A Large-scale Karyotype Analysis of Genetic Counselors and Fetuses Among Hakka Population in Southern China

A Large-scale Karyotype Analysis of Genetic Counselors and Fetuses Among Hakka Population in Southern China | 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 Help Center Sign In Submit a Preprint Cite Share Download PDF Research A Large-scale Karyotype Analysis of Genetic Counselors and Fetuses Among Hakka Population in Southern China Hua Zhong, Qingyan Huang, Zhikang Yu, Heming Wu This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-148251/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Background: Karyotype analysis has been used in a clinical cytogenetic laboratory. A retrospective analysis of karyotype analysis in Meizhou area to provide valuable reference for clinical genetic counseling. A retrospective analysis of 5-year data of karyotype analysis from 5,289 peripheral blood samples and 2,882 fetuses between January 2015 and March 2020 in Meizhou area. Results: Chromosomal abnormalities were detected in a total of 392 peripheral blood samples, and the abnormality detection rate (ADR) was 7.41% (392/5,289). The ADR for sex chromosome aneuploidies, autosomal aneuploidies, structural abnormalities and chromosome polymorphisms were 1.29% (68/5,289), 0.72% (38/5,289), 1.55% (82/5,289) and 3.86% (204/5,289). Among cases with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 27.04% (106/392), 20.92% (82/392) and 52.04% (204/392), respectively. There were statistically significant differences in the chromosomal abnormalities rate different types of patients. In addition, chromosomal abnormalities were detected in a total of 307 fetus samples, and the ADR was 10.65% (307/2,882). The ADR for sex chromosome aneuploidies, autosomal aneuploidies, triploid/tetraploid, structural abnormalities and chromosome polymorphisms were 1.70% (49/2,882), 5.45% (157/2,882), 0.14% (4/2,882), 1.39% (40/2,882) and 1.94% (56/2,882). Among fetuses with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 68.40% (210/307), 13.03% (40/307) and 18.24% (56/307), respectively. The chromosomal abnormalities rate was higher than that in non-elderly pregnant women. Abnormal chromosome karyotype detection rate is higher in genetic counselors in Meizhou area. Conclusions: Karyotype analysis has great significance for clinical diagnosis, guide the healthy birth, and improve the quality of the population. Molecular Genetics chromosome karyotype genetic counselors pediatrics prenatal diagnosis Meizhou Figures Figure 1 Background Human cytogenetics was born in 1956 with the fundamental, but great significance, discovery that normal human cells contain 46 chromosomes[ 1 , 2 ]. Cytogenetics is mainly from the perspective of cytology, especially from the structure and function of chromosomes, the relationship between chromosomes and other organelles to study the genetic phenomenon and clarify the mechanism of inheritance and variation[ 3 ]. Chromosome is the carrier of genetic material, chromosome abnormality leads to the dose effect and location effect of genetic material. Chromosomal numerical abnormality and structural abnormality can lead to the occurrence of chromosome diseases, which cannot be cured at present. It has a long-term impact on the growth and development of individuals and their fertility, including congenital malformation, growth retardation, mental retardation, abnormal development of reproductive system and low fertility. Infertility is the inability to conceive without using any contraception and having a normal sex life. There are studies shown that the prevalence of infertility was 20–25% among couples of reproductive age in China[ 4 , 5 ]. More and more researches shown that genetic material variation, including chromosomal abnormalities, as an important cause of infertility[ 6 – 8 ]. Adverse pregnancy is a common pregnancy pathological phenomenon, mainly including recurrent abortion, stillbirth, birth of mentally retarded and deformed children, and so on. Among them, embryo arrest and recurrent abortion are the main clinical manifestations[ 9 , 10 ]. There are many causes of adverse pregnancy, including abnormal uterine structure, reproductive tract infection, abnormal endocrine metabolism, maternal systemic diseases, immune factors, environmental factors and chromosome abnormalities, among which chromosome abnormalities are one of the important causes[ 11 ]. Mental retardation (MR) is a common disease in the children's genetic counseling, is mainly due to cognitive skills and adapt ability of defects caused by damages of central nervous system, its prevalence in the population was 1 ~ 3%[ 12 ]. In addition, chromosomal abnormalities can be detected in the patients with growth retardation[ 13 , 14 ]. The detection of abnormal chromosomes has important guiding significance for the treatment of children in genetic counseling, eugenics of adults with childbearing age. This report, a retrospective analysis of 5-year data of chromosome karyotypes of genetic counselors, pediatrics and prenatal diagnosis in Meizhou area, has revealed the difference chromosome abnormalities spectrum of different populations. The results of this study provide valuable reference for clinical genetic counseling. Results Population characteristics A total of 5289 patients (4871 adults (> 14 years) and 418 children (≤ 14 years)) performed karyotype analysis were recruited in the study, and the age ranges from 1 day to 67 years old. In addition, karyotype analysis was performed on 2882 fetuses, including 382 villi samples, 2372 amniotic fluid samples and 128 umbilical cord blood samples. Chromosomal abnormalities of peripheral blood samples Chromosomal abnormalities were detected in a total of 392 peripheral blood samples, and the abnormality detection rate (ADR) was 7.41% (392/5,289), which 6.73% (328/4,871) in adults and 15.31% (64/418) in children. The ADR for sex chromosome aneuploidies, autosomal aneuploidies, structural abnormalities and chromosome polymorphisms were 1.29% (68/5,289), 0.72% (38/5,289), 1.55% (82/5,289) and 3.86% (204/5,289) for all peripheral blood samples, which 1.21% (59/5,289), 0.12% (6/5,289), 1.50% (73/5,289), 3.90% (190/5,289) for adults and 2.15% (9/418), 7.65% (32/418), 2.15% (9/418), 3.35% (14/418) for children. The ADR of chromosome numerical abnormalities in children cases was significantly higher than those in adults (10.05% vs. 1.33%, P < 0.05) (Table 1 ). Table 1 Chromosomal abnormalities detected in adults and children. Chromosomal abnormalities Adults (n=4871) Children (n=418) Total (n=5289) No. Abn Cases ADR (%) RF (%) No. Abn Cases ADR (%) RF (%) No. Abn Cases ADR (%) RF (%) Numerical abnormality Sex Chromosome Aneuploidy Males 47,XXY 46 0.94 14.07 1 0.24 1.56 47 0.89 11.99 45,X[22]/46,X,Yqh-[28] 1 0.02 0.30 0 0.00 0.00 1 0.02 0.26 45,XO[37]/46,XY[13] 1 0.02 0.30 0 0.00 0.00 1 0.02 0.26 46,XY[36]/47,XXY[64] 1 0.02 0.30 0 0.00 0.00 1 0.02 0.26 47,XYY 0 0.00 0.00 0 0.00 0.00 0 0.00 0.00 48,XXYY 0 0.00 0.00 1 0.24 1.56 1 0.02 0.26 48,XXXY 0 0.00 0.00 0 0.00 0.00 0 0.00 0.00 Females 45,XO 6 0.14 1.83 6 1.44 9.38 12 0.23 3.06 47,XXX 2 0.04 0.61 0 0.00 0.00 2 0.04 0.51 45,X[10]/46,XX[40] 1 0.02 0.30 0 0.00 0.00 1 0.02 0.26 46,XX[45]/47,XXX[5] 1 0.02 0.30 0 0.00 0.00 1 0.02 0.26 45,X[62]/46,X,der(X)(p11.2)[38] 0 0.00 0.00 1 0.24 1.56 1 0.02 0.26 Subtotal 59 1.21 17.99 9 2.15 14.06 68 1.29 17.35 Autosomal Aneuploidy Trisomy 21 6 0.12 1.83 32 7.65 50.00 38 0.72 9.69 Trisomy 18 0 0.00 0.00 0 0.00 0.00 0 0.00 0.00 Trisomy 13 0 0.00 0.00 0 0.00 0.00 0 0.00 0.00 Subtotal 6 0.12 1.83 32 7.65 50.00 38 0.72 9.69 Total 65 1.33 19.82 41 9.81 64.06 106 2.00 27.04 Structural abnormality 73 1.50 22.26 9 2.15 14.06 82 1.55 20.92 Chromosome polymorphism 190 3.90 57.93 14 3.35 21.88 204 3.86 52.04 All chromosomal abnormalities 328 6.73 100.00 64 15.31 100.00 392 7.41 100.00 ADR, abnormality detection rate (%); RF, relative frequency by (%); *Statistically different from ADR in prenatal setting ( P < 0.05). Among cases with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 27.04% (106/392), 20.92% (82/392) and 52.04% (204/392), respectively. The most frequently seen numerical chromosomal abnormalities by relative frequency (RF) were 47,XXY, trisomy 21, and 45,XO at 11.99%, 9.69%, and 3.06%. In adults, the most frequently seen numerical chromosomal abnormalities by RF were 47,XXY, trisomy 21, and 45,XO at 14.07%, 1.83%, and 1.83%. In children, the most frequently seen numerical chromosomal abnormalities by RF were trisomy 21, and 45,XO at 50.0%, and 9.38% (Table 1 ). The most common structural chromosomal abnormalities were 46,XN,dup(1)(q11q12) (n = 11; RF = 13.41%), followed by 46,X,inv(Y)(p11.2q11.23) (n = 10; RF = 12.20%), and 45,XY,der(13;14)(q10;q10) (n = 5; RF = 6.10%) (Table S1). The most common chromosome polymorphisms were 46,XN,inv(9)(p13q13) (n = 65; RF = 31.86%), followed by 46,X,Yqh+ (n = 36; RF = 17.65%), and 46,X,Y(Y < G) (n = 21; RF = 10.29%) (Table S1). Main clinical manifestations and chromosomal abnormalities Based on the clinical information of the patients, we divided them into infertile group (n = 1994), adverse pregnancy and parturition history group (n = 1520), growth and developmental abnormalities group (n = 322), congenital diseases and mental retardation group (n = 113) and other (n = 1340). There were statistically significant differences in the chromosomal abnormalities rate in infertile group (χ 2 = 47.621, P < 0.001) and adverse pregnancy and parturition history group (χ 2 = 47.353, P < 0.001), growth and developmental abnormalities group (χ 2 = 10.740, P = 0.014), congenital diseases and mental retardation group (χ 2 = 242.107, P < 0.001). The main types of chromosomal abnormalities were chromosome polymorphism (n = 79; ADR = 3.96%) and sex chromosome aneuploidy (n = 40; ADR = 2.01%) in infertile group, which chromosome polymorphism (n = 68; ADR = 4.47%) and structural abnormality (n = 36; ADR = 2.37%) in adverse pregnancy and parturition history group, chromosome polymorphism (n = 12; ADR = 3.73%) and sex chromosome aneuploidy (n = 12; ADR = 3.73%) in growth and developmental abnormalities group, and autosomal aneuploidy (n = 33; ADR = 29.20%) in congenital diseases and mental retardation group (Table 2 ). Table 2 Main clinical manifestations and chromosomal abnormalities. Group Numerical abnormality Structural abnormality Chromosome polymorphism Total (n, %) P value Autosomal Aneuploidy Sex Chromosome Aneuploidy Infertile (n = 1994) 0(0) 40(2.01) 16(0.80) 79(3.96) 135(6.77) < 0.001(χ 2 = 47.621) Abnormal gestation and birth (n = 1520) 0(0) 3(0.20) 36(2.37) 68(4.47) 107(7.04) < 0.001(χ 2 = 47.353) Growth and developmental abnormalities (n = 322) 2(0.62) 12(3.73) 5(1.55) 12(3.73) 31(9.63) 0.014 (χ 2 = 10.740) Congenital diseases and mental retardation (n = 113) 33(29.20) 3(2.65) 4(3.54) 4(3.54) 44(38.94) < 0.001(χ 2 = 242.107) Other (n = 1340) 3(0.22) 10(0.75) 21(1.57) 41(3.06) 75(5.60) 0.098(χ 2 = 6.309) Chromosomal abnormalities of fetuses Chromosomal abnormalities were detected in a total of 307 fetus samples, and the ADR was 10.65% (307/2,882), which 12.30% (47/382) in chorionic villus samples, 10.71% (254/2,372) in amniocentesis samples and 4.69% (6/128) in cord blood samples. The ADR for sex chromosome aneuploidies, autosomal aneuploidies, triploid/tetraploid, structural abnormalities and chromosome polymorphisms were 1.70% (49/2,882), 5.45% (157/2,882), 0.14% (4/2,882), 1.39% (40/2,882) and 1.94% (56/2,882), which 3.14% (12/382), 6.81% (26/382), 0.26% (1/382), 0.52% (2/382), 1.57% (6/382) for chorionic villus samples, 1.52% (36/2,372), 5.40% (128/2,372), 0.13% (3/2,372), 1.56% (37/2,372), 2.07% (49/2,372) for amniocentesis samples and 0.78% (1/128), 2.34% (3/128), 0.78% (1/128), 0.78% (1/128) for cord blood samples. Among fetuses with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 