markers, multiple ultrasound soft markers, single system structural abnormalities, and multiple system structural abnormalities in a Meta-Analysis (2.15%, 3.44%, 3.66%, 8.57%, respectively) 18 . Ultrasound soft markers are common in fetuses with chromosomal abnormalities, including absent nasal bone or dysplasia, thickened nuchal translucency ventriculomegaly, choroid plexus cysts, aberrant subclavian artery, persistent left superior vena cava, intracardiac echogenic focus, renal echogenicity enhancement, polyhydramnios or oligohydramnios, and single umbilical artery 19 . These nonspecific and slight fetal structural changes may be normal and disappear with the progress of pregnancy. but they may also indicate an increased risk of pathogenic CNVs in the fetus. Here, we noted that the incidence of pathogenic or likely pathogenic CNV in fetuses with a single ultrasound soft marker was 3.10%(24/774), but the incidence of pathogenic or likely pathogenic CNVs in fetuses with multiple ultrasound soft markers was 4.29%(3/70). It can be clearly seen that the pathogenic CNVs rate increases with the increase of the number of ultrasound soft markers. It is suggested that CMA should be performed in pregnant women when two or more ultrasound soft markers are detected by ultrasound. In this study, 2 cases of 6p25 deletion syndrome were found, and the clinical puncture indications all suggested thickened nuchal translucency. 3 cases of fetal renal cysts and diabetes syndrome showed enhanced renal echo by prenatal ultrasound. This is consistent with the published literature that the most common pathogenic CNV in fetuses with renal and urinary tract abnormalities is 17q12 microdeletion, which leads to renal cysts and diabetic syndrome. At present, the interpretation of many ultrasound soft markers still needs the evaluation and verification of a large number of clinical data. Previous research showed a small but not statistically significant increase in the probability of clinically relevant CNVs in fetuses with one or more ultrasound soft markers 20 . Consistent with our results, there was no statistically significant difference in the incidence of clinically relevant submicroscopic CNVs between fetuses with one or more ultrasound soft markers and fetuses with multiple ultrasound soft markers (3.10% vs. 4.29%, P = 0.853). The probability of pathogenic CNVs in fetuses with ultrasound structural abnormalities limited to one system is 3.1–7.9%, which depends on the anatomical system. For structural anomalies of multiple systems, the probability of carrying pathogenic CNVs increased to 9.1% 21 . The most common organ systems associated with abnormal CMA results are the heart, kidney, bone, genitourinary system and central nervous system [ 7 – 10 ],and our research results agree with these views. Among the 1379 fetuses with ultrasound structural abnormalities, the overall detection rate of pathogenic CNV with multiple system abnormalities was 7.41%. However, in a single system malformation, the detection rates of CMA for pathogenic CMVs in skeletal, urinary, neurological and cardiovascular malformations were 9.52%, 2.2%, 9.09% and 3.43% respectively. These results show that CMA should be recommended when ultrasound examination shows structural abnormalities of multiple fetal systems, and pregnant women with obvious skeletal, urinary, neurological and cardiac abnormalities. Some pathogenic CNVs are related to specific clinical phenotypes. In this study, 2 cases of Emanuel syndrome were found, CMA results showed 11q23.3q25 region duplication and 22q11.1q11.21 region duplication. Prenatal ultrasound in 1 case showed that the development of a single umbilical artery and cerebellar vermis was small. 1 case suggested posterior fossa malformation, which was the most common defect of ES and might be diagnosed in early pregnancy 22 . The clinical phenotype of patients with 22q11.21 deletion is variable, such as heart defect, palatal abnormality, developmental retardation and immunodeficiency. In this study, 2 fetuses with 22q11.2 proximal deletion were found to have cardiac defects,1 case showed the right foot varus and left ventricular punctate strong echo, and the other showed right aortic arch. 22q11.2 deletion is often found in fetuses with prenatal heart defects 23 . Therefore, CMA can be used as a detection method of prenatal echocardiography abnormalities. Some recurrent microdeletion/duplication syndromes lead to incompletely dominant and variable expression phenotypes, and the penetrance rate is generally between 10–40% 24,25 . The penetrance rate of 1q21.1 deletion syndrome was 37–40%. In this study, 10 cases were found, only2 cases had ultrasound abnormalities, 1 case had persistent left superior vena cava and 1 case had microcephaly. Among other fetuses, 6 fetuses terminated pregnancy, and 4 fetuses were normal after birth. The penetrance rate of 16p13.11 deletion syndrome (including MYH11) was about 12.3%.4 cases were found Among them, 1 case showed NT thickening, 1 case showed high risk of NIPT result, and 2 cases were normal after birth. The penetrance rate of 15q11.2 deletion syndrome was 8–12%. In this study, 10 cases were found, including 2 cases of NT thickening, 1 case of absence of nasal bone, the remaining 3 cases of advanced age, 2 cases of pregnant women's requirements, 1 case of adverse pregnancy history and 1 case of high risk of MSS. Only one of the 10 cases of 15q11.2 deletion syndrome was induced because of the absence of nasal bone, and the others were normal after birth. The penetrance rate of proximal 16p11.2 microdeletion syndrome was 21–47%. In this study, 4 cases were found, including 1 case of intrauterine growth retardation, 1 case of nuchal cystic hygroma and pleural effusion, 1 case of ventricular septal defect and 1 case of left hand with six fingers. All 4 cases were abnormal by ultrasound, and the pregnancy was terminated after follow-up. The penetrance rate of 16p11.2 duplication syndrome was 27–34%. This study found 3 cases, including 1 case of double renal pelvis collection system separation, and the other two cases of high risk of NIPT or MSS. Pregnancy was terminated after follow-up. The penetrance rate of 16p13.11 duplication syndrome was 7–11%. This duplication was found in 9 cases. The clinical indications of 9 cases were advanced age, high risk of MSS and NIPT and adverse pregnancy history, but no abnormal ultrasound was found. After follow-up, only 1 case terminated pregnancy, and the other 8 cases were normal after birth. The penetrance rate of proximal 16p12.2 microdeletion syndrome was 11–16%, and this defect was found in 7 cases, including 2 cases of single umbilical artery, 1 case of choroid plexus cyst, 1 case of advanced age, 2 cases of MSS, and 1 case of adverse pregnancy history. After follow-up, 2 cases of single umbilical artery fetuses were induced labor, 1 case of MSS was induced labor, and the other 4 cases were normal after birth. The penetrance rate of 22q11.2 duplication syndrome was 14–31%, only 1 case had ventricular septal defect, and the remaining 8 cases were AMA or high risk of NIPT. After follow-up, only one case was normal after birth, and the remaining 8 cases were terminated. Therefore, these potential neurodevelopmental sites may have some structural abnormalities and may not have obvious clinical indications during pregnancy, which will increase parents ' anxiety about their development. The specific final phenotype is unknown, so it also brings great difficulties to genetic counseling. The single nucleotide polymorphism array (SNP array) technology of CMA can detect not only CNVs, but also ROH, UPD and low-level mosaics 26 . The existence of ROH suggests uniparental disomy (UPD). For most chromosomes, UPD has no clinical symptoms. However, some chromosomes contain parental-specific expression genes (genetic imprinting), and UPD of these chromosomes can lead to clinically observable symptoms. UPD on maternal chromosomes 7,11,14,15 and 20 and UPD on paternal chromosomes 6,11,14,15 and 20 are associated with phenotypic growth, neurodevelopment and behavioral abnormalities 27 . In this study, there are two cases of fragmented ROH involving the long arm of chromosome 15, because the results of CMA test can only indicate uniparental isodisomy, and 2 cases did not undergo parental testing to determine the source., and 2 cases did not undergo parental testing to determine the source. We speculate that the ROH region suggested by the CMA on the long arm of chromosome 15 is uniparental isodisomy, and the rest is uniparental heterodisomy, which may lead to the fetus phenotype of Prader-Willi Syndrome or Angelman Syndrome. Finally, the couple decided to induce labor. A case of ROH on the short arm of chromosome 5 was reported。The karyotype analysis result of this case was 46, XY, del (5) (p13) [32]/46, XY [70], which led to the lack of mosaicism in the key region of cridu chat syndrome. Finally, the couple decided to induce labor. For multiple large fragments of multiple chromosomes, ROH may suggest that the parents of the subjects have close or distant relationships 28 . The case of multiple chromosome fragments ROH in this study was determined by genetic counseling to be a consanguineous marriage, and finally the couple decided to induce labor. In this study, the whole chromosome homozygous region was detected on chromosome 4, and the later ultrasound indicated that the fetus had intrauterine growth restriction. After follow-up, the case was induced by intrauterine death. For 6 cases involving other chromosome fragmentary ROH regions, both couples continued pregnancy, and the fetuses were normal after birth. Therefore, it is necessary to carefully examine the fetal structure and strengthen the ultrasound monitoring of pregnancy for ROH detection. In view of CMA's powerful diagnostic ability for pathogenic CNVs, many VUS with unclear phenotypic correlation have been detected. In this study, the detection rate of copy number variants of VUS was 1.85%, which was consistent with previous literature reports(1.6%),but lower than the detection rate of another 5026 pregnant cohort (4.6%) 29 . These differences may be caused by different report interpretation criteria and clinical interpretation bias. VUS in prenatal diagnosis may lead to difficulties in genetic counseling, pressure on pregnant women and their families, and excessive termination of pregnancy. The method of accurately evaluating VUS cases needs to be further determined by clinicians. VUS cases are most likely to have a good pregnancy outcome. Therefore, cases with abnormal VUS need further follow-up. This may be of great significance for the formulation of future genetic counseling guidelines. Due to the lack of detailed genotype-phenotype information of some fetuses, this retrospective study is limited in data acquisition. For example, some pregnant women have poor compliance, or they refuse to do it because of the cost of testing, or some pregnant women lose information due to referral, which will lead to the omission of some fetuses with high-risk indications, which may eventually lead to bias in the results. There are also some fetuses with small gestational age, the relevant clinical examination may not be comprehensive, resulting in some clinical phenotypes not described in detail. Finally, the lack of parental data complicates the evaluation of the pathogenicity of some CNVs, which poses a challenge to our clinical genetic counseling. The CMA test is suitable for all prenatal clinical indications because it increases the detection of clinically meaningful CNVs. Clinically, clinicians should inform all pregnant women of the risk of CNVs that are currently undetectable by biochemical screening or most of the currently available NIPT platforms and the value of CMA in prenatal diagnosis for their choice. Materials and methods Patients and clinical indications . All patients who underwent invasive prenatal diagnosis by CMA at Linyi Women and Children's Hospital between 2016 and 2022 in Shandong, China. Clinical samples (chorionic villi and amniotic fluid) were obtained by ultrasound-guided abdominal chorionic villi sampling (CVS) and amniocentesis. After receiving detailed genetic counseling before testing, each participant signed a written informed consent form. This study was approved by the Ethics Committee of Linyi Maternal and Child Hospital (No. KYL-YXLL-2022017). The research was conducted in accordance with the relevant guidelines and clinical norms. CMA analysis. Fetal uncultured genomic DNA was extracted by DNA extraction kit (TIANamp Micro DNA Kit, China). The whole genome CytoScan 750K array (Thermo Fisher Scientific, USA) was used for CMA according to the manufacturer's recommendation. The original data were analyzed by chromosome analysis software 4.2 (Thermo Fisher Scientific, USA) of genome version GRCh37/hg19. The results were classified according to genetic mode (familial or ab initio), CNV length, genes involved, their classification and literature information. Online databases consulted included PubMed ( http://www.ncbi.nlm.nih.gov/PubMed ), Decipher ( https://www.deciphergenomics.org/),UCSC(https://genome.ucsc.edu/index.html ) and ClinGen ( https://search.clinicalgenome.org/ ), clinvar ( https://www.ncbi.nlm.nih.gov/clinvar/ ), HGMD ( https://www.hgmd.cf.ac.uk/ac/index.php ) and DGV( http://dgv.tcag.ca/dgv/app/home ). The results were classified as pathogenic (P), likely pathogenic (LP), variant of uncertain significance (VUS) and normal (including likely benign and benign) according to the 2019 ACMG guidelines. Benign (common polymorphism) and/or likely benign CNVs were detected, and the reported results were normal. ROH(Regions of Homozygosity)involving chr 6, chr 7, chr 11, chr 14, chr 15, chr 20 with 5 Mb (at the end of the chromosome) or 10 Mb (not at the end of the chromosome) on one of the chromosomes was also reported, while no ROH was seen on the other chromosomes. Statistical analysis. SPSS 21.0 (Chicago, USA) was used for statistical analysis. Classified variables are expressed as numbers and percentages, and the chi-square test was used for comparison. Bilateral p value < 0.05 was considered statistically significant. The linear regression models with gamma value were used to assess the changes of abnormal rate in different age groups. Declarations Declaration of competing interest The authors have no conflict of interests to declare. Author Contribution HF.L.performed the experiments,analysed data,and co-wrote the manuscript.J.H.performed the clinical diagnoses for samples'recruitment,and analysed data. JG.Q. and L.Z. performed the experiments. QY.W. supervised the project, performed the clinical diagnoses for samples’ recruitment. JP.Z. supervised the project, designed the study, obtained funding, analysed data, and co-wrote the manuscript. All authors read and approved the final manuscript. Acknowledgements This work was supported by the National Key Research & Development Program of Liyin,China(2022YX0111) Data availability The data that support the findings of this study are available from the corresponding author upon reasonable request. References Committee on Genetics and the Society for Maternal-Fetal Medicine. 