Factors influencing the reproductive outcome of preimplantation genetic testing for monogenic disorders: a single-center retrospective cohort study

Factors influencing the reproductive outcome of preimplantation genetic testing for monogenic disorders: a single-center retrospective cohort study | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Factors influencing the reproductive outcome of preimplantation genetic testing for monogenic disorders: a single-center retrospective cohort study Ning Wang, Dawei Chen, Qing Zhang, Dan Kuang, Yiqi Yin, Xuejiao Shi, and 5 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4450499/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 Objective The objective of this study was to explore the factors influencing the cumulative live birth rate (CLBR) for couples undergoing preimplantation genetic testing for monogenic disorders (PGT-M). Methods This was a retrospective cohort study involving couples who underwent PGT-M at our center from January 2017 to December 2023. A multivariate logistic regression analysis was applied to explore the following factors that may influence CLBR per patient of PGT-M: female age, oocytes pick up (OPU) times, genetic category, COH protocol, number of oocytes retrieved/number of transferable embryos, sperm diagnosis, pathogenic gene source, and dosage of gonadotrophins (Gn). Results A total of 160 couples, 208 oocyte retrieval (OR) cycles, 193 PGT cycles met inclusionary criteria. Among them, 162 single embryo of 119 couples were transferred, resulting in a CLBR of 72.27% per patient and 67.44% per OR cycle. The logistic regression showed that female age (OR: 0.12, 95%CI: 0.02–0.73, P = 0.021), OPU times (OR: 0.27, 95%CI:0.08–0.90, P = 0.032), number of oocytes retrieved (OR: 14.28, 95%CI: 1.01-202.47, P = 0.049) and number of transferable embryos (OR: 10.52, 95%CI: 2.73–40.59, P < 0.001) were associated with CLBR per patient. Furthermore, our research innovatively suggested that the aneuploidy of embryos is not related to the genetic category of monogenic diseases (37% in AD vs 11% in XLD vs 33% in AR vs 41% in XLR, P > 0.05) and whether the embryo is affected or not (34% in unaffected embryos vs 44% in affected embryos, P > 0.05). Conclusion The CLBR per patient of PGT-M is significantly associated with female age, OPU times, number of oocytes retrieved / number of transferable embryos. live birth preimplantation genetic testing monogenic disorders embryo aneuploidy Figures Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Introduction Preimplantation genetic testing for monogenic diseases (PGT-M) is a powerful tool to block the vertical transmission of monogenic disorders within a family. Cumulative live birth rate (CLBR) per oocyte retrieved (OR) cycle and per patient are both recommended as measures of success rate for assisted reproductive technology (ART). In clinical practice, patients may ask “What are my chances of ultimately achieving a live birth through PGT-M?” CLBR per patient refers to the probability of achieving a live birth over a series of ART treatment cycles for an individual patient, until the patient either discontinues treatment or achieves a successful birth. A study has shown women's age, BMI, duration of infertility years, infertility factors, controlled ovarian hyperstimulation (COH) protocol, number of retrieved oocytes, and number of transferable embryos are the prognosis factors that significantly affected the CLBR of ART (IVF and ICSI) [1] . However, relatively few studies were dedicated to exploring the factors affecting CLBR in PGT-M. The principle purpose of this study was to determine the factors influencing the CLBR of PGT-M couples. Moreover, we also aimed to further investigate the impact of female age on the embryo quantity and quality of PGT-M, as well as the influence of genetic categories and disease status (whether affected or not) on embryo aneuploidy. Materials and Methods Patient population This is a retrospective cohort study including all consecutive couples who underwent PGT-M at the Reproductive Medicine Center of the First Affiliated Hospital of Anhui Medical University from January 2017 to December 2023. Each patient received a combined diagnosis of PGT-M and preimplantation genetic testing for aneuploidy (PGT-A), and all underwent frozen-thawed single embryo transfer. Cycles involving oocyte donation, sperm donation, or natural cycle protocol were excluded from the analysis. Patients were divided into four groups based on genetic categories to assess baseline characteristics, in vitro fertilization data, PGT data, and reproductive outcomes. The primary outcome was CLBR per OR cycle and CLBR per patient. ICSI, embryo biopsy, genetic test and embryo transfer Before the first PGT cycle, peripheral blood DNA was extracted from the proband and both members of the couples to construct single nucleotide polymorphism (SNP) haplotypes on both sides of the mutation. After ovulation induction with COH protocol, ICSI was performed. The fertilized eggs were cultured until day 5 or 6, and approximately 5–10 trophectoderm cells were biopsied under laser assistance when blastocysts formed. Vitrification was performed on all biopsied blastocysts. SNP linkage analysis based on NGS was performed to identify the risk haplotype, and sanger sequencing was conducted to verify the results of haplotype analysis. Additionally, copy