68.40% (210/307), 13.03% (40/307) and 18.24% (56/307), respectively. The most frequently seen numerical chromosomal abnormalities by RF were trisomy 21, trisomy 18, 45,XO, and 47,XXY at 36.16%, 11.07%, 5.86%, and 4.89%. The most frequently seen numerical chromosomal abnormalities were trisomy 21, trisomy 18, and 45,XO at 25.53%, 19.15%, and 19.15% in chorionic villus samples, which trisomy 21, trisomy 18, and 47,XXY at 38.19%, 9.45%, and 5.51% in amniocentesis samples (Table 3 ). Table 3 Chromosomal abnormalities detected in prenatal diagnosis. Chromosomal abnormalities Chorionic villus samples (CVS) (n=382) Amniocentesis (AC) (n=2372) Cord blood (CB) (n=128) Total (n=2882) No. Abn Cases ADR (%) RF (%) No. Abn Cases ADR (%) RF (%) No. Abn Cases ADR (%) RF (%) No. Abn Cases ADR (%) RF (%) Numerical abnormality Sex Chromosome Aneuploidy 45,XO 9 2.36 19.15 8 0.34 3.15 1 0.78 16.67 18 0.62 5.86 45,X[26]/46,XY[4] 0 0.00 0.00 1 0.04 0.39 0 0.00 0.00 1 0.03 0.33 47,XXX 1 0.26 2.13 5 0.21 1.97 0 0.00 0.00 6 0.21 1.95 47,XXY 1 0.26 2.13 14 0.59 5.51 0 0.00 0.00 15 0.52 4.89 47,XXY[13]/46,XX[87] 1 0.26 2.13 0 0.00 0.00 0 0.00 0.00 1 0.03 0.33 47,XXY[16]/46,XY[34] 0 0.00 0.00 1 0.04 0.39 0 0.00 0.00 1 0.03 0.33 47,XYY 0 0.00 0.00 5 0.21 1.97 0 0.00 0.00 5 0.17 1.63 48,XXXY 0 0.00 0.00 1 0.04 0.39 0 0.00 0.00 1 0.03 0.33 48,XXYY 0 0.00 0.00 1 0.04 0.39 0 0.00 0.00 1 0.03 0.33 Subtotal 12 3.14 25.53 36 1.52 14.17 1 0.78 16.67 49 1.70 15.96 Autosomal Aneuploidy Trisomy 21 12 3.14 25.53 97 4.09 38.19 2 1.56 33.33 111 3.85 36.16 Trisomy 18 9 2.36 19.15 24 1.01 9.45 1 0.78 16.67 34 1.18 11.07 Trisomy 13 2 0.52 4.26 6 0.25 2.36 0 0.00 0.00 8 0.28 2.61 Other aneuploidy 3 0.79 6.38 1 0.04 0.39 0 0.00 0.00 4 0.14 1.30 Subtotal 26 6.81 55.32 128 5.40 50.39 3 2.34 50.00 157 5.45 51.14 Triploid & tetraploid 1 0.26 2.13 3 0.13 1.18 0 0.00 0.00 4 0.14 1.30 Total 39 10.21 82.98 167 7.04 65.75 4 3.13 66.67 210 7.29 68.40 Structural abnormality 2 0.52 4.26 37 1.56 14.57 1 0.78 16.67 40 1.39 13.03 Chromosome polymorphism 6 1.57 12.77 49 2.07 19.29 1 0.78 16.67 56 1.94 18.24 mos46,XX[28]/46,XY[22] 0 0.00 0.00 1 0.04 0.39 0 0.00 0.00 1 0.03 0.33 All chromosomal abnormalities 47 12.30 100.00 254 10.71 100.00 6 4.69 100.00 307 10.65 100.00 ADR, abnormality detection rate (%); RF, relative frequency by (%); *Statistically different from ADR in prenatal setting ( P < 0.05) The most common structural chromosomal abnormalities were 46,X,inv(Y)(p11.2q11.23) (n = 4; RF = 10.0%), followed by 46,XN,dup(1)(q11q12) (n = 3; RF = 7.5%), and 46,XN,dup(1)(q11q21) (n = 2; RF = 5.0%) (Table S2). The most common chromosome polymorphisms were 46,XN,inv(9)(p13q13) (n = 28; RF = 50.0%), followed by 46,XN,inv(9)(p11q13) (n = 2; RF = 3.57%), and 46,XN,inv(9)(p13q13) (n = 2; RF = 3.57%) (Table S2). The relationship of maternal age, gestational age and chromosomal abnormalities Based on the age of the pregnant women, the cases included in this study were divided into less than 35 years old group and greater than or equal to 35 years old group. There were statistically significant differences in the chromosomal abnormalities rate between this two groups (χ 2 = 51.041, P < 0.001). The main types of chromosomal abnormalities were autosomal aneuploidy (n = 88; ADR = 3.89%) and chromosome polymorphism (n = 49; ADR = 2.16%) in less than 35 years old group, which autosomal aneuploidy (n = 69; ADR = 11.18%) and sex chromosome aneuploidy (n = 16; ADR = 2.59%) in greater than or equal to 35 years old group. Grouped according to gestational age, there were no significant differences in the chromosomal abnormalities rate in 28 weeks group (Table 4 ). Table 4 Comparison of karyotype abnormalities at different maternal ages and gestational weeks. Group Numerical abnormality Structural abnormality Chromosome polymorphism Total (n, %) P value Autosomal Aneuploidy Sex Chromosome Aneuploidy Triploid & tetraploid Maternal age < 35 years (n = 2264) 88(3.89) 33(1.46) 4(0.18) 29(1.28) 49(2.16) 203(8.97) < 0.001(χ 2 = 51.041) ≥ 35 years (n = 617) 69(11.18) 16(2.59) 0(0) 11(1.78) 7(1.13) 103(16.69) Gestational age 28 weeks (n = 151) 1(0.66) 2(1.32) 0(0) 2(1.32) 3(1.99) 8(5.30) 0.069(χ 2 = 9.645) Discussion Chromosomal karyotype abnormality is one of the important causes of infertility, mental retardation, adverse pregnancy, asthenia and unexplained recurrent abortion, and karyotype analysis is an important detection method for chromosomal genetic diseases. The chromosome karyotype analysis of peripheral blood lymphocytes can provide scientific basis for the diagnosis and treatment of clinical chromosome diseases[ 15 ]. The most common reasons of genetic counseling patients are infertility, adverse pregnancy and parturition history, growth and developmental abnormalities and congenital diseases and mental retardation. The onset of these is mainly related to genetic, environmental, immune, among which chromosome abnormalities are one of the important causes of adverse pregnancy history. The results of this study showed that the chromosome karyotype abnormality rate of genetic counseling patients in Meizhou was 7.41%. That was lower than the 10.65% reported in previous study in Guangdong province[ 16 ], 9.89% in Shenzhen[ 17 ], 8.97% in Zaozhuang area[ 18 ], higher than the 6.65% reported in Wuhan in Hubei province[ 19 ], 5.12% in Lianyungang area[ 20 ], 4.39% in Yangzhou area[ 21 ]. Infertile men and women have a significantly increased risk of carrying chromosomal abnormalities. The results of this study showed that the chromosome karyotype abnormality rate of infertile male and female was 6.77% and the main types of chromosomal abnormalities were chromosome polymorphism and sex chromosome aneuploidy in these patients. Our results are consistent with some studies[ 22 ]. The rate of chromosomal anomaly in male infertile patients was 4.15% reported by M. Gao et al from Shenyang Women's and Children's Hospital[ 23 ]. The rate of chromosomal anomaly in the 14965 infertile couples was 3.84%, which 6.84% in the men and in 0.84% the women in Central China reported by Yan Liu et al [ 24 ]. The prevalence of chromosomal abnormalities was 10.55% among patients receiving genetic counseling in Jilin Province of China[ 25 ]. The chromosome abnormality rate in Chinese population is 0.5%-1.0%, while the chromosome abnormality rate in patients with adverse pregnancy and parturition history is 2%-10%[ 26 ]. The results of this study showed that chromosome abnormality rate in patients with adverse pregnancy and parturition history was 7.04%, which chromosome polymorphism was 4.47% and structural abnormality was 2.37%. It is consistent with those reported in other studies. The main types of chromosomal structure variation are balanced translocation of chromosome, Robertson translocation and inversion. Study has found that karyotype analysis of 1657 patients with abnormal reproductive history in Shenzhen showed that chromosome abnormality rate was 3.26% and polymorphism rate was 3.80%[ 27 ]. Mental retardation (MR) is a common disease in genetics counseling children, mainly due to central nerve damage caused by the cognitive ability of defects, such as in the crowd prevalence was 1%-3%[ 28 ]. Chromosomal abnormalities can be detected in 10% of patients with delayed growth or mental retardation[ 29 ]. Trisomy 21 is the most common type of chromosome abnormality in children genetic counseling. The Down syndrome critical region (DSCR) is located in 21q22, with a fragment size of about 5.4 Mb[ 30 ]. The duplication of this region can lead to a typical clinical phenotype of Down syndrome in an individual. These clinical manifestations include special facial features, short stature, muscle hypotonia, atlantoaxial instability, reduced neuronal density, cerebellar hypoplasia, intellectual disability and congenital heart defects[ 30 , 31 ]. In this study, the number of children with trisomy 21 syndrome accounted for 50% (32/64) of the total number of abnormal karyotypes, followed by chromosome polymorphism 21.88% (14/64). Studies have shown that 17%-41% of children with mental retardation and developmental delay are caused by genetic factors, such as chromosome abnormality, single-gene disease and other genetic abnormalities[ 32 ]. If karyotype analysis is not easy to detect chromosomal abnormalities, 5%-20% of patients can be diagnosed with minor abnormalities by further fluorescence in situ hybridization, MLPA, and comparative genomic hybridization[ 33 ]. Studies have shown that 1q21.1, 15q13.3 and 16p11.2 are chromosome recombination hotspots for mental retardation, autism, epilepsy, schizophrenia and other diseases[ 34 ]. Therefore, the application of different testing techniques can provide stronger diagnostic evidence for genetic counseling and prenatal diagnosis. Chromosome polymorphism mainly occurs in the structural heterochromatin region, including heterochromatin region and satellite. Generally, it has no obvious phenotypic effect or pathological significance, and whether it causes clinical effect has been controversial[ 35 ]. In this study, there were 204 cases of chromosome polymorphism, with a detection rate of 3.86%, including qh+, pstk+, ps+, cenh+, inv(9), inv(Y), Y < G. In this study, among the 2882 fetus samples, 307 cases of chromosomal abnormal karyotypes were detected, with an abnormal rate of 10.65%. Among the abnormal karyotypes, 210 fetus samples with numerical abnormality. And the trisomy syndrome was detected in 153 cases, accounting for 72.86% (153/210), which was the most common abnormal type. Advanced age is a high risk factor for chromosomal abnormalities, especially for aneuploidy. In this study, there were 617 pregnant women with advanced age (≥ 35 years), accounting for 21.41%. And the chromosomal abnormalities rate was higher than that in non-elderly pregnant women. In recent years, based on high-throughput sequencing technology to analyze fetal free DNA in maternal plasma, the noninvasive prenatal testing (NIPT) technology to detect fetal chromosome aneuploidy has been widely accepted by pregnant women due to its high sensitivity and specificity and no risk of miscarriage. NIPT mainly detects trisomy 21, 18 and 13, with an accuracy rate of more than 99%[ 36 ]. Its limitation is that the screening only detect numerical abnormalities, and cannot detect structural abnormalities such as chromosome deletion, duplication, translocation and inversion. Conclusions In conclusion, abnormal chromosome karyotype detection rate is higher in genetic counselors in Meizhou area. Abnormal chromosome karyotype can cause infertility, abnormal gestation and birth, growth and developmental abnormalities, congenital diseases and mental retardation, and other diseases. Therefore, karyotype analysis has great significance for clinical diagnosis, guide the healthy birth, and improve the quality of the population. Methods Patients This retrospective clinical study included 5,289 adults and children cases, 2,882 fetuses performed chromosome karyotype in Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University between January 2015 and March 2020. This study was conducted on the basis of the Declaration of Helsinki and was supported by the Ethics Committee of the Meizhou People's Hospital . Karyotyping Karyotyping was performed on G-band metaphases prepared from cultured cells of specimens obtained from peripheral blood (PB), chorionic villus sampling (CVS), amniocentesis (AC) and cord blood (CB), and following the laboratory’s standardized procedures. The detected chromosomes were named according to the International System for Human Cytogenetic Nomenclature (ISCN). Categorization of the chromosomal abnormalities There are two main types of chromosomal abnormalities: (1) numerical abnormalities, including sex chromosome aneuploidies (47,XXY, 47,XYY, other X or Y