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Eur J Hum Genet. 24,645–651(2016). Zhang,Z. et al. Pregnancy outcomes of fetuses with congenital heart disease after a prenatal diagnosis with chromosome microarray. Prenat Diagn. 42,79–86(2022). Huang, R. et al. Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing. Hum Genet. 142,835–847(2023). Xie, X. et al. Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities. Int J Gen Med.14,4239–4246(2021). Donnelly, J.C. et al. Association of copy number variants with specific ultrasonographically detected fetal anomalies. Obstet Gynecol.124,83–90(2014). Xia, M. et al. Application of chromosome microarray analysis in prenatal diagnosis. BMC Pregnancy Child birth. 20,696(2020). Kowalczyk, K.et al. Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies. Genes (Basel). 13,690(2022). Xiang, J.et al. Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies. Front Genet. 11,571219(2020). Fiorentino, F.et al. Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet.21,725–730(2013). Wapner, R.J. et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England journal of medicine.367,2175–2184(2012). Wang,J. et al. Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing. Am J Obstet Gynecol. 219,287.e1-287.e18 (2018). Cai, M.et al. Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China. Sci Rep.13,7242(2023). Mastromoro, G. et al. Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis. Diagnostics (Basel). 12,575(2022). Yuan, X., Yong, W., Dai, L., Wang, W., Wu, L. The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study. Ann Transl Med. 11,111(2023). Cai,M. et al. Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers. BMC Med Genomics.14,19(2021). De Wit,M.C. et al. Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature. Ultrasound Obstet Gynecol. 43,139–146(2014). Piwowarczyk, P. et al. Prenatal diagnosis of Emanuel syndrome - case series and review of the literature. J Obstet Gynaecol. 42,2615–2620(2022). Xue, J.et al. 22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation. Transl Pediatr.10,3273–3281(2021). Kirov, G. et al. The penetrance of copy number variations for schizophrenia and developmental delay. Biol Psychiatry.75,378–385(2014). Rosenfeld, JA., Coe,B.P., Eichler, E.E., Cuckle, H., Shaffer, LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med.15, 478–481(2013). Sahoo,T. et al. Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genet Med.19,83–89(2017). Gonzales, P.R. et al. Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 24,255–261(2022). Kirin, M.et al.Genomic runs of homozygosity record population history and consanguinity. PLoS One. 5,e13996(2010). Wang, J.C., Radcliff,J., Coe, S.J., Mahon, L.W. Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies. Prenat Diagn. 39,137–156(2019). Additional Declarations No competing interests reported. Supplementary Files supplementrayMaterial.pdf Cite Share Download PDF Status: Under Review Version 1 posted Editorial decision: Revision requested 03 Jun, 2024 Reviews received at journal 02 Jun, 2024 Reviewers agreed at journal 31 May, 2024 Reviewers agreed at journal 21 May, 2024 Reviewers agreed at journal 21 May, 2024 Reviewers agreed at journal 11 Apr, 2024 Reviews received at journal 01 Feb, 2024 Reviewers agreed at journal 17 Jan, 2024 Reviewers invited by journal 17 Jan, 2024 Editor assigned by journal 16 Jan, 2024 Editor invited by journal 04 Jan, 2024 Submission checks completed at journal 28 Dec, 2023 First submitted to journal 27 Dec, 2023 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Also discoverable on Platform About Our Team In Review Editorial Policies Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {\"props\":{\"pageProps\":{\"initialData\":{\"identity\":\"rs-3810641\",\"acceptedTermsAndConditions\":true,\"allowDirectSubmit\":false,\"archivedVersions\":[],\"articleType\":\"Article\",\"associatedPublications\":[],\"authors\":[{\"id\":263966554,\"identity\":\"165fc309-6539-4f0c-9c7c-b06fc3dd7406\",\"order_by\":0,\"name\":\"Huafeng Li\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"linyi\",\"correspondingAuthor\":false,\"submittingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Huafeng\",\"middleName\":\"\",\"lastName\":\"Li\",\"suffix\":\"\"},{\"id\":263966555,\"identity\":\"be43fc97-b875-492f-95d1-0ca84d148ec6\",\"order_by\":1,\"name\":\"Juan 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05:29:11\",\"currentVersionCode\":1,\"declarations\":\"\",\"doi\":\"10.21203/rs.3.rs-3810641/v1\",\"doiUrl\":\"https://doi.org/10.21203/rs.3.rs-3810641/v1\",\"draftVersion\":[],\"editorialEvents\":[],\"editorialNote\":\"\",\"failedWorkflow\":false,\"files\":[{\"id\":49092268,\"identity\":\"250b6be0-36a6-4ddd-84d1-d474f36d2413\",\"added_by\":\"auto\",\"created_at\":\"2024-01-03 02:02:29\",\"extension\":\"jpeg\",\"order_by\":1,\"title\":\"Figure 1\",\"display\":\"\",\"copyAsset\":false,\"role\":\"figure\",\"size\":140108,\"visible\":true,\"origin\":\"\",\"legend\":\"\\u003cp\\u003eDistribution of chromosomal abnormalities in different clinical indications\\u003c/p\\u003e\",\"description\":\"\",\"filename\":\"floatimage1.jpeg\",\"url\":\"https://assets-eu.researchsquare.com/files/rs-3810641/v1/ababb1119018e970b1a79a5f.jpeg\"},{\"id\":49092995,\"identity\":\"7a856ff5-03fa-490e-92ee-d12e6869d7d7\",\"added_by\":\"auto\",\"created_at\":\"2024-01-03 02:10:29\",\"extension\":\"pdf\",\"order_by\":0,\"title\":\"\",\"display\":\"\",\"copyAsset\":false,\"role\":\"manuscript-pdf\",\"size\":465999,\"visible\":true,\"origin\":\"\",\"legend\":\"\",\"description\":\"\",\"filename\":\"manuscript.pdf\",\"url\":\"https://assets-eu.researchsquare.com/files/rs-3810641/v1/42bab335-9bf0-4eae-b991-c083f191b247.pdf\"},{\"id\":49092267,\"identity\":\"5bd9d5b7-b5e5-44b3-bef2-553773f56242\",\"added_by\":\"auto\",\"created_at\":\"2024-01-03 02:02:29\",\"extension\":\"pdf\",\"order_by\":1,\"title\":\"\",\"display\":\"\",\"copyAsset\":false,\"role\":\"supplement\",\"size\":328393,\"visible\":true,\"origin\":\"\",\"legend\":\"\",\"description\":\"\",\"filename\":\"supplementrayMaterial.pdf\",\"url\":\"https://assets-eu.researchsquare.com/files/rs-3810641/v1/f41d0230bfe91c610747c5e2.pdf\"}],\"financialInterests\":\"No competing interests reported.\",\"formattedTitle\":\"Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies\",\"fulltext\":[{\"header\":\"Introduction\",\"content\":\"\\u003cp\\u003eChina is a populous country and a country with birth defects. According to the ' China Birth Defects Prevention and Control Report ( 2012 ) ' released by the Ministry of Health in September 2012, the incidence of birth defects in China is about 5.6%. In addition to traditional chromosomal aneuploidy abnormalities, chromosome microdeletion or microduplication syndrome has also become a large category of birth defects. The diagnostic rate of CMA for chromosomal abnormalities is higher than that of traditional G-banding karyotype analysis. Many studies use CMA to detect microdeletions and microduplications in high-risk pregnancies. Microdeletion and microduplication syndrome can be diagnosed by CMA in prenatal diagnosis, which is of positive significance for the prevention of birth defects.\\u003c/p\\u003e \\u003cp\\u003eThe indications for invasive prenatal diagnosis mainly included abnormal ultrasound, high-risk maternal serum screening (MSS), high-risk non-invasive prenatal testing (NIPT), advanced maternal age(AMA), intrauterine growth retardation, history of adverse pregnancy or family history, maternal request, in vitro fertilization, drug use or exposure to toxic substances during pregnancy, consanguineous marriage, and parental anxiety. Since 2009, the United States, Europe, Canada and other developed countries have successively used chromosome chips as the first-line prenatal diagnosis and detection method for prenatal ultrasonic structural malformation detection \\u003csup\\u003e1,2,3\\u003c/sup\\u003e. So far, many studies have been published to evaluate the performance of CMA in prenatal diagnosis \\u003csup\\u003e4,5,6\\u003c/sup\\u003e. The incidence of pathogenic CNV in the fetus with abnormal ultrasound can be further refined by the organ system involved and the number of abnormalities observed. The most common organ systems related to abnormal CMA results are the heart, bone, genitourinary system and central nervous system \\u003csup\\u003e7,8,9,10\\u003c/sup\\u003e. However, little is known about the incidence of clinically significant CNV in fetuses with structural abnormalities of the anatomical systems or ultrasound soft marker abnormalities. In addition, for pregnant women who choose invasive prenatal diagnosis because of other indications, such as AMA, abnormal MSS and abnormal NIPT results, there is little information about the diagnostic benefits of whole chromosome microarray\\u003csup\\u003e11\\u003c/sup\\u003e. Given China's large population, vast territory, and uneven economic development level, a detailed understanding of the application of CMA detection technology in specific regions in prenatal high-risk groups will help to strengthen the popularization of this technology and government support policies. Therefore, we comprehensively and systematically analyzed the CMA test results of 4211 prenatal high-risk groups to determine the incidence of CMA abnormalities detected in different indications, so as to guide clinicians to evaluate the scope of CMA technology applied to prenatal diagnosis and prevent birth defects.\\u003c/p\\u003e\"},{\"header\":\"Results\",\"content\":\"\\u003cp\\u003e\\u003cstrong\\u003eDemographic data.\\u003c/strong\\u003e From April 2016 to December 2022, 4211 women underwent invasive prenatal genetic diagnosis in our center. Among them, 169 cases (169/4211,4%) underwent chorionic villus and 4042 cases (4042/4211,96%) underwent amniocentesis. Clinical indications include only advanced maternal age (467/4211,11.09%), high-risk maternal serum screening (832/4211, 19.76%), high risk of NIPT (573/4211,13.6%), abnormal ultrasound (1379/4211, 32.75%) and other indications(960/4211,22.80%), such as intrauterine growth retardation, history of adverse pregnancy or family history, maternal request, in vitro fertilization, drug use or exposure to toxic substances during pregnancy, consanguineous marriage, and parental anxiety. The mean gestational age was 12 weeks (11-13) for chorionic villus and 20 weeks (16-30) for amniocentesis.\\u003c/p\\u003e\\n\\u003cp\\u003eTable 1 \\u0026nbsp;CMA results of 4211 cases with different indications for prenatal diagnosis\\u003c/p\\u003e\\n\\u003ctable border=\\\"1\\\" cellspacing=\\\"0\\\" cellpadding=\\\"0\\\" width=\\\"942\\\"\\u003e\\n \\u003ctbody\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"10.169491525423728%\\\" rowspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003eSubgroups\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.275423728813559%\\\" rowspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003eTotal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.69915254237288%\\\" rowspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003eNormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.004237288135593%\\\" rowspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003eAbnormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"24.046610169491526%\\\" colspan=\\\"3\\\" rowspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003eCommon Autosomal Aneuploidies\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.063559322033898%\\\" rowspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003eRare Autosomal Aneuploidy\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.957627118644067%\\\" rowspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003eSex Chromosome Aneuploidy\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.991525423728813%\\\" rowspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003e\\u0026nbsp;CNVs（P/LP)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.26271186440678%\\\" colspan=\\\"2\\\" rowspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003eCNVs(VUS)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0.5296610169491526%\\\"\\u003e\\n \\u003cp\\u003e\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\" height=\\\"38\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"100%\\\"\\u003e\\n \\u003cp\\u003e\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\" height=\\\"38\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"10.169491525423728%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.275423728813559%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.69915254237288%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.004237288135593%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.05084745762712%\\\"\\u003e\\n \\u003cp\\u003eT21\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.15677966101695%\\\"\\u003e\\n \\u003cp\\u003eT18\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.838983050847458%\\\"\\u003e\\n \\u003cp\\u003eT13\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.063559322033898%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.957627118644067%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.991525423728813%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.26271186440678%\\\" colspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0.5296610169491526%\\\"\\u003e\\n \\u003cp\\u003e\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\" height=\\\"38\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"10.169491525423728%\\\"\\u003e\\n \\u003cp\\u003eAMA- only\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.275423728813559%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e467(11.09%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.69915254237288%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e437(93.58%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.004237288135593%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e30(6.42%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.05084745762712%\\\"\\u003e\\n \\u003cp\\u003e6(1.28%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.15677966101695%\\\"\\u003e\\n \\u003cp\\u003e2(0.43%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.838983050847458%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.063559322033898%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.957627118644067%\\\"\\u003e\\n \\u003cp\\u003e2(0.43%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.26271186440678%\\\" colspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003e11(2.35%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.521186440677966%\\\" colspan=\\\"2\\\"\\u003e\\n \\u003cp\\u003e9(1.93%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\" height=\\\"38\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"10.169491525423728%\\\"\\u003e\\n \\u003cp\\u003eAbnormal MSS\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.275423728813559%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e832(19.76%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.69915254237288%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e782(94.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.004237288135593%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e50(6.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.05084745762712%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e6(0.72%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.15677966101695%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e5(0.6%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.838983050847458%\\\" valign=\\\"top\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"10.063559322033898%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e2(0.24%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.957627118644067%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e3(0.36%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.26271186440678%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e21(2.52%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.521186440677966%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e13(1.56%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\" height=\\\"38\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"10.169491525423728%\\\"\\u003e\\n \\u003cp\\u003eAbnormal NIPT\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.275423728813559%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e573(13.60%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.69915254237288%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e349(60.91%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.004237288135593%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e224(39.09%)***\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.05084745762712%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e16(2.79%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.15677966101695%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e3(0.53%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.838983050847458%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e2(0.35%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.063559322033898%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e7(1.22%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.957627118644067%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e122(21.29%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.26271186440678%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e49(8.55%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.521186440677966%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e25(4.36%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\" height=\\\"38\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"10.169491525423728%\\\"\\u003e\\n \\u003cp\\u003eAbnormal ultrasound\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.275423728813559%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e1379(32.75%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.69915254237288%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e1252(90.79%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.004237288135593%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e127(9.21%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.05084745762712%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e34(2.47%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.15677966101695%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e17(1.23%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.838983050847458%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e1(0.07%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.063559322033898%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e1(0.07%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.957627118644067%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e8（0.58%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.26271186440678%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e49(3.55%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.521186440677966%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e17(1.24%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\" height=\\\"38\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"10.169491525423728%\\\"\\u003e\\n \\u003cp\\u003eOthers\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.275423728813559%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e960(22.80%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.69915254237288%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e911(94.90%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.004237288135593%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e49(5.10%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.05084745762712%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e3(0.31%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.15677966101695%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e2(0.21%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.838983050847458%\\\" valign=\\\"top\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"10.063559322033898%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e1(0.1%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.957627118644067%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e2（0.21%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.26271186440678%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e29(3.02%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.521186440677966%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e12(1.25%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\" height=\\\"38\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"10.169491525423728%\\\"\\u003e\\n \\u003cp\\u003eTotal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.275423728813559%\\\"\\u003e\\n \\u003cp\\u003e4211\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.69915254237288%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e3731(88.6%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.004237288135593%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e480(11.4%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.05084745762712%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e65(1.54%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.15677966101695%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e29(0.69%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.838983050847458%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e3(0.07%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.063559322033898%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e12(0.29%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.957627118644067%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e136（3.23%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.26271186440678%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e159(3.78%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.521186440677966%\\\" colspan=\\\"2\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e76(1.8%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\" height=\\\"38\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"9.856262833675565%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"9.958932238193018%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"11.90965092402464%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"11.190965092402465%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"7.8028747433264884%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"7.905544147843942%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"7.597535934291581%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"8.213552361396303%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"9.650924024640657%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"6.981519507186858%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"1.3347022587268993%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"7.597535934291581%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003ctd width=\\\"0%\\\"\\u003e\\n \\u003cp\\u003e\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003c/tbody\\u003e\\n\\u003c/table\\u003e\\n\\u003cp\\u003e***The significance is at the p \\u0026lt; 0.001 level.\\u003c/p\\u003e\\n\\u003cp\\u003eFrom April 2016 to December 2022, a total of 4211 samples were analyzed by whole chromosome microarray, and the results of 480 samples were abnormal (480/4211,11.4%), including 245 cases of chromosomal numerical abnormality \\u0026nbsp; (245/4211, 5.82%) and 235 cases of CNVs abnormality (235/4211)（(see Table 1 and Figure 1). Among 245 cases of chromosomal numerical abnormality, 65 cases were trisomy 21 (65/4211, 1.54%), trisomy 18 (29/4211,0.69%) and trisomy 13 (3/4211,0.07%). 7 cases of rare autosomal abnormalities, including 3 cases of trisomy 2, 2 cases of trisomy 9, 1 case of trisomy 16, 1 case of trisomy 22, 1 case of trisomy 4 and 1 case of trisomy 13. There were 136 cases (136/4211,3.23%) of sex chromosome aneuploidy. 64 cases (64/235,27.2%) of parents were analyzed by CMA, ）of which 47 cases (47/235,20%) were parental inheritance and 17 cases (17/235,7.2%) were de novo mutation. Of the 235 CNV abnormalities, 159 cases (159/4211,3.78%) were P/LP (See Schedule 1), and 76 cases (76/4211,1.80%) were VUS (See Schedule 2). In different clinical diagnosis group, Rate of abnormal diagnosis in abnormal NIPT is significantly higher than that in the other four clinical indication groups (P\\u0026lt;0.001). Rate of abnormal diagnosis in abnormal ultrasound is significantly higher than others(9.21% vs 5.10%,P\\u0026lt; 0.001). There was no significant difference between the other two groups(p\\u0026gt;0.05).\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003eAMA only\\u003c/strong\\u003e. The pregnant women in this group are only over 35 years old and have no other indications, with an average age of 39.3 years (35-53 years old). There were 30 cases (30/467, 6.42%) of chromosomal abnormality detected by CMA, including 10 cases of aneuploidy (10/467, 2.14%) and 20 cases of CNV abnormalities (20/467, 4.28%). 467 AMA patients were divided into three subgroups according to maternal age (see Table 2), and the relationship between maternal age and chromosomal abnormality rate was analyzed. The aneuploidy rate was positively correlated with increasing age, while CNVs did not have this growth trend. \\u0026nbsp;\\u003c/p\\u003e\\n\\u003cp\\u003eTable 2 CMA results of 467 pregnant women with only AMA\\u0026nbsp;\\u003c/p\\u003e\\n\\u003ctable border=\\\"1\\\" cellspacing=\\\"0\\\" cellpadding=\\\"0\\\" width=\\\"894\\\"\\u003e\\n \\u003ctbody\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"16.890380313199106%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eSubgroups\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.90380313199105%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e35-39\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.002237136465325%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e40-44\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"16.44295302013423%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e\\u0026ge;45\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.568232662192393%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003egamma value\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"12.192393736017896%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eP\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"16.890380313199106%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eNormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.90380313199105%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e229(93.85%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.002237136465325%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e182(93.33%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"16.44295302013423%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e26(92.86%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.568232662192393%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e-\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"12.192393736017896%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e-\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"16.890380313199106%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eAbnormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.90380313199105%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e15(6.15%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.002237136465325%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e13(6.67%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"16.44295302013423%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e2(7.14%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.568232662192393%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e0.047\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"12.192393736017896%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e0.866\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"16.890380313199106%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eAneuploidy\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.90380313199105%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e3(1.23%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.002237136465325%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e6(3.08%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"16.44295302013423%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e1(3.57%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.568232662192393%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e0.392\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"12.192393736017896%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e0.289\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"16.890380313199106%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eCNVs(P/LP)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.90380313199105%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e7(2.87%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.002237136465325%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e4(2.05%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"16.44295302013423%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e0(0%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.568232662192393%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e-0.26\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"12.192393736017896%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e0.878\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"16.890380313199106%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eCNVs(VUS)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.90380313199105%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e5(2.05%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.002237136465325%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e3(1.53%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"16.44295302013423%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e1(3.57%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"18.568232662192393%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e-0.009\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"12.192393736017896%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e0.608\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003c/tbody\\u003e\\n\\u003c/table\\u003e\\n\\u003cp\\u003e\\u0026nbsp;\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003eAbnormal MSS results.