aneuploidies for males and 45,X, 47,XXX, other X aneuploidies for females), autosomal aneuploidies (trisomy 21, trisomy 18, trisomy 13, and other autosomal aneuploidies), triploidy and tetraploidy; (2) structural abnormalities, including balanced rearrangements (reciprocal translocations, Robertsonian translocations, inversions, etc.) and unbalanced structural rearrangements (deletions, duplications, etc.). The workflow of genetic counselors and prenatal diagnosis cases processing with detected chromosomal abnormalities and their categories is depicted in Figure 1. Statistical analysis SPSS statistical software version 21.0 was used for data analysis. Values are expressed as n (%). Fisher's exact tests were used to compare the positive ratios between groups. A value of P <0.05 was considered as statistically significant. Declarations Ethics approval and consent to participate The study was approved by the Ethics Committee of Medicine, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University. Consent for publication Not applicable. Availability of data and materials The data used to support the findings of this study are available from the corresponding author upon request. Competing interests The authors declare that they have no competing interests. Funding This study was supported by the Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translation Research of Hakka Population (Grant No.: 2018B030322003). Authors' contributions Heming Wu designed the study. Hua Zhong performed the experiments. Heming Wu and Hua Zhong collected clinical data. Hua Zhong, Zhikang Yu and Qingyan Huang analyzed the data. Heming Wu prepared the manuscript. All authors were responsible for critical revisions, and all authors read and approved the final version of this work. Acknowledgments The author would like to thank other colleagues whom were not listed in the authorship of Center for Precision Medicine, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University for their helpful comments on the manuscript. References Tjio JH. The chromosome number of man. Am J Obstet Gynecol. 1978; 130(6):723-4. Hecht F. Human and mammalian cytogenetics. An historical perspective. Am J Hum Genet. 1980;32(5):768. Trask BJ. Human cytogenetics: 46 chromosomes, 46 years and counting. Nat Rev Genet. 2002; 3(10):769-78. Meng Q, Ren A, Zhang L, Liu J, Li Z, Yang Y, et al. Incidence of infertility and risk factors of impaired fecundity among newly married couples in a Chinese population. Reprod Biomed Online. 2015, 30(1):92-100. Zhou Z, Zheng D, Wu H, Li R, Xu S, Kang Y, et al. 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Obstet Gynecol. 2018, 131(3):457-63. Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res Dev Disabil. 2011; 32(2):419-36. Robles Valdés C, del Castillo Ruiz V, Oyoqui J, Altamirano Bustamante N, de la Luz Ruiz Reyes M, Calzada León R. Growth, growth velocity and adult height in Mexican girls with Turner's syndrome. J Pediatr Endocrinol Metab. 2003; 16(8):1165-73. Ehara H, Ohno K, Takeshita K. Growth and developmental patterns in Prader-Willi syndrome. J Intellect Disabil Res. 1993; 37 ( Pt 5):479-85. Yao R, Zhang C, Yu T, Li N, Hu X, Wang X, et al. Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data. Mol Cytogenet. 2017; 10:30. Zhang JQ, Liang JF, Chen YJ, Hui SU, Zhao-Hui HU, Zhu QY. Karyotype analysis of 2234 cases heredity consultants from Guangdong province. Chin J Birth Health Hered. 2006; 4:51-2. Dan G, Dian-lang L, Xiao-ge L, Jin-ting Z. Chromosome karyotype abnormality rate and type analysis of 1506 patients with genetic counseling in baoan district. Chin J Birth Health Hered. 2019; 11:3. Sun SJ, Gan XH. Analysis of chromosomal karyotypes in 1950 cases of genetic counseling in Zaozhuang. Chin J Birth Health Hered. 2013; 3:57-8. Xingfei Wu, Yin Wang, Xinwei Shi, Lan Zhao, Hongju Tang, Jianlin Ding, et al. Peripheral blood chromosome karyotype analysis in 2121 cases of genetic counseling. Chin J Birth Health Hered. 2013; 9:44-45. Yong-an W, Juan T, Lei-lei W, Ting Y, Rong Z, An-shun Z, et al. Enetic analysis of 4079 genetic counselors in Lianyungang area. Chin J Birth Health Hered. 2018; 9:23-25. Yue-xin X, Su-hua Z, Dan F, Yun J. Peripheral blood chromosome karyotype of genetic counselee:an analysis of 5631 cases in Yangzhou area. Chin J Birth Health Hered. 2017; 1:67-69. Mau-Holzmann UA. Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res. 2005; 111(3-4):317-36. Gao M, Pang H, Zhao YH, Hua J, Tong D, Zhao H, et al. Karyotype analysis in large sample cases from Shenyang Women's and Children's hospital: a study of 16,294 male infertility patients. Andrologia. 2017; 49(4). Liu Y, Kong XD, Wu QH, Li G, Song L, Sun YP. Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples. J Assist Reprod Genet. 2013; 30(4):547-53. Zhang M, Fan HT, Zhang QS, Wang XY, Yang X, Tian WJ, et al. Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China. Genet Mol Res. 2015; 14(4):16178-84. Codina-Pascual M, Navarro J, Oliver-Bonet M, Kraus J, Speicher MR, Arango O, et al. Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes. Hum Reprod. 2006; 21(6):1490-7. Dan S, Qian WP, Xiao-Qing XU. Chromosome Analysis for 1657 cases with abnormal reproduction history from ShenZhen area. Hebei Med. 2003; 9:986-8. Stevenson RE, Holden KR, Rogers RC, Schwartz CE. Seizures and X-linked intellectual disability. Eur J Med Genet. 2012; 55(5):307-12. Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. N Engl J Med 2012; 366(23): 2231-2. Lana-Elola E, Watson-Scales SD, Fisher EM, Tybulewicz VL. Down syndrome: searching for the genetic culprits. Dis Model Mech. 2011; 4(5):586-95. Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, et al. Down syndrome. Nat Rev Dis Primers. 2020; 6(1):9. Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, et al. High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Eur J Hum Genet. 2010; 18(2):178-85. Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, et al. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics. 2011; 4:25. Mefford HC, Eichler EE. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev. 2009; 19(3):196-204. Halbrecht I, Shabtay F. Human chromosome polymorphism and congenital malformations. Clin Genet. 1976; 10((2NA-NA-760903-760909)):113-22. Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015; 45(5):530-8. Supplementary Files TableS1.docx Table S1. Chromosomal abnormalities detected of different counties in Meizhou area. TableS2.docx Table S2 Chromosomal abnormalities detected in prenatal diagnosis. Cite Share Download PDF Status: Posted Version 1 posted 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. 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Also discoverable on Platform About 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-148251","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Research","associatedPublications":[],"authors":[{"id":8494962,"identity":"9caf6fef-4d5b-42f2-8102-83ee159a0e8d","order_by":0,"name":"Hua Zhong","email":"","orcid":"","institution":"Meizhou People's Hospital","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Hua","middleName":"","lastName":"Zhong","suffix":""},{"id":8494963,"identity":"eaaa0414-6268-4384-8c49-d8793ba7cd12","order_by":1,"name":"Qingyan Huang","email":"","orcid":"","institution":"Meizhou People's Hospital","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Qingyan","middleName":"","lastName":"Huang","suffix":""},{"id":8494964,"identity":"f1fab897-6301-48ae-a3c2-1c1e62fcb021","order_by":2,"name":"Zhikang Yu","email":"","orcid":"","institution":"Meizhou People's Hospital","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Zhikang","middleName":"","lastName":"Yu","suffix":""},{"id":8494965,"identity":"ee0f5c1a-7081-484c-a882-13382d4366b3","order_by":3,"name":"Heming Wu","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA4ElEQVRIiWNgGAWjYFACHiA2YGBgY28++OCDgY0c8Vr4eI4lG84oSDMmUgsQyEnkmAnzfDicSFCDwY3cg49uFNyxa5NIS2O2MWBOYGA/fHQDfi15ycY5Bs+S23geH3ucY8CWx8CTlnYDnxazGzlm0jkGh5PZ2NPSgXp5ihkkeMwIaTH/DdbCANRrYSCR2ECEFjNmoBY7Ng6gFgYDA8Ja7M+8MQY5LIENFMg9BgnGbIT8ItmeY/g5589he/l2YFT++PNfjp/98DG8WmAgsQHGYiNGOdiBxCocBaNgFIyCEQgAq4lJ1IdpneoAAAAASUVORK5CYII=","orcid":"https://orcid.org/0000-0002-1876-9585","institution":"Meizhou People's Hospital","correspondingAuthor":true,"submittingAuthor":false,"prefix":"","firstName":"Heming","middleName":"","lastName":"Wu","suffix":""}],"badges":[],"createdAt":"2021-01-15 10:27:35","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-148251/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-148251/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":5134616,"identity":"04967498-c574-4046-bff0-e1f032dc62ce","added_by":"auto","created_at":"2021-01-20 20:12:42","extension":"jpg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":556907,"visible":true,"origin":"","legend":"Flow-diagram for detection and categorization of chromosomal abnormalities in these cases.","description":"","filename":"Figure1.jpg","url":"https://assets-eu.researchsquare.com/files/rs-148251/v1/08577fb107f6b2fdc9372481.jpg"},{"id":13650198,"identity":"341567a7-d37a-4b37-a8a7-9250587d1df9","added_by":"auto","created_at":"2021-09-17 09:40:09","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":736938,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-148251/v1/60767162-103a-42f3-8915-b421f00d77b1.pdf"},{"id":5134483,"identity":"b4b7bf0d-9421-4064-8ad4-35e7606564d4","added_by":"auto","created_at":"2021-01-20 20:09:42","extension":"docx","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":23126,"visible":true,"origin":"","legend":"Table S1. Chromosomal abnormalities detected of different counties in Meizhou area.","description":"","filename":"TableS1.docx","url":"https://assets-eu.researchsquare.com/files/rs-148251/v1/23e07bb8819dcb7e22a1ca8f.docx"},{"id":5134481,"identity":"4bf35df5-0a68-4939-9949-81245d1c60af","added_by":"auto","created_at":"2021-01-20 20:09:42","extension":"docx","order_by":2,"title":"","display":"","copyAsset":false,"role":"supplement","size":15939,"visible":true,"origin":"","legend":"Table S2 Chromosomal abnormalities detected in prenatal diagnosis.","description":"","filename":"TableS2.docx","url":"https://assets-eu.researchsquare.com/files/rs-148251/v1/2171effc33efaa6b68f5b7ad.docx"}],"financialInterests":"","formattedTitle":"\u003cp\u003eA Large-scale Karyotype Analysis of Genetic Counselors and Fetuses Among Hakka Population in Southern China\u003c/p\u003e","fulltext":[{"header":"Background","content":" \u003cp\u003eHuman cytogenetics was born in 1956 with the fundamental, but great significance, discovery that normal human cells contain 46 chromosomes[\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]. Cytogenetics is mainly from the perspective of cytology, especially from the structure and function of chromosomes, the relationship between chromosomes and other organelles to study the genetic phenomenon and clarify the mechanism of inheritance and variation[\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]. Chromosome is the carrier of genetic material, chromosome abnormality leads to the dose effect and location effect of genetic material. Chromosomal numerical abnormality and structural abnormality can lead to the occurrence of chromosome diseases, which cannot be cured at present. It has a long-term impact on the growth and development of individuals and their fertility, including congenital malformation, growth retardation, mental retardation, abnormal development of reproductive system and low fertility.\u003c/p\u003e \u003cp\u003eInfertility is the inability to conceive without using any contraception and having a normal sex life. There are studies shown that the prevalence of infertility was 20\u0026ndash;25% among couples of reproductive age in China[\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e, \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e]. More and more researches shown that genetic material variation, including chromosomal abnormalities, as an important cause of infertility[\u003cspan additionalcitationids=\"CR7\" citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]. Adverse pregnancy is a common pregnancy pathological phenomenon, mainly including recurrent abortion, stillbirth, birth of mentally retarded and deformed children, and so on. Among them, embryo arrest and recurrent abortion are the main clinical manifestations[\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e, \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e]. There are many causes of adverse pregnancy, including abnormal uterine structure, reproductive tract infection, abnormal endocrine metabolism, maternal systemic diseases, immune factors, environmental factors and chromosome abnormalities, among which chromosome abnormalities are one of the important causes[\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e]. Mental retardation (MR) is a common disease in the children's genetic counseling, is mainly due to cognitive skills and adapt ability of defects caused by damages of central nervous system, its prevalence in the population was 1\u0026thinsp;~\u0026thinsp;3%[\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e]. In addition, chromosomal abnormalities can be detected in the patients with growth retardation[\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e, \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eThe detection of abnormal chromosomes has important guiding significance for the treatment of children in genetic counseling, eugenics of adults with childbearing age. This report, a retrospective analysis of 5-year data of chromosome karyotypes of genetic counselors, pediatrics and prenatal diagnosis in Meizhou area, has revealed the difference chromosome abnormalities spectrum of different populations. The results of this study provide valuable reference for clinical genetic counseling.\u003c/p\u003e "},{"header":"Results","content":"\u003cp\u003e\u003cstrong\u003ePopulation characteristics\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eA total of 5289 patients (4871 adults (\u0026gt;\u0026thinsp;14\u0026nbsp;years) and 418 children (\u0026le;\u0026thinsp;14\u0026nbsp;years)) performed karyotype analysis were recruited in the study, and the age ranges from 1\u0026nbsp;day to 67\u0026nbsp;years old. In addition, karyotype analysis was performed on 2882 fetuses, including 382 villi samples, 2372 amniotic fluid samples and 128 umbilical cord blood samples.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eChromosomal abnormalities of peripheral blood samples\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eChromosomal abnormalities were detected in a total of 392 peripheral blood samples, and the abnormality detection rate (ADR) was 7.41% (392/5,289), which 6.73% (328/4,871) in adults and 15.31% (64/418) in children. The ADR for sex chromosome aneuploidies, autosomal aneuploidies, structural abnormalities and chromosome polymorphisms were 1.29% (68/5,289), 0.72% (38/5,289), 1.55% (82/5,289) and 3.86% (204/5,289) for all peripheral blood samples, which 1.21% (59/5,289), 0.12% (6/5,289), 1.50% (73/5,289), 3.90% (190/5,289) for adults and 2.15% (9/418), 7.65% (32/418), 2.15% (9/418), 3.35% (14/418) for children. The ADR of chromosome numerical abnormalities in children cases was significantly higher than those in adults (10.05% vs. 1.33%, \u003cem\u003eP\u003c/em\u003e\u0026thinsp;\u0026lt;\u0026thinsp;0.05) (Table\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e\n\u003ctable border=\"1\" width=\"0\"\u003e\u003ccaption\u003e\n\u003cp\u003eTable 1\u003c/p\u003e\n\u003cp\u003eChromosomal abnormalities detected in adults and children.\u003c/p\u003e\n\u003c/caption\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd rowspan=\"2\" width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eChromosomal abnormalities\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd colspan=\"3\" width=\"241\"\u003e\n\u003cp\u003e\u003cstrong\u003eAdults (n=4871)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd colspan=\"3\" width=\"241\"\u003e\n\u003cp\u003e\u003cstrong\u003eChildren \u003c/strong\u003e\u003cstrong\u003e(n=418)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd colspan=\"3\" width=\"241\"\u003e\n\u003cp\u003e\u003cstrong\u003eTotal (n=5289)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003eNo. Abn Cases \u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003eADR (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003eRF (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003eNo. Abn Cases\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003eADR (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003eRF (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003eNo. Abn Cases\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003eADR (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003eRF (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eNumerical abnormality\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eSex Chromosome Aneuploidy\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eMales\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e47,XXY\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e46\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.94\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e14.07\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd 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width=\"81\"\u003e\n\u003cp\u003e0.26\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e46,XX[45]/47,XXX[5]\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.02\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.30\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.02\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.26\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e45,X[62]/46,X,der(X)(p11.2)[38]\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.24\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e1.56\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.02\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.26\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eSubtotal\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e59\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.21\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e17.99\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e9\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e2.15\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e14.06\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e68\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.29\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e17.35\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eAutosomal Aneuploidy\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003eTrisomy 21\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e6\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.12\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e1.83\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e32\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e7.65\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e50.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e38\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.72\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e9.69\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003eTrisomy 18\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003eTrisomy 13\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eSubtotal\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e6\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.12\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.83\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e32\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e7.65\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e50.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e38\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.72\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e9.69\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eTotal\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e65\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.33\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e19.82\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e41\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e9.81\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e64.06\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e106\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e2.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e27.04\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eStructural abnormality\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e73\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.50\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e22.26\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e9\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e2.15\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e14.06\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e82\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.55\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e20.92\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eChromosome polymorphism\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e190\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e3.90\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e57.93\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e14\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e3.35\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e21.88\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e204\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e3.86\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e52.04\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"215\"\u003e\n\u003cp\u003e\u003cstrong\u003eAll chromosomal abnormalities\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e328\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e6.73\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e100.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e64\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e15.31\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e100.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e392\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"80\"\u003e\n\u003cp\u003e\u003cstrong\u003e7.41\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"81\"\u003e\n\u003cp\u003e\u003cstrong\u003e100.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003eADR, abnormality detection rate (%); RF, relative frequency by (%); *Statistically different from ADR in prenatal setting (\u003cem\u003eP\u003c/em\u003e\u0026lt; 0.05).\u003c/p\u003e\n\u003cp\u003eAmong cases with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 27.04% (106/392), 20.92% (82/392) and 52.04% (204/392), respectively. The most frequently seen numerical chromosomal abnormalities by relative frequency (RF) were 47,XXY, trisomy 21, and 45,XO at 11.99%, 9.69%, and 3.06%. In adults, the most frequently seen numerical chromosomal abnormalities by RF were 47,XXY, trisomy 21, and 45,XO at 14.07%, 1.83%, and 1.83%. In children, the most frequently seen numerical chromosomal abnormalities by RF were trisomy 21, and 45,XO at 50.0%, and 9.38% (Table\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e\n\u003cp\u003eThe most common structural chromosomal abnormalities were 46,XN,dup(1)(q11q12) (n\u0026thinsp;=\u0026thinsp;11; RF\u0026thinsp;=\u0026thinsp;13.41%), followed by 46,X,inv(Y)(p11.2q11.23) (n\u0026thinsp;=\u0026thinsp;10; RF\u0026thinsp;=\u0026thinsp;12.20%), and 45,XY,der(13;14)(q10;q10) (n\u0026thinsp;=\u0026thinsp;5; RF\u0026thinsp;=\u0026thinsp;6.10%) (Table S1). The most common chromosome polymorphisms were 46,XN,inv(9)(p13q13) (n\u0026thinsp;=\u0026thinsp;65; RF\u0026thinsp;=\u0026thinsp;31.86%), followed by 46,X,Yqh+ (n\u0026thinsp;=\u0026thinsp;36; RF\u0026thinsp;=\u0026thinsp;17.65%), and 46,X,Y(Y\u0026thinsp;\u0026lt;\u0026thinsp;G) (n\u0026thinsp;=\u0026thinsp;21; RF\u0026thinsp;=\u0026thinsp;10.29%) (Table S1).