\\u0026nbsp;\\u003c/strong\\u003e The center screened the serum of pregnant women in the second trimester by detecting the levels of AFP and free \\u0026beta;-HCG. 832 cases of abnormal MSS were analyzed by CMA, and 50 cases (50/832, 6.00%) were abnormal, including 16 cases of aneuploidy (16/832, 1.92%) and 34 cases of CNVs (34/832,4.08%). 832 cases with abnormal MSS were divided into three subgroups according to risk types: 721 cases with high risk of trisomy 21 syndrome (721/832, 86.66%), 28 cases with high risk of trisomy 18 syndrome (28/832, 3.36%) and 83 cases with intermediate risk of trisomy 21 syndrome (83/832, 9.98%). Among them, 6 cases were trisomy 21 syndrome, all of which were high risk of 21 trisomy syndrome. There were 5 cases of trisomy 18, of which 4 cases showed high risk of trisomy 21 syndrome and 1 case showed high risk of trisomy 18 syndrome (see Table 3). There are 2 cases of rare autosomal aneuploidy, one 1 case of trisomy 4 mosaicism and 1 case of trisomy 16 mosaicism.\\u003c/p\\u003e\\n\\u003cp\\u003eTable 3 \\u0026nbsp; CMA results of 832 pregnant women with abnormal MSS\\u003c/p\\u003e\\n\\u003ctable border=\\\"0\\\" cellspacing=\\\"0\\\" cellpadding=\\\"0\\\" width=\\\"1009\\\"\\u003e\\n \\u003ctbody\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.542120911793855%\\\"\\u003e\\n \\u003cp\\u003eSubgroups\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.514370664023787%\\\"\\u003e\\n \\u003cp\\u003eTotal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.415262636273539%\\\"\\u003e\\n \\u003cp\\u003eNormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.622398414271556%\\\"\\u003e\\n \\u003cp\\u003eAbnormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.838453914767096%\\\"\\u003e\\n \\u003cp\\u003eT21\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.135777998017839%\\\"\\u003e\\n \\u003cp\\u003eT18\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.217046580773042%\\\"\\u003e\\n \\u003cp\\u003eSex Chromosome Aneuploidy\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.325074331020813%\\\"\\u003e\\n \\u003cp\\u003eRare Autosomal Aneuploidy\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003eCNVs(P/LP)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003eCNVs(VUS)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"5.550049554013875%\\\"\\u003e\\n \\u003cp\\u003e\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.542120911793855%\\\"\\u003e\\n \\u003cp\\u003eHigh risk of trisomy 21 syndrome（\\u0026ge;1/270)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.514370664023787%\\\"\\u003e\\n \\u003cp\\u003e721(86.66%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.415262636273539%\\\"\\u003e\\n \\u003cp\\u003e678(94.04%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.622398414271556%\\\"\\u003e\\n \\u003cp\\u003e43(5.96%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.838453914767096%\\\"\\u003e\\n \\u003cp\\u003e6(0.83%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.135777998017839%\\\"\\u003e\\n \\u003cp\\u003e4(0.55%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.217046580773042%\\\"\\u003e\\n \\u003cp\\u003e2(0.28%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.325074331020813%\\\"\\u003e\\n \\u003cp\\u003e2(0.28%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003e19(2.63%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003e10(1.39%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"5.550049554013875%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.542120911793855%\\\"\\u003e\\n \\u003cp\\u003eHigh risk of trisomy 18 syndrome(\\u0026ge;1/350）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.514370664023787%\\\"\\u003e\\n \\u003cp\\u003e28(3.36%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.415262636273539%\\\"\\u003e\\n \\u003cp\\u003e25(89.29%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.622398414271556%\\\"\\u003e\\n \\u003cp\\u003e3(10.71%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.838453914767096%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.135777998017839%\\\"\\u003e\\n \\u003cp\\u003e1(3.57%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.217046580773042%\\\"\\u003e\\n \\u003cp\\u003e1(3.57%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.325074331020813%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003e1(3.57%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"5.550049554013875%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.542120911793855%\\\"\\u003e\\n \\u003cp\\u003eIntermediate risk of trisomy 21 syndrome（1/270-1/1000）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.514370664023787%\\\"\\u003e\\n \\u003cp\\u003e83(9.98%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.415262636273539%\\\"\\u003e\\n \\u003cp\\u003e79(95.18%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.622398414271556%\\\"\\u003e\\n \\u003cp\\u003e4(4.82%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.838453914767096%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.135777998017839%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.217046580773042%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.325074331020813%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003e2(2.41%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003e2(2.41%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"5.550049554013875%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.542120911793855%\\\"\\u003e\\n \\u003cp\\u003e total\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.514370664023787%\\\"\\u003e\\n \\u003cp\\u003e832\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.415262636273539%\\\"\\u003e\\n \\u003cp\\u003e782(94.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.622398414271556%\\\"\\u003e\\n \\u003cp\\u003e50(6.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.838453914767096%\\\"\\u003e\\n \\u003cp\\u003e6(0.72%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.135777998017839%\\\"\\u003e\\n \\u003cp\\u003e5(0.60%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.217046580773042%\\\"\\u003e\\n \\u003cp\\u003e3(0.36%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.325074331020813%\\\"\\u003e\\n \\u003cp\\u003e2(0.24%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003e21(2.52%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.919722497522299%\\\"\\u003e\\n \\u003cp\\u003e13(1.56%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"5.550049554013875%\\\"\\u003e\\u003cbr\\u003e\\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003c/tbody\\u003e\\n\\u003c/table\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003eAbnormal NIPT results.\\u0026nbsp;\\u003c/strong\\u003e We used CMA to evaluate 573 cases of NIPT abnormalities (including chromosomal aneuploidy and CNVs detected by NIPT) A total of 224 cases of chromosomal abnormalities were detected (224 / 573,39.09 % ), including 159 cases of aneuploidy ( 150 / 573,26.18 % ), 7 cases of ROH ( 7 / 573,1.22 % ), and 67 cases of CNVs ( 67 / 573,11.69 % ). The 573 cases with abnormal NIPT results were divided into 5 subgroups according to different chromosomal abnormalities. In the abnormal chr21 group, there were 16 cases of trisomy 21 and 1 case of CNVs among the 23 high-risk populations with trisomy 21. In the abnormal chr18 group, there were 3 cases of trisomy 18 and 8 cases of CNVs among 22 high-risk populations with trisomy 18. In the abnormal chr13 group, there were 3 cases of trisomy 13 and 3 cases of CNVs among 12 high-risk populations with trisomy 13 Among 235 cases with high risk of other autosomal abnormalities, 54 cases (54/235,23.0%) were detected, including 6 cases of aneuploidy (6/235, 2.55%), including 1 case of trisomy 16 mosaicism, 1 case of trisomy 22 mosaicism, 3 cases of trisomy 2 mosaicism, 1 case of trisomy 9 mosaicism, 6 cases of ROH ( 6 / 235,2.55 % ), 42 cases of CNVs ( 42 / 235,17.87 % ). Among 281 cases of sex chromosome abnormality, 122 cases of sex chromosomal aneuploidy, 1 case of ROH and 13 cases of CNVs were confirmed by CMA. (see Table 4). In addition, the positive diagnosis rate of chr21 was significantly higher than that of other autosomal abnormalities (73.9% vs 22.98%, p \\u0026lt; 0.001), and the positive diagnosis rate of sex chromosome abnormality was also significantly higher than that of other autosomal abnormalities (48.04% vs 22.98%, p \\u0026lt; 0.001).\\u003c/p\\u003e\\n\\u003cp\\u003eTable 4 \\u0026nbsp;CMA results of 573 pregnant women with abnormal \\u0026nbsp;NIPT\\u003c/p\\u003e\\n\\u003ctable border=\\\"1\\\" cellspacing=\\\"0\\\" cellpadding=\\\"0\\\" width=\\\"851\\\"\\u003e\\n \\u003ctbody\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"26.352941176470587%\\\"\\u003e\\n \\u003cp\\u003e Subgroups\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.823529411764707%\\\"\\u003e\\n \\u003cp\\u003eTotal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.882352941176471%\\\"\\u003e\\n \\u003cp\\u003eNormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.294117647058824%\\\"\\u003e\\n \\u003cp\\u003eAbnormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.647058823529411%\\\"\\u003e\\n \\u003cp\\u003eAneuploidy\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.647058823529412%\\\"\\u003e\\n \\u003cp\\u003eROH\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.941176470588236%\\\"\\u003e\\n \\u003cp\\u003eCNVs(P/LP)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.411764705882353%\\\"\\u003e\\n \\u003cp\\u003eCNVs(VUS)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"26.352941176470587%\\\"\\u003e\\n \\u003cp\\u003eT21\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.823529411764707%\\\"\\u003e\\n \\u003cp\\u003e23(4.01%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.882352941176471%\\\"\\u003e\\n \\u003cp\\u003e6(26.09%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.294117647058824%\\\"\\u003e\\n \\u003cp\\u003e17(73.91%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.647058823529411%\\\"\\u003e\\n \\u003cp\\u003e16(69.57%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.647058823529412%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.941176470588236%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.411764705882353%\\\"\\u003e\\n \\u003cp\\u003e1(4.35%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"26.352941176470587%\\\"\\u003e\\n \\u003cp\\u003eT18\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.823529411764707%\\\"\\u003e\\n \\u003cp\\u003e22(3.84%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.882352941176471%\\\"\\u003e\\n \\u003cp\\u003e11(50.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.294117647058824%\\\"\\u003e\\n \\u003cp\\u003e11(50.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.647058823529411%\\\"\\u003e\\n \\u003cp\\u003e3(13.64%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.647058823529412%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.941176470588236%\\\"\\u003e\\n \\u003cp\\u003e8(36.36%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.411764705882353%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"26.352941176470587%\\\"\\u003e\\n \\u003cp\\u003eT13\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.823529411764707%\\\"\\u003e\\n \\u003cp\\u003e12(2.09%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.882352941176471%\\\"\\u003e\\n \\u003cp\\u003e6(50.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.294117647058824%\\\"\\u003e\\n \\u003cp\\u003e6(50.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.647058823529411%\\\"\\u003e\\n \\u003cp\\u003e3(25.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.647058823529412%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.941176470588236%\\\"\\u003e\\n \\u003cp\\u003e2(16.67%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.411764705882353%\\\"\\u003e\\n \\u003cp\\u003e1(8.33%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"26.352941176470587%\\\"\\u003e\\n \\u003cp\\u003eOther autosomes\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.823529411764707%\\\"\\u003e\\n \\u003cp\\u003e235(41.01%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.882352941176471%\\\"\\u003e\\n \\u003cp\\u003e181(77.02%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.294117647058824%\\\"\\u003e\\n \\u003cp\\u003e54(22.98%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.647058823529411%\\\"\\u003e\\n \\u003cp\\u003e6(2.55%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.647058823529412%\\\"\\u003e\\n \\u003cp\\u003e6(2.55%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.941176470588236%\\\"\\u003e\\n \\u003cp\\u003e28(11.91%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.411764705882353%\\\"\\u003e\\n \\u003cp\\u003e14(5.96%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"26.352941176470587%\\\"\\u003e\\n \\u003cp\\u003eSex chromosomes\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.823529411764707%\\\"\\u003e\\n \\u003cp\\u003e281(49.04%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.882352941176471%\\\"\\u003e\\n \\u003cp\\u003e145(51.06%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.294117647058824%\\\"\\u003e\\n \\u003cp\\u003e136(48.04%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.647058823529411%\\\"\\u003e\\n \\u003cp\\u003e122(43.42%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.647058823529412%\\\"\\u003e\\n \\u003cp\\u003e1(0.36%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.941176470588236%\\\"\\u003e\\n \\u003cp\\u003e11(3.91%\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.411764705882353%\\\"\\u003e\\n \\u003cp\\u003e2(0.71%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"26.352941176470587%\\\"\\u003e\\n \\u003cp\\u003eTotal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.823529411764707%\\\"\\u003e\\n \\u003cp\\u003e573\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.882352941176471%\\\"\\u003e\\n \\u003cp\\u003e349(60.91%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.294117647058824%\\\"\\u003e\\n \\u003cp\\u003e224(39.09%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.647058823529411%\\\"\\u003e\\n \\u003cp\\u003e150(26.18%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.647058823529412%\\\"\\u003e\\n \\u003cp\\u003e7(1.22%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"10.941176470588236%\\\"\\u003e\\n \\u003cp\\u003e49(8.55%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"11.411764705882353%\\\"\\u003e\\n \\u003cp\\u003e18(3.14%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003c/tbody\\u003e\\n\\u003c/table\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003eAbnormal ultrasound.