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eMain clinical manifestations and chromosomal abnormalities\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eBased on the clinical information of the patients, we divided them into infertile group (n\u0026thinsp;=\u0026thinsp;1994), adverse pregnancy and parturition history group (n\u0026thinsp;=\u0026thinsp;1520), growth and developmental abnormalities group (n\u0026thinsp;=\u0026thinsp;322), congenital diseases and mental retardation group (n\u0026thinsp;=\u0026thinsp;113) and other (n\u0026thinsp;=\u0026thinsp;1340). There were statistically significant differences in the chromosomal abnormalities rate in infertile group (\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;47.621, \u003cem\u003eP\u003c/em\u003e\u0026thinsp;\u0026lt;\u0026thinsp;0.001) and adverse pregnancy and parturition history group (\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;47.353, \u003cem\u003eP\u003c/em\u003e\u0026thinsp;\u0026lt;\u0026thinsp;0.001), growth and developmental abnormalities group (\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;10.740, \u003cem\u003eP\u003c/em\u003e\u0026thinsp;=\u0026thinsp;0.014), congenital diseases and mental retardation group (\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;242.107, \u003cem\u003eP\u003c/em\u003e\u0026thinsp;\u0026lt;\u0026thinsp;0.001). The main types of chromosomal abnormalities were chromosome polymorphism (n\u0026thinsp;=\u0026thinsp;79; ADR\u0026thinsp;=\u0026thinsp;3.96%) and sex chromosome aneuploidy (n\u0026thinsp;=\u0026thinsp;40; ADR\u0026thinsp;=\u0026thinsp;2.01%) in infertile group, which chromosome polymorphism (n\u0026thinsp;=\u0026thinsp;68; ADR\u0026thinsp;=\u0026thinsp;4.47%) and structural abnormality (n\u0026thinsp;=\u0026thinsp;36; ADR\u0026thinsp;=\u0026thinsp;2.37%) in adverse pregnancy and parturition history group, chromosome polymorphism (n\u0026thinsp;=\u0026thinsp;12; ADR\u0026thinsp;=\u0026thinsp;3.73%) and sex chromosome aneuploidy (n\u0026thinsp;=\u0026thinsp;12; ADR\u0026thinsp;=\u0026thinsp;3.73%) in growth and developmental abnormalities group, and autosomal aneuploidy (n\u0026thinsp;=\u0026thinsp;33; ADR\u0026thinsp;=\u0026thinsp;29.20%) in congenital diseases and mental retardation group (Table\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e\n\u003cdiv class=\"gridtable\"\u003e\n\u003ctable id=\"Tab2\" border=\"1\"\u003e\u003ccaption\u003e\n\u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e\n\u003cdiv class=\"CaptionContent\"\u003e\n\u003cp\u003eMain clinical manifestations and chromosomal abnormalities.\u003c/p\u003e\n\u003c/div\u003e\n\u003c/caption\u003e\n\u003cthead\u003e\n\u003ctr\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003eGroup\u003c/p\u003e\n\u003c/th\u003e\n\u003cth colspan=\"2\" align=\"left\"\u003e\n\u003cp\u003eNumerical abnormality\u003c/p\u003e\n\u003c/th\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003eStructural abnormality\u003c/p\u003e\n\u003c/th\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003eChromosome polymorphism\u003c/p\u003e\n\u003c/th\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003eTotal (n, %)\u003c/p\u003e\n\u003c/th\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003e\u003cem\u003eP\u003c/em\u003e value\u003c/p\u003e\n\u003c/th\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003cth align=\"left\"\u003e\n\u003cp\u003e\u003cstrong\u003eAutosomal Aneuploidy\u003c/strong\u003e\u003c/p\u003e\n\u003c/th\u003e\n\u003cth align=\"left\"\u003e\n\u003cp\u003e\u003cstrong\u003eSex Chromosome Aneuploidy\u003c/strong\u003e\u003c/p\u003e\n\u003c/th\u003e\n\u003c/tr\u003e\n\u003c/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003eInfertile (n\u0026thinsp;=\u0026thinsp;1994)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e0(0)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e40(2.01)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e16(0.80)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e79(3.96)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e135(6.77)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e\u0026lt;\u0026thinsp;0.001(\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;47.621)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003eAbnormal gestation and birth (n\u0026thinsp;=\u0026thinsp;1520)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e0(0)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e3(0.20)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e36(2.37)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e68(4.47)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e107(7.04)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e\u0026lt;\u0026thinsp;0.001(\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;47.353)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003eGrowth and developmental abnormalities (n\u0026thinsp;=\u0026thinsp;322)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e2(0.62)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e12(3.73)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e5(1.55)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e12(3.73)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e31(9.63)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e0.014 (\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;10.740)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003eCongenital diseases and mental retardation (n\u0026thinsp;=\u0026thinsp;113)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e33(29.20)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e3(2.65)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e4(3.54)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e4(3.54)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e44(38.94)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e\u0026lt;\u0026thinsp;0.001(\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;242.107)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003eOther (n\u0026thinsp;=\u0026thinsp;1340)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e3(0.22)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e10(0.75)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e21(1.57)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e41(3.06)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e75(5.60)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e0.098(\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;6.309)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003c/tbody\u003e\n\u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eChromosomal abnormalities of fetuses\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eChromosomal abnormalities were detected in a total of 307 fetus samples, and the ADR was 10.65% (307/2,882), which 12.30% (47/382) in chorionic villus samples, 10.71% (254/2,372) in amniocentesis samples and 4.69% (6/128) in cord blood samples. The ADR for sex chromosome aneuploidies, autosomal aneuploidies, triploid/tetraploid, structural abnormalities and chromosome polymorphisms were 1.70% (49/2,882), 5.45% (157/2,882), 0.14% (4/2,882), 1.39% (40/2,882) and 1.94% (56/2,882), which 3.14% (12/382), 6.81% (26/382), 0.26% (1/382), 0.52% (2/382), 1.57% (6/382) for chorionic villus samples, 1.52% (36/2,372), 5.40% (128/2,372), 0.13% (3/2,372), 1.56% (37/2,372), 2.07% (49/2,372) for amniocentesis samples and 0.78% (1/128), 2.34% (3/128), 0.78% (1/128), 0.78% (1/128) for cord blood samples.\u003c/p\u003e\n\u003cp\u003eAmong fetuses with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 68.40% (210/307), 13.03% (40/307) and 18.24% (56/307), respectively. The most frequently seen numerical chromosomal abnormalities by RF were trisomy 21, trisomy 18, 45,XO, and 47,XXY at 36.16%, 11.07%, 5.86%, and 4.89%. The most frequently seen numerical chromosomal abnormalities were trisomy 21, trisomy 18, and 45,XO at 25.53%, 19.15%, and 19.15% in chorionic villus samples, which trisomy 21, trisomy 18, and 47,XXY at 38.19%, 9.45%, and 5.51% in amniocentesis samples (Table\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e3\u003c/span\u003e).\u003c/p\u003e\n\u003ctable border=\"1\" width=\"0\"\u003e\u003ccaption\u003e\n\u003cp\u003eTable 3\u003c/p\u003e\n\u003cp\u003eChromosomal abnormalities detected in prenatal diagnosis.\u003c/p\u003e\n\u003c/caption\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd rowspan=\"2\" width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eChromosomal abnormalities\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd colspan=\"3\" width=\"211\"\u003e\n\u003cp\u003e\u003cstrong\u003eChorionic villus samples (CVS) (n=382)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd colspan=\"3\" width=\"211\"\u003e\n\u003cp\u003e\u003cstrong\u003eAmniocentesis (AC) (n=2372)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd colspan=\"3\" width=\"211\"\u003e\n\u003cp\u003e\u003cstrong\u003eCord blood (CB) (n=128)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd colspan=\"3\" width=\"211\"\u003e\n\u003cp\u003e\u003cstrong\u003eTotal (n=2882)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eNo. Abn Cases\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eADR (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eRF (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eNo. Abn Cases\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eADR (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eRF (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eNo. Abn Cases\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eADR (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eRF (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eNo. Abn Cases\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eADR (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003eRF (%)\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eNumerical abnormality\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eSex Chromosome