\\u003c/strong\\u003e\\u0026nbsp; 1379 cases of fetal abnormalities were examined by ultrasound. and 127 cases (127/1379,9.21%) were found by CMA analysis, including 61 cases of chromosomal aneuploidy (61/1379, 4.42%) and 66 cases of CNV abnormalities (66/1379,4.79%). According to the characteristics of ultrasound, 1379 cases of ultrasound abnormalities were divided into five subgroups. multiple (more than two ) structural abnormalities in 27 cases (1.96 %, 27 / 1379), single system structural abnormalities in 447 cases (32.41 %,447 / 1379 ), single ultrasound soft marker abnormalities in 774 cases (56.13 %, 774 / 1379 ), multiple ( more than two ) ultrasound soft marker abnormalities in 70 cases (5.08 %, 72 / 1379), structural abnormalities combined with soft marker abnormalities in 61 cases (4.42 %,61 / 1379 ). In general, the chromosomal abnormality rate of multi-system structural abnormalities group was the highest (18.52%5/27), followed by structural abnormality combined with ultrasound soft marker abnormality group (16.39%,10/61), multiple ultrasound soft marker groups(10%,7/70)and single ultrasound soft marker abnormality group (75/779,9.69%). In the subgroup of single-system structural abnormalities, cardiovascular system abnormalities were the most common (39.15 %, 175 / 447), and CMA detected 5.71 % (10 / 175) of chromosomal abnormalities. The second was Genito-urinary system abnormalities (91 / 447,20.35 %), CMA detected 5.49 % ( 5 / 91 ) of chromosomal abnormalities. In this study, the detection rate of chromosomal abnormalities in the Musculoskeletal system was the highest (19.05 %, 4 / 21 ), followed by Central nervous system abnormalities ( 15.15 %, 5 / 33 ).In the subgroup of single ultrasound soft marker abnormality, the most common abnormality is thickened nuchal translucency (29.07%,225/774), chromosome abnormality accounted for 18.22 % ( 41 / 225 ), followed by Choroid plexus cyst ( 16.41 %, 127 / 774 ), chromosome abnormality accounted for 7.09 % ( 9 / 127 ). However, in this study, the detection rate of chromosomal abnormalities with Renal echogenicity enhancement was the highest (28.57 %, 2 / 7 ), followed by nuchal cystic hygroma ( 22.22 %, 8 / 36 ) ( see Table 5 ).\\u003c/p\\u003e\\n\\u003cp\\u003eTable 5 \\u0026nbsp;CMA results of 1379 pregnant women with ultrasound abnormalities\\u003c/p\\u003e\\n\\u003ctable border=\\\"1\\\" cellspacing=\\\"0\\\" cellpadding=\\\"0\\\" width=\\\"981\\\"\\u003e\\n \\u003ctbody\\u003e\\n \\u003ctr\\u003e\\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.83893985728848%\\\"\\u003e\\n \\u003cp\\u003eSubgroups\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.174311926605505%\\\"\\u003e\\n \\u003cp\\u003eTotal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.683995922528032%\\\"\\u003e\\n \\u003cp\\u003eNormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.460754332313964%\\\"\\u003e\\n \\u003cp\\u003eAbnormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"23.547400611620795%\\\" colspan=\\\"3\\\"\\u003e\\n \\u003cp\\u003eCommon Autosomal Aneuploidies\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.868501529051988%\\\"\\u003e\\n \\u003cp\\u003eSex Chromosome Aneuploidy\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.8491335372069315%\\\"\\u003e\\n \\u003cp\\u003eRare Autosomal Aneuploidy\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.053007135575942%\\\"\\u003e\\n \\u003cp\\u003eCNVs（P/LP)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.523955147808358%\\\"\\u003e\\n \\u003cp\\u003eCNVs\\u003c/p\\u003e\\n \\u003cp\\u003e(VUS)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eT21\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eT18\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eT13\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003eAbnormality of a single ultrasonic soft marker\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e774(56.13%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e699(90.31%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e75(9.69%\\u003c/strong\\u003e\\u003cstrong\\u003e)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e26(3.36%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e10(1.29%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e1(0.13%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e5(0.65%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e1(0.13%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e24(3.10%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e8(1.03%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eThickened nuchal translucency\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e225(16.32%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e184(81.78%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e41(18.22%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e16(7.11%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e6(2.67%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e1(0.44%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e2(0.89%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e12(5.93%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e4(1.78%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eAplasia/Hypoplasia of the nasal bone\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e29(2.10%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e28(96.55%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e1(3.45%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e1(3.45%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eIntracardiac\\u0026nbsp;echogenic\\u0026nbsp;focus\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e48(3.48%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e48(100%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003ePersistent left superior vena cava\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e12(0.87%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e12(100%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eVentriculomegaly\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e104(7.54%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e97(93.27%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e7(6.73%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e4(3.85%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e2(1.92%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e1(0.96%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eSingle umbilical artery\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e29(2.10%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e27(93.10%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e2(6.90%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e1(3.45%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e1(3.45%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eChoroid plexus cyst\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e127(9.21%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e118(92.91%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e9(7.09%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e2(1.57%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e3(2.36%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e3(2.36%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e1(0.79%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eEchogenic bowel\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e45(3.26%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e44(97.78%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e1(2.22%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e1(2.22%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eEnlarged posterior fossa\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e14(1.02%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e14(100%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eRenal echogenicity enhancement\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e7(0.51%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e5(71.43%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e2(28.57%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e2(28.57%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003ePolyhydramnios\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e38(2.76%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e37(97.37%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e1(2.63%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e1(2.67%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eOligohydramnios\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e10(0.73%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e9(90.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e1(10.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e 1(10%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eNuchal cystic hygroma\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e36(2.61%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e28(77.78%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e8(22.22%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e4(11.11%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e1(2.78%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e3(8.33%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\"\\u003e\\n \\u003cp\\u003eAberrant subclavian artery\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e50(3.63%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e48(96.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e2(4.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e2(4.00%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003eAbnormality of multiple\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003eultrasonic soft markers\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e70(5.08%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e63(90.00%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e7(10.00%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e1(1.43%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e2(2.86%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e3(4.29%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e1(1.43%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003eStructural anomaly in a single system\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e447(32.41%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e417(93.29%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e30\\u003c/strong\\u003e\\u003cstrong\\u003e(\\u003c/strong\\u003e\\u003cstrong\\u003e6.71%\\u003c/strong\\u003e\\u003cstrong\\u003e)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e4(0.90%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e2(0.45%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e\\u0026nbsp;\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e1(0.22%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e15(3.35%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e8(1.79%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eCardiovascular system\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e175(12.69%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e165(94.29%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e10(5.71%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e2(1.14%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e6(3.43%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e2(1.14%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eMusculoskeletal system\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e21(1.52%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e17(80.95%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e4(19.05%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e1(4.76%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e2(9.52%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e1(4.76%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003ePleural abnormalities\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e46(3.34%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e46(100%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eGenito-urinary system\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e91(6.60%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e86(94.51%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e5(5.49%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e2(2.20%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e3(3.30%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eAbdominal abnormalities\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e49(3.55%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e43(87.76%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e6(12.24%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e2(4.08%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e1(2.04%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e2(4.08%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e1(2.04%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eFaciocervical system\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e13(0.94%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e13(100%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eVascular malformations\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e7(0.51%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e7（100%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eCentral nervous system\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e33(2.39%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e28(84.85%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e5(15.15%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e1(3.03%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e3(9.09%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e1(3.03%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eSacrococcygeal teratoma\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e12(0.87%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e12(100%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003eStructural anomaly in\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003emultiple