Aneuploidy\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e45,XO\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e9\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e2.36\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e19.15\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e8\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.34\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e3.15\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.78\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e16.67\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e18\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.62\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e5.86\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e45,X[26]/46,XY[4]\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.04\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.39\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.03\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.33\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e47,XXX\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.26\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e2.13\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e5\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.21\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1.97\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e6\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.21\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1.95\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e47,XXY\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.26\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e2.13\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e14\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.59\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e5.51\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e15\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.52\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e4.89\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e47,XXY[13]/46,XX[87]\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.26\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e2.13\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.03\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.33\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e47,XXY[16]/46,XY[34]\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.04\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.39\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.03\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.33\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e47,XYY\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e5\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.21\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1.97\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e5\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.17\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1.63\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e48,XXXY\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.04\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.39\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.03\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.33\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e48,XXYY\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.04\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.39\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.03\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.33\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eSubtotal\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e12\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e3.14\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e25.53\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e36\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.52\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e14.17\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.78\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e16.67\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e49\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.70\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e15.96\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eAutosomal Aneuploidy\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003eTrisomy 21\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e12\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e3.14\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e25.53\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e97\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e4.09\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e38.19\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e2\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1.56\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e33.33\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e111\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e3.85\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e36.16\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003eTrisomy 18\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e9\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e2.36\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e19.15\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e24\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1.01\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e9.45\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.78\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e16.67\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e34\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1.18\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e11.07\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003eTrisomy 13\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e2\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.52\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e4.26\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e6\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.25\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e2.36\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e8\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.28\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e2.61\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003eOther aneuploidy\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e3\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.79\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e6.38\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.04\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.39\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.00\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e4\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e0.14\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e1.30\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eSubtotal\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e26\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e6.81\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e55.32\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e128\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e5.40\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e50.39\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e3\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e2.34\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e50.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e157\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e5.45\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e51.14\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eTriploid \u0026amp; tetraploid\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.26\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e2.13\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e3\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.13\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.18\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e4\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.14\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.30\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eTotal\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e39\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e10.21\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e82.98\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e167\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e7.04\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e65.75\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e4\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e3.13\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e66.67\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e210\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e7.29\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e68.40\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eStructural abnormality\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e2\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.52\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e4.26\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e37\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.56\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e14.57\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.78\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e16.67\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e40\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.39\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e13.03\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eChromosome polymorphism\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e6\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.57\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e12.77\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e49\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e2.07\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e19.29\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.78\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e16.67\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e56\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1.94\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e18.24\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003emos46,XX[28]/46,XY[22]\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.04\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.39\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e1\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.03\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e0.33\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd width=\"178\"\u003e\n\u003cp\u003e\u003cstrong\u003eAll chromosomal abnormalities\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e47\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e12.30\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e100.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e254\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e10.71\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e100.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e6\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e4.69\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e100.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e307\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e10.65\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd width=\"70\"\u003e\n\u003cp\u003e\u003cstrong\u003e100.00\u003c/strong\u003e\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003eADR, abnormality detection rate (%); RF, relative frequency by (%); *Statistically different from ADR in prenatal setting (\u003cem\u003eP\u003c/em\u003e\u0026lt; 0.05)\u003c/p\u003e\n\u003cp\u003eThe most common structural chromosomal abnormalities were 46,X,inv(Y)(p11.2q11.23) (n\u0026thinsp;=\u0026thinsp;4; RF\u0026thinsp;=\u0026thinsp;10.0%), followed by 46,XN,dup(1)(q11q12) (n\u0026thinsp;=\u0026thinsp;3; RF\u0026thinsp;=\u0026thinsp;7.5%), and 46,XN,dup(1)(q11q21) (n\u0026thinsp;=\u0026thinsp;2; RF\u0026thinsp;=\u0026thinsp;5.0%) (Table S2). The most common chromosome polymorphisms were 46,XN,inv(9)(p13q13) (n\u0026thinsp;=\u0026thinsp;28; RF\u0026thinsp;=\u0026thinsp;50.0%), followed by 46,XN,inv(9)(p11q13) (n\u0026thinsp;=\u0026thinsp;2; RF\u0026thinsp;=\u0026thinsp;3.57%), and 46,XN,inv(9)(p13q13) (n\u0026thinsp;=\u0026thinsp;2; RF\u0026thinsp;=\u0026thinsp;3.57%) (Table S2).