systems\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e27(1.96%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e22(81.48%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e5\\u003c/strong\\u003e\\u003cstrong\\u003e(\\u003c/strong\\u003e\\u003cstrong\\u003e18.52%\\u003c/strong\\u003e\\u003cstrong\\u003e)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e1(3.70%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e2(7.41%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e2(7.41%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003eStructural anomaly\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003ecombined with soft marker\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003eabnormalities\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e61(4.42%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e51(83.61%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e10\\u003c/strong\\u003e\\u003cstrong\\u003e(\\u003c/strong\\u003e\\u003cstrong\\u003e16.39%\\u003c/strong\\u003e\\u003cstrong\\u003e)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e2(3.28%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e3(4.92%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e5(8.20%)\\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e\\u003cstrong\\u003e \\u003c/strong\\u003e\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"17.857142857142858%\\\"\\u003e\\n \\u003cp\\u003eTotal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.183673469387756%\\\"\\u003e\\n \\u003cp\\u003e1379\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"9.693877551020408%\\\"\\u003e\\n \\u003cp\\u003e1252(90.79%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.46938775510204%\\\"\\u003e\\n \\u003cp\\u003e127(9.21%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.673469387755102%\\\"\\u003e\\n \\u003cp\\u003e34(2.47%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.755102040816326%\\\"\\u003e\\n \\u003cp\\u003e17(1.23%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.040816326530612%\\\"\\u003e\\n \\u003cp\\u003e1(0.07%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.877551020408163%\\\"\\u003e\\n \\u003cp\\u003e8(0.58%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"7.857142857142857%\\\"\\u003e\\n \\u003cp\\u003e1(0.07%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"8.061224489795919%\\\"\\u003e\\n \\u003cp\\u003e49(3.55%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"6.530612244897959%\\\"\\u003e\\n \\u003cp\\u003e17(1.24%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003c/tbody\\u003e\\n\\u003c/table\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003eOther indications.\\u003c/strong\\u003e\\u0026nbsp; Other indications of prenatal examination, such as (intrauterine growth retardation, history of adverse pregnancy or family history, maternal request, in vitro fertilization, drug use or exposure to toxic substances during pregnancy, consanguineous marriage, and parental anxiety). Among 960 cases of other indications, CMA results showed that 8 cases (0.83%,8/960) had chromosomal aneuploidy and 41 cases (4.27%,41/960) had CNV abnormalities (see Table 1). Among 960 cases with other indications, there were 633 cases with adverse pregnancy or family history, including 6 cases with chromosome aneuploidy (0.95%,6/633,) and 22 cases with CNVs abnormality (6.47%,22/633). Among 120 cases of intrauterine growth retardation, 5 cases were CNVs(P/LP) and 2 cases were CNVs(VUS). Five cases of CNVs with obvious clinical significance included 1 case of 5q23.2q35.3 duplication with Xq23q28 deletion, 1 case of 16p11.2 deletion syndrome, 2 cases of Wolf-Hirschhorn syndrome and 1case of 13q31.1q32.1 deletion.\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003eDetection of ROH by CMA platform\\u003c/strong\\u003e. \\u0026nbsp;In this study, we used CMA to detect 11 cases of ROH ((see Schedule 2), including 1 case of the whole X chromosome, 1 case of the whole chromosome 4, 2 cases of the long arm fragment of chromosome 15, 1 case of the short arm fragment of chromosome 16, 2 cases of the partial fragment of chromosome 8, 1 case of the short arm fragment of chromosome 5, 1 case of the long arm fragment of chromosome 12 and 8.\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003ePregnancy follow-up outcome. \\u0026nbsp;\\u003c/strong\\u003eA total of 4211 pregnant women were followed up (see Table 6). Among 3731 pregnant women with normal CMA results, 3568 cases (3568 / 3731,95.63 % ) were normal after birth, and 100 cases were terminated for various reasons (100/3731, 2.68%), Among them, 56 cases were induced by abnormal ultrasound structure, 11 cases were fetal death, 11 cases were accidental abortion, 4 cases were induced by monogenic disease, 5 cases were mosaicism of karyotype results, 4 cases were placental abruption, 9 cases did not want to induce labor for personal reasons. 45 cases (45 / 3731,1.21 %) of fetal abnormalities occurred after birth. The most common abnormality was cardiac structural abnormalities (15 / 45,33.33 %), followed by death after birth (5 / 45,11.11 %).45 cases (45/3731, 1.21%) had fetal abnormalities after birth. The main abnormality was cardiac structural abnormality (15/45, 33.33%), followed by death after birth (5/45, 11.11%). Among the 404 pregnant women with CNVs (P / LP), 332 (332 / 404,82.18 %) terminated pregnancy and 70 (70 / 404,17.33 % ) continued pregnancy. Among them, 65 (65 / 404,16.09 % ) fetuses were normal after birth, and 5 ( 5 / 404,1.24 % ) fetuses were abnormal after birth. These 5 abnormalities included 1 case of post-natal death caused by trisomy 2 mosaicism, 3 cases of ichthyosis, 1 case of atrial septal defect and ventricular septal defect. Among 76 pregnant women with VUS, 30 (30/76,39.47%) chose to terminate their pregnancy, and 45 (45/76,59.21%) chose to continue their pregnancy. Among them, 44\\u0026nbsp;（44/76,57.89%）fetuses were normal after birth, and 1(1/76,1.32%) fetus was abnormal after birth (six fingers in the right hand). Follow-up information of 21 pregnant women was refused, 18 cases had normal CMA results, 2 cases had CNVs(P/LP) results and 1 case had VUS results.\\u003c/p\\u003e\\n\\u003cp\\u003eTable 6 \\u0026nbsp;Follow-up results of 4211 pregnant women tested for CMA\\u003c/p\\u003e\\n\\u003ctable border=\\\"1\\\" cellspacing=\\\"0\\\" cellpadding=\\\"0\\\" width=\\\"861\\\"\\u003e\\n \\u003ctbody\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"23.13953488372093%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eCMA results \\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.651162790697674%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eTotal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.209302325581394%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eNormal child after birth\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.30232558139535%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eInduced delivery\\u0026nbsp;\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.558139534883722%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eAbnormal child after birth\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"13.13953488372093%\\\" valign=\\\"bottom\\\"\\u003e\\n \\u003cp\\u003eRefuse\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"23.13953488372093%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003eNormal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.651162790697674%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e3731(88.60%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.209302325581394%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e3568(95.63%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.30232558139535%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e100(2.68%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.558139534883722%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e45(1.21%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"13.13953488372093%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e18(0.48%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"23.13953488372093%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003eCNVs(P/LP)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.651162790697674%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e404(9.59%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.209302325581394%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e65(16.09%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.30232558139535%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e332(82.18%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.558139534883722%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e5(1.24%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"13.13953488372093%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e2(0.49%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"23.13953488372093%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003eCNVs(VUS)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.651162790697674%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e76(1.81%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.209302325581394%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e44（57.89%）\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.30232558139535%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e30(39.47%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.558139534883722%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e1(1.32%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"13.13953488372093%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e1(1.32%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003ctr\\u003e\\n \\u003ctd width=\\\"23.13953488372093%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003eTotal\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.651162790697674%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e4211\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.209302325581394%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e3677(87.32%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"14.30232558139535%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e462(10.97%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"17.558139534883722%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e51(1.21%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003ctd width=\\\"13.13953488372093%\\\" valign=\\\"top\\\"\\u003e\\n \\u003cp\\u003e21(0.50%)\\u003c/p\\u003e\\n \\u003c/td\\u003e\\n \\u003c/tr\\u003e\\n \\u003c/tbody\\u003e\\n\\u003c/table\\u003e\"},{\"header\":\"Discussion\",\"content\":\"\\u003cp\\u003eIn this study, we discussed the clinical value of CMA detection technology in prenatal diagnosis of 4211 cases of pregnancy. The abnormal detection rate of CMA was 11.4%, including 5.82% of chromosomal numerical abnormality and 5.58% of CNVs. The CMA detection rate of clinically significant CNVs(P or LP) was 3.73%, which was significantly lower than 7.8% ( 505 / 7400 ) of clinically significant CNVs detected in the previous Dutch 7400 prenatal high-risk population \\u003csup\\u003e12\\u003c/sup\\u003e and higher than 2.6% ( 134 / 5000 ) of clinically significant CNVs detected by SNP analysis in 5000 pregnancy cohorts. According to the indications of invasive prenatal examination, they were divided into five groups: AMA only, abnormal MSS results, abnormal NIPT results, abnormal ultrasound and other indications. The detection rate of the abnormal NIPT results group was the highest (39.1%, 224 / 573), followed by the abnormal ultrasound group (9.2%, 127 / 1379), and the detection rate of other indications ( adverse pregnancy history or family history, etc. ) was the lowest ( 5.2%, 50 / 960 ).\\u003c/p\\u003e \\u003cp\\u003eIn the AMA-only group, 2.35%(11/467) of AMA fetal CMA detected clinically significant CNVs, which was similar to 0.8% ~2.0% reported by Fiorentino. et al.\\u003csup\\u003e14\\u003c/sup\\u003eand 1.7% reported by Wapner. et al.\\u003csup\\u003e15\\u003c/sup\\u003e. The variation of chromosomes may be related to age composition. Our results show that the chromosomal abnormality rate of the 40\\u0026thinsp;~\\u0026thinsp;44 age group is significantly higher than that of the 35\\u0026thinsp;~\\u0026thinsp;39 age group. With the increase of age, the rate of chromosomal numerical abnormality increases significantly, while the rate of CNVs in AMA fetuses does not have this trend, which is consistent with previous studies\\u003csup\\u003e13\\u003c/sup\\u003e.\\u003c/p\\u003e \\u003cp\\u003eIn the abnormal MSS results group, CMA found 2.52%(21/832) of clinically significant CNVs in the fetus with abnormal MSS results, which was significantly higher than that in the previous prospective study, which found 1.55%(17/1094) of clinically significant CNVs in the fetus with abnormal Down syndrome screening results\\u003csup\\u003e16\\u003c/sup\\u003e,and which was also lower than the 3.1% ( 22 / 713 ) clinically significant CNVs detected in the MSS abnormal group reported by Kowalczyk ,K. et al .\\u003c/p\\u003e \\u003cp\\u003eIn the abnormal NIPT results group, CMA found 8.55%(49/573) of clinically significant CNVs in the fetus with the abnormal NIPT results group. In this study, abnormal NIPT results included chromosome aneuploidy and CNVs of all 24 chromosomes detected by NIPT. NIPT has been widely used to detect fetal trisomy 13, 18 and 21 (T13, T18 and T21) and sex chromosome aneuploidy. However, the screening performance of NIPT for other fetal chromosomal aneuploidies and CNVs is still limited. In this study, we only analyzed the cases with abnormal NIPT results, and we did not analyze the cases with normal NIPT results, so it is impossible to specifically evaluate the application of NIPT in high-risk populations.\\u003c/p\\u003e \\u003cp\\u003eIn the ultrasound abnormality group, CMA identified 3.55% ( 49 / 1372 ) of clinically significant CNVs in fetuses with prenatal ultrasound abnormalities, which was significantly lower than the incidence of CNVs with ultrasound abnormalities in a large Chinese population study of 7.9%(389/4918)\\u003csup\\u003e17\\u003c/sup\\u003e. In this study, the detection rate of abnormal CMA of single ultrasonic soft markers was 9.69%(75/774) ( 75 / 774 ), the detection rate of multiple ultrasonic markers was 10% ( 7 / 70 ), and the detection rate of single system structure was 6.71% ( 30 / 447 ). The detection rate of multiple system structural abnormalities was 18.52% (5 / 27). Our results were significantly higher than the detection rate of CMA for single ultrasonic soft markers, multiple ultrasound soft markers, single system structural abnormalities, and multiple system structural abnormalities in a Meta-Analysis (2.15%, 3.44%, 3.66%, 8.57%, respectively) \\u003csup\\u003e18\\u003c/sup\\u003e.