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eThe relationship of maternal age, gestational age and chromosomal abnormalities\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eBased on the age of the pregnant women, the cases included in this study were divided into less than 35\u0026nbsp;years old group and greater than or equal to 35\u0026nbsp;years old group. There were statistically significant differences in the chromosomal abnormalities rate between this two groups (\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;51.041, \u003cem\u003eP\u003c/em\u003e\u0026thinsp;\u0026lt;\u0026thinsp;0.001). The main types of chromosomal abnormalities were autosomal aneuploidy (n\u0026thinsp;=\u0026thinsp;88; ADR\u0026thinsp;=\u0026thinsp;3.89%) and chromosome polymorphism (n\u0026thinsp;=\u0026thinsp;49; ADR\u0026thinsp;=\u0026thinsp;2.16%) in less than 35\u0026nbsp;years old group, which autosomal aneuploidy (n\u0026thinsp;=\u0026thinsp;69; ADR\u0026thinsp;=\u0026thinsp;11.18%) and sex chromosome aneuploidy (n\u0026thinsp;=\u0026thinsp;16; ADR\u0026thinsp;=\u0026thinsp;2.59%) in greater than or equal to 35\u0026nbsp;years old group. Grouped according to gestational age, there were no significant differences in the chromosomal abnormalities rate in \u0026lt;\u0026thinsp;13 weeks group, 13\u0026ndash;28 weeks group and \u0026gt;\u0026thinsp;28 weeks group (Table\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e4\u003c/span\u003e).\u003c/p\u003e\n\u003cdiv class=\"gridtable\"\u003e\n\u003ctable id=\"Tab4\" border=\"1\"\u003e\u003ccaption\u003e\n\u003cdiv class=\"CaptionNumber\"\u003eTable 4\u003c/div\u003e\n\u003cdiv class=\"CaptionContent\"\u003e\n\u003cp\u003eComparison of karyotype abnormalities at different maternal ages and gestational weeks.\u003c/p\u003e\n\u003c/div\u003e\n\u003c/caption\u003e\n\u003cthead\u003e\n\u003ctr\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003eGroup\u003c/p\u003e\n\u003c/th\u003e\n\u003cth colspan=\"3\" align=\"left\"\u003e\n\u003cp\u003eNumerical abnormality\u003c/p\u003e\n\u003c/th\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003eStructural abnormality\u003c/p\u003e\n\u003c/th\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003eChromosome polymorphism\u003c/p\u003e\n\u003c/th\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003eTotal (n, %)\u003c/p\u003e\n\u003c/th\u003e\n\u003cth rowspan=\"2\" align=\"left\"\u003e\n\u003cp\u003e\u003cem\u003eP\u003c/em\u003e value\u003c/p\u003e\n\u003c/th\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003cth align=\"left\"\u003e\n\u003cp\u003e\u003cstrong\u003eAutosomal Aneuploidy\u003c/strong\u003e\u003c/p\u003e\n\u003c/th\u003e\n\u003cth align=\"left\"\u003e\n\u003cp\u003e\u003cstrong\u003eSex Chromosome Aneuploidy\u003c/strong\u003e\u003c/p\u003e\n\u003c/th\u003e\n\u003cth align=\"left\"\u003e\n\u003cp\u003e\u003cstrong\u003eTriploid \u0026amp; tetraploid\u003c/strong\u003e\u003c/p\u003e\n\u003c/th\u003e\n\u003c/tr\u003e\n\u003c/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003eMaternal age\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e\u0026lt;\u0026thinsp;35\u0026nbsp;years (n\u0026thinsp;=\u0026thinsp;2264)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e88(3.89)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e33(1.46)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e4(0.18)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e29(1.28)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e49(2.16)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e203(8.97)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd rowspan=\"2\" align=\"char\" char=\".\"\u003e\n\u003cp\u003e\u0026lt;\u0026thinsp;0.001(\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;51.041)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e\u0026ge;\u0026thinsp;35\u0026nbsp;years (n\u0026thinsp;=\u0026thinsp;617)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e69(11.18)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e16(2.59)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e0(0)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e11(1.78)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e7(1.13)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e103(16.69)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003eGestational age\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e\u0026lt;\u0026thinsp;13 weeks (n\u0026thinsp;=\u0026thinsp;268)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e16(5.97)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e7(2.61)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e1(0.37)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e2(0.75)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e6(2.24)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e32(11.94)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e0.428(\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;4.579)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e13\u0026ndash;28 weeks (n\u0026thinsp;=\u0026thinsp;2462)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e140(5.69)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e40(1.62)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e3(0.12)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e36(1.46)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e47(1.91)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e266(10.80)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e0.515(\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;4.023)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003ctr\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e\u0026gt;\u0026thinsp;28 weeks (n\u0026thinsp;=\u0026thinsp;151)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e1(0.66)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e2(1.32)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"left\"\u003e\n\u003cp\u003e0(0)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e2(1.32)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e3(1.99)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e8(5.30)\u003c/p\u003e\n\u003c/td\u003e\n\u003ctd align=\"char\" char=\".\"\u003e\n\u003cp\u003e0.069(\u0026chi;\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;9.645)\u003c/p\u003e\n\u003c/td\u003e\n\u003c/tr\u003e\n\u003c/tbody\u003e\n\u003c/table\u003e\n\u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003eChromosomal karyotype abnormality is one of the important causes of infertility, mental retardation, adverse pregnancy, asthenia and unexplained recurrent abortion, and karyotype analysis is an important detection method for chromosomal genetic diseases. The chromosome karyotype analysis of peripheral blood lymphocytes can provide scientific basis for the diagnosis and treatment of clinical chromosome diseases[\u003cspan class=\"CitationRef\"\u003e15\u003c/span\u003e].\u003c/p\u003e\n\u003cp\u003eThe most common reasons of genetic counseling patients are infertility, adverse pregnancy and parturition history, growth and developmental abnormalities and congenital diseases and mental retardation. The onset of these is mainly related to genetic, environmental, immune, among which chromosome abnormalities are one of the important causes of adverse pregnancy history. The results of this study showed that the chromosome karyotype abnormality rate of genetic counseling patients in Meizhou was 7.41%. That was lower than the 10.65% reported in previous study in Guangdong province[\u003cspan class=\"CitationRef\"\u003e16\u003c/span\u003e], 9.89% in Shenzhen[\u003cspan class=\"CitationRef\"\u003e17\u003c/span\u003e], 8.97% in Zaozhuang area[\u003cspan class=\"CitationRef\"\u003e18\u003c/span\u003e], higher than the 6.65% reported in Wuhan in Hubei province[\u003cspan class=\"CitationRef\"\u003e19\u003c/span\u003e], 5.12% in Lianyungang area[\u003cspan class=\"CitationRef\"\u003e20\u003c/span\u003e], 4.39% in Yangzhou area[\u003cspan class=\"CitationRef\"\u003e21\u003c/span\u003e].\u003c/p\u003e\n\u003cp\u003eInfertile men and women have a significantly increased risk of carrying chromosomal abnormalities. The results of this study showed that the chromosome karyotype abnormality rate of infertile male and female was 6.77% and the main types of chromosomal abnormalities were chromosome polymorphism and sex chromosome aneuploidy in these patients. Our results are consistent with some studies[\u003cspan class=\"CitationRef\"\u003e22\u003c/span\u003e]. The rate of chromosomal anomaly in male infertile patients was 4.15% reported by M. Gao \u003cem\u003eet al\u003c/em\u003e from Shenyang Women's and Children's Hospital[\u003cspan class=\"CitationRef\"\u003e23\u003c/span\u003e]. The rate of chromosomal anomaly in the 14965 infertile couples was 3.84%, which 6.84% in the men and in 0.84% the women in Central China reported by Yan Liu \u003cem\u003eet al\u003c/em\u003e[\u003cspan class=\"CitationRef\"\u003e24\u003c/span\u003e]. The prevalence of chromosomal abnormalities was 10.55% among patients receiving genetic counseling in Jilin Province of China[\u003cspan class=\"CitationRef\"\u003e25\u003c/span\u003e].\u003c/p\u003e\n\u003cp\u003eThe chromosome abnormality rate in Chinese population is 0.5%-1.0%, while the chromosome abnormality rate in patients with adverse pregnancy and parturition history is 2%-10%[\u003cspan class=\"CitationRef\"\u003e26\u003c/span\u003e]. The results of this study showed that chromosome abnormality rate in patients with adverse pregnancy and parturition history was 7.04%, which chromosome polymorphism was 4.47% and structural abnormality was 2.37%. It is consistent with those reported in other studies. The main types of chromosomal structure variation are balanced translocation of chromosome, Robertson translocation and inversion. Study has found that karyotype analysis of 1657 patients with abnormal reproductive history in Shenzhen showed that chromosome abnormality rate was 3.26% and polymorphism rate was 3.80%[\u003cspan class=\"CitationRef\"\u003e27\u003c/span\u003e].\u003c/p\u003e\n\u003cp\u003eMental retardation (MR) is a common disease in genetics counseling children, mainly due to central nerve damage caused by the cognitive ability of defects, such as in the crowd prevalence was 1%-3%[\u003cspan class=\"CitationRef\"\u003e28\u003c/span\u003e]. Chromosomal abnormalities can be detected in 10% of patients with delayed growth or mental retardation[\u003cspan class=\"CitationRef\"\u003e29\u003c/span\u003e]. Trisomy 21 is the most common type of chromosome abnormality in children genetic counseling. The Down syndrome critical region (DSCR) is located in 21q22, with a fragment size of about 5.4 Mb[\u003cspan class=\"CitationRef\"\u003e30\u003c/span\u003e]. The duplication of this region can lead to a typical clinical phenotype of Down syndrome in an individual. These clinical manifestations include special facial features, short stature, muscle hypotonia, atlantoaxial instability, reduced neuronal density, cerebellar hypoplasia, intellectual disability and congenital heart defects[\u003cspan class=\"CitationRef\"\u003e30\u003c/span\u003e, \u003cspan class=\"CitationRef\"\u003e31\u003c/span\u003e]. In this study, the number of children with trisomy 21 syndrome accounted for 50% (32/64) of the total number of abnormal karyotypes, followed by chromosome polymorphism 21.88% (14/64). Studies have shown that 17%-41% of children with mental retardation and developmental delay are caused by genetic factors, such as chromosome abnormality, single-gene disease and other genetic abnormalities[\u003cspan class=\"CitationRef\"\u003e32\u003c/span\u003e]. If karyotype analysis is not easy to detect chromosomal abnormalities, 5%-20% of patients can be diagnosed with minor abnormalities by further fluorescence in situ hybridization, MLPA, and comparative genomic hybridization[\u003cspan class=\"CitationRef\"\u003e33\u003c/span\u003e]. Studies have shown that 1q21.1, 15q13.3 and 16p11.2 are chromosome recombination hotspots for mental retardation, autism, epilepsy, schizophrenia and other diseases[\u003cspan class=\"CitationRef\"\u003e34\u003c/span\u003e]. Therefore, the application of different testing techniques can provide stronger diagnostic evidence for genetic counseling and prenatal diagnosis.