\\u003c/p\\u003e \\u003cp\\u003eUltrasound soft markers are common in fetuses with chromosomal abnormalities, including absent nasal bone or dysplasia, thickened nuchal translucency ventriculomegaly, choroid plexus cysts, aberrant subclavian artery, persistent left superior vena cava, intracardiac echogenic focus, renal echogenicity enhancement, polyhydramnios or oligohydramnios, and single umbilical artery \\u003csup\\u003e19\\u003c/sup\\u003e. These nonspecific and slight fetal structural changes may be normal and disappear with the progress of pregnancy. but they may also indicate an increased risk of pathogenic CNVs in the fetus. Here, we noted that the incidence of pathogenic or likely pathogenic CNV in fetuses with a single ultrasound soft marker was 3.10%(24/774), but the incidence of pathogenic or likely pathogenic CNVs in fetuses with multiple ultrasound soft markers was 4.29%(3/70). It can be clearly seen that the pathogenic CNVs rate increases with the increase of the number of ultrasound soft markers. It is suggested that CMA should be performed in pregnant women when two or more ultrasound soft markers are detected by ultrasound. In this study, 2 cases of 6p25 deletion syndrome were found, and the clinical puncture indications all suggested thickened nuchal translucency. 3 cases of fetal renal cysts and diabetes syndrome showed enhanced renal echo by prenatal ultrasound. This is consistent with the published literature that the most common pathogenic CNV in fetuses with renal and urinary tract abnormalities is 17q12 microdeletion, which leads to renal cysts and diabetic syndrome. At present, the interpretation of many ultrasound soft markers still needs the evaluation and verification of a large number of clinical data. Previous research showed a small but not statistically significant increase in the probability of clinically relevant CNVs in fetuses with one or more ultrasound soft markers \\u003csup\\u003e20\\u003c/sup\\u003e. Consistent with our results, there was no statistically significant difference in the incidence of clinically relevant submicroscopic CNVs between fetuses with one or more ultrasound soft markers and fetuses with multiple ultrasound soft markers (3.10% vs. 4.29%, P\\u0026thinsp;=\\u0026thinsp;0.853).\\u003c/p\\u003e \\u003cp\\u003eThe probability of pathogenic CNVs in fetuses with ultrasound structural abnormalities limited to one system is 3.1\\u0026ndash;7.9%, which depends on the anatomical system. For structural anomalies of multiple systems, the probability of carrying pathogenic CNVs increased to 9.1%\\u003csup\\u003e21\\u003c/sup\\u003e. The most common organ systems associated with abnormal CMA results are the heart, kidney, bone, genitourinary system and central nervous system [\\u003cspan additionalcitationids=\\\"CR8 CR9\\\" citationid=\\\"CR7\\\" class=\\\"CitationRef\\\"\\u003e7\\u003c/span\\u003e\\u0026ndash;\\u003cspan citationid=\\\"CR10\\\" class=\\\"CitationRef\\\"\\u003e10\\u003c/span\\u003e],and our research results agree with these views. Among the 1379 fetuses with ultrasound structural abnormalities, the overall detection rate of pathogenic CNV with multiple system abnormalities was 7.41%. However, in a single system malformation, the detection rates of CMA for pathogenic CMVs in skeletal, urinary, neurological and cardiovascular malformations were 9.52%, 2.2%, 9.09% and 3.43% respectively. These results show that CMA should be recommended when ultrasound examination shows structural abnormalities of multiple fetal systems, and pregnant women with obvious skeletal, urinary, neurological and cardiac abnormalities. Some pathogenic CNVs are related to specific clinical phenotypes. In this study, 2 cases of Emanuel syndrome were found, CMA results showed 11q23.3q25 region duplication and 22q11.1q11.21 region duplication. Prenatal ultrasound in 1 case showed that the development of a single umbilical artery and cerebellar vermis was small. 1 case suggested posterior fossa malformation, which was the most common defect of ES and might be diagnosed in early pregnancy\\u003csup\\u003e22\\u003c/sup\\u003e. The clinical phenotype of patients with 22q11.21 deletion is variable, such as heart defect, palatal abnormality, developmental retardation and immunodeficiency. In this study, 2 fetuses with 22q11.2 proximal deletion were found to have cardiac defects,1 case showed the right foot varus and left ventricular punctate strong echo, and the other showed right aortic arch. 22q11.2 deletion is often found in fetuses with prenatal heart defects\\u003csup\\u003e23\\u003c/sup\\u003e. Therefore, CMA can be used as a detection method of prenatal echocardiography abnormalities.\\u003c/p\\u003e \\u003cp\\u003eSome recurrent microdeletion/duplication syndromes lead to incompletely dominant and variable expression phenotypes, and the penetrance rate is generally between 10\\u0026ndash;40%\\u003csup\\u003e24,25\\u003c/sup\\u003e. The penetrance rate of 1q21.1 deletion syndrome was 37\\u0026ndash;40%. In this study, 10 cases were found, only2 cases had ultrasound abnormalities, 1 case had persistent left superior vena cava and 1 case had microcephaly. Among other fetuses, 6 fetuses terminated pregnancy, and 4 fetuses were normal after birth.\\u003c/p\\u003e \\u003cp\\u003eThe penetrance rate of 16p13.11 deletion syndrome (including MYH11) was about 12.3%.4 cases were found Among them, 1 case showed NT thickening, 1 case showed high risk of NIPT result, and 2 cases were normal after birth. The penetrance rate of 15q11.2 deletion syndrome was 8\\u0026ndash;12%. In this study, 10 cases were found, including 2 cases of NT thickening, 1 case of absence of nasal bone, the remaining 3 cases of advanced age, 2 cases of pregnant women's requirements, 1 case of adverse pregnancy history and 1 case of high risk of MSS. Only one of the 10 cases of 15q11.2 deletion syndrome was induced because of the absence of nasal bone, and the others were normal after birth. The penetrance rate of proximal 16p11.2 microdeletion syndrome was 21\\u0026ndash;47%. In this study, 4 cases were found, including 1 case of intrauterine growth retardation, 1 case of nuchal cystic hygroma and pleural effusion, 1 case of ventricular septal defect and 1 case of left hand with six fingers. All 4 cases were abnormal by ultrasound, and the pregnancy was terminated after follow-up. The penetrance rate of 16p11.2 duplication syndrome was 27\\u0026ndash;34%. This study found 3 cases, including 1 case of double renal pelvis collection system separation, and the other two cases of high risk of NIPT or MSS. Pregnancy was terminated after follow-up. The penetrance rate of 16p13.11 duplication syndrome was 7\\u0026ndash;11%. This duplication was found in 9 cases. The clinical indications of 9 cases were advanced age, high risk of MSS and NIPT and adverse pregnancy history, but no abnormal ultrasound was found. After follow-up, only 1 case terminated pregnancy, and the other 8 cases were normal after birth. The penetrance rate of proximal 16p12.2 microdeletion syndrome was 11\\u0026ndash;16%, and this defect was found in 7 cases, including 2 cases of single umbilical artery, 1 case of choroid plexus cyst, 1 case of advanced age, 2 cases of MSS, and 1 case of adverse pregnancy history. After follow-up, 2 cases of single umbilical artery fetuses were induced labor, 1 case of MSS was induced labor, and the other 4 cases were normal after birth. The penetrance rate of 22q11.2 duplication syndrome was 14\\u0026ndash;31%, only 1 case had ventricular septal defect, and the remaining 8 cases were AMA or high risk of NIPT. After follow-up, only one case was normal after birth, and the remaining 8 cases were terminated. Therefore, these potential neurodevelopmental sites may have some structural abnormalities and may not have obvious clinical indications during pregnancy, which will increase parents ' anxiety about their development. The specific final phenotype is unknown, so it also brings great difficulties to genetic counseling.\\u003c/p\\u003e \\u003cp\\u003eThe single nucleotide polymorphism array (SNP array) technology of CMA can detect not only CNVs, but also ROH, UPD and low-level mosaics\\u003csup\\u003e26\\u003c/sup\\u003e. The existence of ROH suggests uniparental disomy (UPD). For most chromosomes, UPD has no clinical symptoms. However, some chromosomes contain parental-specific expression genes (genetic imprinting), and UPD of these chromosomes can lead to clinically observable symptoms. UPD on maternal chromosomes 7,11,14,15 and 20 and UPD on paternal chromosomes 6,11,14,15 and 20 are associated with phenotypic growth, neurodevelopment and behavioral abnormalities\\u003csup\\u003e27\\u003c/sup\\u003e. In this study, there are two cases of fragmented ROH involving the long arm of chromosome 15, because the results of CMA test can only indicate uniparental isodisomy, and 2 cases did not undergo parental testing to determine the source., and 2 cases did not undergo parental testing to determine the source. We speculate that the ROH region suggested by the CMA on the long arm of chromosome 15 is uniparental isodisomy, and the rest is uniparental heterodisomy, which may lead to the fetus phenotype of Prader-Willi Syndrome or Angelman Syndrome. Finally, the couple decided to induce labor. A case of ROH on the short arm of chromosome 5 was reported。The karyotype analysis result of this case was 46, XY, del (5) (p13) [32]/46, XY [70], which led to the lack of mosaicism in the key region of cridu chat syndrome. Finally, the couple decided to induce labor. For multiple large fragments of multiple chromosomes, ROH may suggest that the parents of the subjects have close or distant relationships\\u003csup\\u003e28\\u003c/sup\\u003e. The case of multiple chromosome fragments ROH in this study was determined by genetic counseling to be a consanguineous marriage, and finally the couple decided to induce labor. In this study, the whole chromosome homozygous region was detected on chromosome 4, and the later ultrasound indicated that the fetus had intrauterine growth restriction. After follow-up, the case was induced by intrauterine death. For 6 cases involving other chromosome fragmentary ROH regions, both couples continued pregnancy, and the fetuses were normal after birth. Therefore, it is necessary to carefully examine the fetal structure and strengthen the ultrasound monitoring of pregnancy for ROH detection.\\u003c/p\\u003e \\u003cp\\u003eIn view of CMA's powerful diagnostic ability for pathogenic CNVs, many VUS with unclear phenotypic correlation have been detected. In this study, the detection rate of copy number variants of VUS was 1.85%, which was consistent with previous literature reports(1.6%),but lower than the detection rate of another 5026 pregnant cohort (4.6%)\\u003csup\\u003e29\\u003c/sup\\u003e. These differences may be caused by different report interpretation criteria and clinical interpretation bias. VUS in prenatal diagnosis may lead to difficulties in genetic counseling, pressure on pregnant women and their families, and excessive termination of pregnancy. The method of accurately evaluating VUS cases needs to be further determined by clinicians. VUS cases are most likely to have a good pregnancy outcome. Therefore, cases with abnormal VUS need further follow-up. This may be of great significance for the formulation of future genetic counseling guidelines.\\u003c/p\\u003e \\u003cp\\u003eDue to the lack of detailed genotype-phenotype information of some fetuses, this retrospective study is limited in data acquisition. For example, some pregnant women have poor compliance, or they refuse to do it because of the cost of testing, or some pregnant women lose information due to referral, which will lead to the omission of some fetuses with high-risk indications, which may eventually lead to bias in the results. There are also some fetuses with small gestational age, the relevant clinical examination may not be comprehensive, resulting in some clinical phenotypes not described in detail. Finally, the lack of parental data complicates the evaluation of the pathogenicity of some CNVs, which poses a challenge to our clinical genetic counseling.\\u003c/p\\u003e \\u003cp\\u003eThe CMA test is suitable for all prenatal clinical indications because it increases the detection of clinically meaningful CNVs. Clinically, clinicians should inform all pregnant women of the risk of CNVs that are currently undetectable by biochemical screening or most of the currently available NIPT platforms and the value of CMA in prenatal diagnosis for their choice.\\u003c/p\\u003e\"},{\"header\":\"Materials and methods\",\"content\":\"\\u003cp\\u003e \\u003cb\\u003ePatients and clinical indications\\u003c/b\\u003e. All patients who underwent invasive prenatal diagnosis by CMA at Linyi Women and Children's Hospital between 2016 and 2022 in Shandong, China. Clinical samples (chorionic villi and amniotic fluid) were obtained by ultrasound-guided abdominal chorionic villi sampling (CVS) and amniocentesis. After receiving detailed genetic counseling before testing, each participant signed a written informed consent form. This study was approved by the Ethics Committee of Linyi Maternal and Child Hospital (No. KYL-YXLL-2022017). The research was conducted in accordance with the relevant guidelines and clinical norms.\\u003c/p\\u003e \\u003cp\\u003e \\u003cb\\u003eCMA analysis.\\u003c/b\\u003e Fetal uncultured genomic DNA was extracted by DNA extraction kit (TIANamp Micro DNA Kit, China). The whole genome CytoScan 750K array (Thermo Fisher Scientific, USA) was used for CMA according to the manufacturer's recommendation. The original data were analyzed by chromosome analysis software 4.2 (Thermo Fisher Scientific, USA) of genome version GRCh37/hg19. The results were classified according to genetic mode (familial or ab initio), CNV length, genes involved, their classification and literature information. Online databases consulted included PubMed (\\u003cspan class=\\\"ExternalRef\\\"\\u003e\\u003cspan class=\\\"RefSource\\\"\\u003ehttp://www.ncbi.nlm.nih.gov/PubMed\\u003c/span\\u003e\\u003cspan address=\\\"http://www.ncbi.nlm.nih.gov/PubMed\\\" targettype=\\\"URL\\\" class=\\\"RefTarget\\\"\\u003e\\u003c/span\\u003e\\u003c/span\\u003e), Decipher (\\u003cspan class=\\\"ExternalRef\\\"\\u003e\\u003cspan class=\\\"RefSource\\\"\\u003ehttps://www.deciphergenomics.org/),UCSC(https://genome.ucsc.edu/index.html\\u003c/span\\u003e\\u003cspan address=\\\"https://www.deciphergenomics.org/),UCSC(https://genome.ucsc.edu/index.html\\\" targettype=\\\"URL\\\" class=\\\"RefTarget\\\"\\u003e\\u003c/span\\u003e\\u003c/span\\u003e) and ClinGen (\\u003cspan class=\\\"ExternalRef\\\"\\u003e\\u003cspan class=\\\"RefSource\\\"\\u003ehttps://search.clinicalgenome.org/\\u003c/span\\u003e\\u003cspan address=\\\"https://search.clinicalgenome.org/\\\" targettype=\\\"URL\\\" class=\\\"RefTarget\\\"\\u003e\\u003c/span\\u003e\\u003c/span\\u003e), clinvar (\\u003cspan class=\\\"ExternalRef\\\"\\u003e\\u003cspan class=\\\"RefSource\\\"\\u003ehttps://www.ncbi.nlm.nih.gov/clinvar/\\u003c/span\\u003e\\u003cspan address=\\\"https://www.ncbi.nlm.nih.gov/clinvar/\\\" targettype=\\\"URL\\\" class=\\\"RefTarget\\\"\\u003e\\u003c/span\\u003e\\u003c/span\\u003e), HGMD (\\u003cspan class=\\\"ExternalRef\\\"\\u003e\\u003cspan class=\\\"RefSource\\\"\\u003ehttps://www.hgmd.cf.ac.uk/ac/index.php\\u003c/span\\u003e\\u003cspan address=\\\"https://www.hgmd.cf.ac.uk/ac/index.php\\\" targettype=\\\"URL\\\" class=\\\"RefTarget\\\"\\u003e\\u003c/span\\u003e\\u003c/span\\u003e) and DGV(\\u003cspan class=\\\"ExternalRef\\\"\\u003e\\u003cspan class=\\\"RefSource\\\"\\u003ehttp://dgv.tcag.ca/dgv/app/home\\u003c/span\\u003e\\u003cspan address=\\\"http://dgv.tcag.ca/dgv/app/home\\\" targettype=\\\"URL\\\" class=\\\"RefTarget\\\"\\u003e\\u003c/span\\u003e\\u003c/span\\u003e). The results were classified as pathogenic (P), likely pathogenic (LP), variant of uncertain significance (VUS) and normal (including likely benign and benign) according to the 2019 ACMG guidelines. Benign (common polymorphism) and/or likely benign CNVs were detected, and the reported results were normal. ROH(Regions of Homozygosity)involving chr 6, chr 7, chr 11, chr 14, chr 15, chr 20 with 5 Mb (at the end of the chromosome) or 10 Mb (not at the end of the chromosome) on one of the chromosomes was also reported, while no ROH was seen on the other chromosomes.