\u003c/p\u003e\n\u003cp\u003eChromosome polymorphism mainly occurs in the structural heterochromatin region, including heterochromatin region and satellite. Generally, it has no obvious phenotypic effect or pathological significance, and whether it causes clinical effect has been controversial[\u003cspan class=\"CitationRef\"\u003e35\u003c/span\u003e]. In this study, there were 204 cases of chromosome polymorphism, with a detection rate of 3.86%, including qh+, pstk+, ps+, cenh+, inv(9), inv(Y), Y\u0026thinsp;\u0026lt;\u0026thinsp;G.\u003c/p\u003e\n\u003cp\u003eIn this study, among the 2882 fetus samples, 307 cases of chromosomal abnormal karyotypes were detected, with an abnormal rate of 10.65%. Among the abnormal karyotypes, 210 fetus samples with numerical abnormality. And the trisomy syndrome was detected in 153 cases, accounting for 72.86% (153/210), which was the most common abnormal type. Advanced age is a high risk factor for chromosomal abnormalities, especially for aneuploidy. In this study, there were 617 pregnant women with advanced age (\u0026ge;\u0026thinsp;35\u0026nbsp;years), accounting for 21.41%. And the chromosomal abnormalities rate was higher than that in non-elderly pregnant women. In recent years, based on high-throughput sequencing technology to analyze fetal free DNA in maternal plasma, the noninvasive prenatal testing (NIPT) technology to detect fetal chromosome aneuploidy has been widely accepted by pregnant women due to its high sensitivity and specificity and no risk of miscarriage. NIPT mainly detects trisomy 21, 18 and 13, with an accuracy rate of more than 99%[\u003cspan class=\"CitationRef\"\u003e36\u003c/span\u003e]. Its limitation is that the screening only detect numerical abnormalities, and cannot detect structural abnormalities such as chromosome deletion, duplication, translocation and inversion.\u003c/p\u003e"},{"header":"Conclusions","content":" \u003cp\u003eIn conclusion, abnormal chromosome karyotype detection rate is higher in genetic counselors in Meizhou area. Abnormal chromosome karyotype can cause infertility, abnormal gestation and birth, growth and developmental abnormalities, congenital diseases and mental retardation, and other diseases. Therefore, karyotype analysis has great significance for clinical diagnosis, guide the healthy birth, and improve the quality of the population.\u003c/p\u003e "},{"header":"Methods","content":"\u003cp\u003e\u003cstrong\u003ePatients\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis retrospective clinical study included 5,289 adults and children cases, 2,882 fetuses performed chromosome karyotype in Meizhou \u003cem\u003ePeople's\u003c/em\u003e\u003cem\u003eHospital (Huangtang Hospital), \u003c/em\u003eMeizhou Academy of Medical Sciences, \u003cem\u003eMeizhou\u003c/em\u003e Hospital Affiliated to Sun Yat-sen University between January 2015 and March 2020. This study was conducted on the basis of the Declaration of Helsinki and was supported by the Ethics Committee of the Meizhou \u003cem\u003ePeople's\u003c/em\u003e\u003cem\u003eHospital\u003c/em\u003e.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eKaryotyping\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eKaryotyping was performed on G-band metaphases prepared from cultured cells of specimens obtained from peripheral blood (PB), chorionic villus sampling (CVS), amniocentesis (AC) and cord blood (CB), and following the laboratory\u0026rsquo;s standardized procedures. The detected chromosomes were named according to the International System for Human Cytogenetic Nomenclature (ISCN).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCategorization of the chromosomal abnormalities\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThere are two main types of chromosomal abnormalities: (1) numerical abnormalities, including sex chromosome aneuploidies (47,XXY, 47,XYY, other X or Y aneuploidies for males and 45,X, 47,XXX, other X aneuploidies for females), autosomal aneuploidies (trisomy 21, trisomy 18, trisomy 13, and other autosomal aneuploidies), triploidy and tetraploidy; (2) structural abnormalities, including balanced rearrangements (reciprocal translocations, Robertsonian translocations, inversions, etc.) and unbalanced structural rearrangements (deletions, duplications, etc.). The workflow of genetic counselors and prenatal diagnosis cases processing with detected chromosomal abnormalities and their categories is depicted in Figure 1.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eStatistical analysis\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eSPSS statistical software version 21.0 was used for data analysis. Values are expressed as n (%). Fisher's exact tests were used to compare the positive ratios between groups. A value of \u003cem\u003eP\u003c/em\u003e\u0026lt;0.05 was considered as statistically significant.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe study was approved by the Ethics Committee of Medicine, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe data used to support the findings of this study are available from the corresponding author upon request.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study was supported by the Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translation Research of Hakka Population\u0026nbsp;(Grant No.: 2018B030322003).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors' contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eHeming Wu designed the study. Hua Zhong performed the experiments. Heming Wu and Hua Zhong collected clinical data. Hua Zhong, Zhikang Yu and Qingyan Huang analyzed the data. Heming Wu prepared the manuscript. All authors were responsible for critical revisions, and all authors read and approved the final version of this work.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgments\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe author would like to thank other colleagues whom were not listed in the authorship of Center for Precision Medicine, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University for their helpful comments on the manuscript.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eTjio JH. The chromosome number of man. Am J Obstet Gynecol. 1978; 130(6):723-4.\u003c/li\u003e\n\u003cli\u003eHecht F. Human and mammalian cytogenetics. An historical perspective. 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Chin J Birth Health Hered. 2017; 1:67-69.\u003c/li\u003e\n\u003cli\u003eMau-Holzmann UA. Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res. 2005; 111(3-4):317-36.\u003c/li\u003e\n\u003cli\u003eGao M, Pang H, Zhao YH, Hua J, Tong D, Zhao H, et al. Karyotype analysis in large sample cases from Shenyang Women's and Children's hospital: a study of 16,294 male infertility patients. Andrologia. 2017; 49(4).\u003c/li\u003e\n\u003cli\u003eLiu Y, Kong XD, Wu QH, Li G, Song L, Sun YP. Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples. J Assist Reprod Genet. 2013; 30(4):547-53.\u003c/li\u003e\n\u003cli\u003eZhang M, Fan HT, Zhang QS, Wang XY, Yang X, Tian WJ, et al. Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China. Genet Mol Res. 2015; 14(4):16178-84.\u003c/li\u003e\n\u003cli\u003eCodina-Pascual M, Navarro J, Oliver-Bonet M, Kraus J, Speicher MR, Arango O, et al. Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes. Hum Reprod. 2006; 21(6):1490-7.\u003c/li\u003e\n\u003cli\u003eDan S, Qian WP, Xiao-Qing XU. Chromosome Analysis for 1657 cases with abnormal reproduction history from ShenZhen area. Hebei Med. 2003; 9:986-8.\u003c/li\u003e\n\u003cli\u003eStevenson RE, Holden KR, Rogers RC, Schwartz CE. Seizures and X-linked intellectual disability. Eur J Med Genet. 2012; 55(5):307-12.\u003c/li\u003e\n\u003cli\u003eMefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. N Engl J Med 2012; 366(23): 2231-2.\u003c/li\u003e\n\u003cli\u003eLana-Elola E, Watson-Scales SD, Fisher EM, Tybulewicz VL. Down syndrome: searching for the genetic culprits. Dis Model Mech. 2011; 4(5):586-95.\u003c/li\u003e\n\u003cli\u003eAntonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, et al. Down syndrome. Nat Rev Dis Primers. 2020; 6(1):9.\u003c/li\u003e\n\u003cli\u003eBernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, et al. High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Eur J Hum Genet. 2010; 18(2):178-85.\u003c/li\u003e\n\u003cli\u003eTucker T, Montpetit A, Chai D, Chan S, Ch\u0026eacute;nier S, Coe BP, et al. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics. 2011; 4:25.\u003c/li\u003e\n\u003cli\u003eMefford HC, Eichler EE. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev. 2009; 19(3):196-204.\u003c/li\u003e\n\u003cli\u003eHalbrecht I, Shabtay F. Human chromosome polymorphism and congenital malformations. Clin Genet. 1976; 10((2NA-NA-760903-760909)):113-22.\u003c/li\u003e\n\u003cli\u003eZhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015; 45(5):530-8.\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"chromosome karyotype, genetic counselors, pediatrics, prenatal diagnosis, Meizhou","lastPublishedDoi":"10.21203/rs.3.rs-148251/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-148251/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground:\u003c/strong\u003e Karyotype analysis has been used in a clinical cytogenetic laboratory. A retrospective analysis of karyotype analysis in Meizhou area to provide valuable reference for clinical genetic counseling. A retrospective analysis of 5-year data of karyotype analysis from 5,289 peripheral blood samples and 2,882 fetuses between January 2015 and March 2020 in Meizhou area.\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eResults:\u003c/strong\u003e Chromosomal abnormalities were detected in a total of 392 peripheral blood samples, and the abnormality detection rate (ADR) was 7.41% (392/5,289). The ADR for sex chromosome aneuploidies, autosomal aneuploidies, structural abnormalities and chromosome polymorphisms were 1.29% (68/5,289), 0.72% (38/5,289), 1.55% (82/5,289) and 3.86% (204/5,289). Among cases with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 27.04% (106/392), 20.92% (82/392) and 52.04% (204/392), respectively. There were statistically significant differences in the chromosomal abnormalities rate different types of patients. In addition, chromosomal abnormalities were detected in a total of 307 fetus samples, and the ADR was 10.65% (307/2,882). The ADR for sex chromosome aneuploidies, autosomal aneuploidies, triploid/tetraploid, structural abnormalities and chromosome polymorphisms were 1.70% (49/2,882), 5.45% (157/2,882), 0.14% (4/2,882), 1.39% (40/2,882) and 1.94% (56/2,882). Among fetuses with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 68.40% (210/307), 13.03% (40/307) and 18.24% (56/307), respectively. The chromosomal abnormalities rate was higher than that in non-elderly pregnant women.\u003cstrong\u003e \u003c/strong\u003eAbnormal chromosome karyotype detection rate is higher in genetic counselors in Meizhou area.\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eConclusions: \u003c/strong\u003eKaryotype analysis has great significance for clinical diagnosis, guide the healthy birth, and improve the quality of the population.\u003c/p\u003e","manuscriptTitle":"A Large-scale Karyotype Analysis of Genetic Counselors and Fetuses Among Hakka Population in Southern China","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2021-01-20 20:06:40","doi":"10.21203/rs.3.rs-148251/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"a8420e0d-7e5e-4581-b49a-9b2034233fb6","owner":[],"postedDate":"January 20th, 2021","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":1993303,"name":"Molecular Genetics"}],"tags":[],"updatedAt":"2021-01-20T20:06:41+00:00","versionOfRecord":[],"versionCreatedAt":"2021-01-20 20:06:40","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-148251","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-148251","identity":"rs-148251","version":["v1"]},"buildId":"i_I_jhV-QviBjPLXJga9V","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}