\\u003c/p\\u003e \\u003cp\\u003e \\u003cb\\u003eStatistical analysis.\\u003c/b\\u003eSPSS 21.0 (Chicago, USA) was used for statistical analysis. Classified variables are expressed as numbers and percentages, and the chi-square test was used for comparison. Bilateral p value\\u0026thinsp;\\u0026lt;\\u0026thinsp;0.05 was considered statistically significant. The linear regression models with gamma value were used to assess the changes of abnormal rate in different age groups.\\u003c/p\\u003e\"},{\"header\":\"Declarations\",\"content\":\"\\u003cp\\u003e \\u003ch2\\u003eDeclaration of competing interest\\u003c/h2\\u003e \\u003cp\\u003eThe authors have no conflict of interests to declare.\\u003c/p\\u003e \\u003c/p\\u003e\\u003ch2\\u003eAuthor Contribution\\u003c/h2\\u003e\\u003cp\\u003eHF.L.performed the experiments,analysed data,and co-wrote the manuscript.J.H.performed the clinical diagnoses for samples'recruitment,and analysed data. JG.Q. and L.Z. performed the experiments. QY.W. supervised the project, performed the clinical diagnoses for samples\\u0026rsquo; recruitment. JP.Z. supervised the project, designed the study, obtained funding, analysed data, and co-wrote the manuscript. All authors read and approved the final manuscript.\\u003c/p\\u003e\\u003ch2\\u003eAcknowledgements\\u003c/h2\\u003e \\u003cp\\u003eThis work was supported by the National Key Research \\u0026amp; Development Program of Liyin,China(2022YX0111)\\u003c/p\\u003e\\u003ch2\\u003eData availability\\u003c/h2\\u003e \\u003cp\\u003eThe data that support the findings of this study are available from the corresponding author upon reasonable request.\\u003c/p\\u003e\"},{\"header\":\"References\",\"content\":\"\\u003col\\u003e\\u003cli\\u003e\\u003cspan\\u003eCommittee on Genetics and the Society for Maternal-Fetal Medicine. Committee Opinion No. 682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology. Obstet Gynecol. 128,e262\\u0026ndash;e268(2016).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eHay, S.B. et al. ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient? Prenat Diagn.38,184\\u0026ndash;189(2018).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eArmour, C.M. et al. Practice guideline: Joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada. J Med Genet.55,215\\u0026ndash;221(2018).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eGanapathi, M., Nahum,O., Levy B. Prenatal Diagnosis Using Chromosomal SNP Microarrays. Methods Mol Biol. 1885,187\\u0026ndash;205(2019).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eCheng, S.S.W. et al. Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong. Am J Med Genet C Semin Med Genet. 181,196\\u0026ndash;207(2019).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eSrebniak, M.I.et al. Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs. Eur J Hum Genet. 24,645\\u0026ndash;651(2016).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eZhang,Z. et al. Pregnancy outcomes of fetuses with congenital heart disease after a prenatal diagnosis with chromosome microarray. Prenat Diagn. 42,79\\u0026ndash;86(2022).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eHuang, R. et al. Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing. Hum Genet. 142,835\\u0026ndash;847(2023).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eXie, X. et al. Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities. Int J Gen Med.14,4239\\u0026ndash;4246(2021).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eDonnelly, J.C. et al. Association of copy number variants with specific ultrasonographically detected fetal anomalies. Obstet Gynecol.124,83\\u0026ndash;90(2014).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eXia, M. et al. Application of chromosome microarray analysis in prenatal diagnosis. BMC Pregnancy Child birth. 20,696(2020).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eKowalczyk, K.et al. Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies. Genes (Basel). 13,690(2022).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eXiang, J.et al. Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies. Front Genet. 11,571219(2020).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eFiorentino, F.et al. Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet.21,725\\u0026ndash;730(2013).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eWapner, R.J. et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England journal of medicine.367,2175\\u0026ndash;2184(2012).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eWang,J. et al. Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing. \\u003cem\\u003eAm J Obstet Gynecol.\\u003c/em\\u003e219,287.e1-287.e18 (2018).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eCai, M.et al. Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China. Sci Rep.13,7242(2023).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eMastromoro, G. et al. Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis. Diagnostics (Basel). 12,575(2022).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eYuan, X., Yong, W., Dai, L., Wang, W., Wu, L. The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study. Ann Transl Med. 11,111(2023).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eCai,M. et al. Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers. BMC Med Genomics.14,19(2021).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eDe Wit,M.C. et al. Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature. Ultrasound Obstet Gynecol. 43,139\\u0026ndash;146(2014).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003ePiwowarczyk, P. et al. Prenatal diagnosis of Emanuel syndrome - case series and review of the literature. J Obstet Gynaecol. 42,2615\\u0026ndash;2620(2022).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eXue, J.et al. 22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation. Transl Pediatr.10,3273\\u0026ndash;3281(2021).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eKirov, G. et al. The penetrance of copy number variations for schizophrenia and developmental delay. Biol Psychiatry.75,378\\u0026ndash;385(2014).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eRosenfeld, JA., Coe,B.P., Eichler, E.E., Cuckle, H., Shaffer, LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med.15, 478\\u0026ndash;481(2013).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eSahoo,T. et al. Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genet Med.19,83\\u0026ndash;89(2017).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eGonzales, P.R. et al. Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 24,255\\u0026ndash;261(2022).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eKirin, M.et al.Genomic runs of homozygosity record population history and consanguinity. PLoS One. 5,e13996(2010).\\u003c/span\\u003e\\u003c/li\\u003e \\u003cli\\u003e\\u003cspan\\u003eWang, J.C., Radcliff,J., Coe, S.J., Mahon, L.W. Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies. Prenat Diagn. 39,137\\u0026ndash;156(2019).\\u003c/span\\u003e\\u003c/li\\u003e\\u003c/ol\\u003e\"}],\"fulltextSource\":\"\",\"fullText\":\"\",\"funders\":[],\"hasAdminPriorityOnWorkflow\":false,\"hasManuscriptDocX\":true,\"hasOptedInToPreprint\":true,\"hasPassedJournalQc\":\"\",\"hasAnyPriority\":false,\"hideJournal\":false,\"highlight\":\"\",\"institution\":\"\",\"isAcceptedByJournal\":true,\"isAuthorSuppliedPdf\":false,\"isDeskRejected\":\"\",\"isHiddenFromSearch\":false,\"isInQc\":false,\"isInWorkflow\":false,\"isPdf\":false,\"isPdfUpToDate\":true,\"isWithdrawnOrRetracted\":false,\"journal\":{\"display\":true,\"email\":\"info@researchsquare.com\",\"identity\":\"scientific-reports\",\"isNatureJournal\":false,\"hasQc\":true,\"allowDirectSubmit\":false,\"externalIdentity\":\"scirep\",\"sideBox\":\"Learn more about [Scientific Reports](http://www.nature.com/srep/)\",\"snPcode\":\"\",\"submissionUrl\":\"\",\"title\":\"Scientific Reports\",\"twitterHandle\":\"\",\"acdcEnabled\":true,\"dfaEnabled\":true,\"editorialSystem\":\"stoa\",\"reportingPortfolio\":\"Scientific Reports\",\"inReviewEnabled\":true,\"inReviewRevisionsEnabled\":true},\"keywords\":\"\",\"lastPublishedDoi\":\"10.21203/rs.3.rs-3810641/v1\",\"lastPublishedDoiUrl\":\"https://doi.org/10.21203/rs.3.rs-3810641/v1\",\"license\":{\"name\":\"CC BY 4.0\",\"url\":\"https://creativecommons.org/licenses/by/4.0/\"},\"manuscriptAbstract\":\"\\u003cp\\u003eWith the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the population of high-risk pregnancies is gradually increasing. In this study, 4,211 pregnant women who underwent chromosomal microarray analysis(CMA) for high-risk indications were analyzed. The results showed that the overall prenatal detection rate of CMA was 11.4%(480/4211), among which the abnormal chromosome number was 5.82%(245/4211), copy number variants༈CNVs༉was 5.58%༈235/4211༉. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 3.78% (235/4211) and 1.8% (76/4211) for variants of uncertain significance. The detection rate of abnormal chromosomes for pregnant women with AMA was 6.42%༈30/467༉, 6.01%༈50/832༉with high-risk MSS, 39.09%༈224/573༉with high-risk NIPT, 9.21%༈127/1379༉with abnormal ultrasound, and 5.1%༈49/960༉ with other indications. During follow-up, of the 4211 fetuses, 3677 fetuses (3677/4211,87.32%) were normal after birth, 462 fetuses (462/4211,10.97%) were terminated pregnancy, 51 (51/4211,1.21%) fetuses were abnormal after birth, and 21 (21/4211,0.50%) fetuses refused follow-up. These findings indicate that the diagnostic rate of CMA varies significantly among different indications, and can serve as a guide for clinicians to evaluate the application range of CMA technology in prenatal diagnosis.\\u003c/p\\u003e\",\"manuscriptTitle\":\"Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies\",\"msid\":\"\",\"msnumber\":\"\",\"nonDraftVersions\":[{\"code\":1,\"date\":\"2024-01-03 02:02:24\",\"doi\":\"10.21203/rs.3.rs-3810641/v1\",\"editorialEvents\":[{\"type\":\"communityComments\",\"content\":0},{\"type\":\"decision\",\"content\":\"Revision requested\",\"date\":\"2024-06-03T09:26:00+00:00\",\"index\":\"\",\"fulltext\":\"\"},{\"type\":\"editorInvitedReview\",\"content\":\"\",\"date\":\"2024-06-02T16:52:42+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"reviewerAgreed\",\"content\":\"170457218645562765590324958618578945768\",\"date\":\"2024-06-01T00:41:51+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"reviewerAgreed\",\"content\":\"237819070657251571963220934094596191258\",\"date\":\"2024-05-21T23:59:17+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"reviewerAgreed\",\"content\":\"46929517989575993706896187500683414231\",\"date\":\"2024-05-21T18:11:34+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"reviewerAgreed\",\"content\":\"4a5afaf1-de5f-46e4-b318-b833d05d570c\",\"date\":\"2024-04-11T13:56:02+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"editorInvitedReview\",\"content\":\"\",\"date\":\"2024-02-02T04:01:56+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"reviewerAgreed\",\"content\":\"096aeefa-64a5-42b5-a002-54c9c2ccfcfc\",\"date\":\"2024-01-17T09:06:37+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"reviewersInvited\",\"content\":\"\",\"date\":\"2024-01-17T05:01:26+00:00\",\"index\":\"\",\"fulltext\":\"\"},{\"type\":\"editorAssigned\",\"content\":\"\",\"date\":\"2024-01-17T04:48:33+00:00\",\"index\":\"\",\"fulltext\":\"\"},{\"type\":\"editorInvited\",\"content\":\"\",\"date\":\"2024-01-04T18:59:49+00:00\",\"index\":\"\",\"fulltext\":\"\"},{\"type\":\"checksComplete\",\"content\":\"\",\"date\":\"2023-12-28T09:30:23+00:00\",\"index\":\"\",\"fulltext\":\"\"},{\"type\":\"submitted\",\"content\":\"Scientific Reports\",\"date\":\"2023-12-27T05:17:07+00:00\",\"index\":\"\",\"fulltext\":\"\"}],\"status\":\"published\",\"journal\":{\"display\":true,\"email\":\"info@researchsquare.com\",\"identity\":\"scientific-reports\",\"isNatureJournal\":false,\"hasQc\":true,\"allowDirectSubmit\":false,\"externalIdentity\":\"scirep\",\"sideBox\":\"Learn more about [Scientific Reports](http://www.nature.com/srep/)\",\"snPcode\":\"\",\"submissionUrl\":\"\",\"title\":\"Scientific Reports\",\"twitterHandle\":\"\",\"acdcEnabled\":true,\"dfaEnabled\":true,\"editorialSystem\":\"stoa\",\"reportingPortfolio\":\"Scientific Reports\",\"inReviewEnabled\":true,\"inReviewRevisionsEnabled\":true}}],\"origin\":\"\",\"ownerIdentity\":\"2562ef51-ba82-455b-819b-bae61af09af1\",\"owner\":[],\"postedDate\":\"January 3rd, 2024\",\"published\":true,\"recentEditorialEvents\":[],\"rejectedJournal\":[],\"revision\":\"\",\"amendment\":\"\",\"status\":\"under-review\",\"subjectAreas\":[{\"id\":27833576,\"name\":\"Biological sciences/Genetics\"},{\"id\":27833577,\"name\":\"Biological sciences/Molecular biology/Chromosomes\"}],\"tags\":[],\"updatedAt\":\"2024-07-08T09:06:14+00:00\",\"versionOfRecord\":[],\"versionCreatedAt\":\"2024-01-03 02:02:24\",\"video\":\"\",\"vorDoi\":\"\",\"vorDoiUrl\":\"\",\"workflowStages\":[]},\"version\":\"v1\",\"identity\":\"rs-3810641\",\"journalConfig\":\"researchsquare\"},\"__N_SSP\":true},\"page\":\"/article/[identity]/[[...version]]\",\"query\":{\"redirect\":\"/article/rs-3810641\",\"identity\":\"rs-3810641\",\"version\":[\"v1\"]},\"buildId\":\"CiT4i_kKBbxQbnFL0ufpk\",\"isFallback\":false,\"isExperimentalCompile\":false,\"dynamicIds\":[84888],\"gssp\":true,\"scriptLoader\":[]}","source_license":"CC-BY-4.0","license_restricted":false}