number variation (CNV) analysis was performed for low-depth PGT-A. A high-quality, unaffected and euploid embryo was selected for FET. Statistics To compare the differences among four genetic categories, continuous data were compared by One-way ANOVA or Kruskal-Wallis H-test, and categorical variables were compared by chi-square test. A multivariate logistic regression was performed to explore the following factors that may influence CLBR per patient of PGT-M: female age, female BMI, oocytes pick up (OPU) times, genetic category, COH protocol, number of oocytes retrieved, sperm diagnosis, pathogenic gene source, and dosage of gonadotrophins (Gn). An additional model was also performed, replacing number of oocytes retrieved with number of transferable embryos to avoid collinearity. Mann-Whitney U test and Pearson correlation analysis was conducted between female age and number of oocytes retrieved, number of euploid embryos, number of transferable embryos, euploidy rate, and transferable rate, respectively. Curve fitting was performed between the number of transferable embryos and CLBR per OR cycle. All statistical analyses were performed using SPSS version 27.0 (IBM Corp. Armonk, NY, USA). Results Baseline characteristics Between January 2017 and December 2023, 160 patients received PGT treatment in our center, which consisted of 68 (37.5%) couples with autosomal dominant (AD) genetic diseases, 4 (2.5%) with X-linked dominant (XLD) genetic diseases, 60 (37.5%) with autosomal recessive (AR) genetic diseases, and 28 (17.5%) with X-linked recessive (XLR) genetic diseases. These patients suffered from 86 types of monogenic diseases, involving multiple organs and systems, including 10 types of multisystem diseases, 19 types of musculoskeletal system diseases, 11 types of neurological system diseases, 5 types of hematologic system diseases, 15 types of metabolic diseases, 6 types of endocrine diseases, 2 types of immune system diseases, 5 types of urinary system diseases, 2 types of skin diseases, and 11 types of eye or ear diseases (Fig. 1 ). The most common disease was autosomal dominant polycystic kidney disease (ADPKD), with 34 patients affected, out of which 24 are male. 22 male ADPKD patients suffered from varying degrees of oligoasthenoteratozoospermia, which led to a significantly lower sperm motility in AD group. Female age in AD (29.94 ± 3.45y) and XLD (28 ± 2.83y) group were lower than that in AR (32.28 ± 4.37y) and XLR (33.21 ± 3.68y) group (P < 0.05). Additionally, compared to AR and XLR groups, the AD group had a higher number of antral follicles and required a lower dosage of gonadotropins (both P < 0.05) (Table 1 ). Table 1 Baseline characteristics of patients according to genetic category AD XLD AR XLR Total Number of couples (%) 68(42.5%) 4(2.5%) 60(37.5%) 28(17.5%) 160 Female age (years ± SD) 29.94 ± 3.45 a 28 ± 2.83 a 32.28 ± 4.37 b 33.21 ± 3.68 b 31.34 ± 4.07 Male age (years ± SD) 31.43 ± 3.67 a 30.75 ± 3.1 ab 33.07 ± 4.87 b 34.39 ± 3.52 b 32.54 ± 4.25 Number of cycles to OR (mean/patient ± SD) 88(1.29 ± 0.49) 5(1.25 ± 0.5) 78(1.3 ± 0.56) 37(1.32 ± 0.55) 208(1.3 ± 0.52) BMI (kg/㎡) (mean/patient ± SD) 22.61 ± 6.23 23.53 ± 4.92 21.96 ± 2.41 22.46 ± 3.04 22.34 ± 4.53 FSH (mIU/ml) (mean/patient ± SD) 6.88 ± 2.03 6.72 ± 1.07 8.25 ± 3.41 7.21 ± 2.68 7.46 ± 2.76 AFC 1172(17.24 ± 6.07) a 58(14.5 ± 6.35) ab 801(13.35 ± 6.19) b 369(13.18 ± 6.16) b 2400(15 ± 6.38) Sperm concentration (10/mL) (mean/patient ± SD) 69.3 ± 71.32 34.8 ± 29.58 86.68 ± 84.68 85.41 ± 69.08 77.83 ± 75.84 Sperm motility %(PR, mean/patient ± SD) 29.13 ± 21.48 a 34.55 ± 26.79 ab 46.73 ± 24.71 b 46.67 ± 17.69 b 39 ± 23.73 Gn days 10.52 ± 2 10.2 ± 1.48 10.51 ± 2.47 10.54 ± 2.02 10.51 ± 2.17 Gn dose 2184.52 ± 834 a 2760 ± 1246.95 ab 2510.8 ± 973.92 b 2489.86 ± 880.3 ab 2375.02 ± 915.59 OR = oocyte retrieval; AFC = antral follicle count; Gn = gonadotropin. Age refered to the age at which the couple first undergoes egg retrieval. Data in the same column labeled with the same letter indicated non-significant differences (P > 0.05), while different letters indicate significant differences (P < 0.05). In vitro fertilization data 160 patients underwent 208 oocyte retrieval cycles, with an average of 1.3 cycles per patient. The number of retrieved eggs, fertilized eggs, cleaved eggs, and blastocysts in the AD group were significantly higher than AR and XLR groups (all P < 0.05), which might be due to the younger female age in AD group. However, there were no significant differences in fertilization rate, cleavage rate, and blastocyst formation rate among different genetic categories and different age groups (Table 2 ). Table 2 In vitro fertilization data of patients according to genetic category AD XLD AR XLR Total Number of couples 68 4 60 28 160 Number of cycles to OR (mean/patient ± SD) 88(1.29 ± 0.49) 5(1.25 ± 0.5) 78(1.3 ± 0.56) 37(1.32 ± 0.55) 208(1.3 ± 0.52) Number of oocytes retrieved (mean/OR ± SD) 1564(17.77 ± 9.48) a 71(14.2 ± 7.53) ab 1036(13.28 ± 9.01) b 449(12.14 ± 7.69) b 3120(15 ± 9.23) Number of mature oocytes (mean/OR ± SD) 1240(14.09 ± 8.15) a 55(11 ± 4.64) ab 846(10.85 ± 7.92) b 356(9.62 ± 5.68) b 2479(12 ± 7.79) Maturity rate (%) 79.28% 77.46% 81.66% 79.29% 80.03% Number of oocytes fertilized (mean/OR ± SD) 1071(12.17 ± 7.51) a 46(9.2 ± 3.27) ab 747(9.58 ± 7.12) b 304(8.22 ± 5.41) b 2168(10.42 ± 7.09) Fertilization rate (%) 86.37% 83.64% 88.30% 85.39% 86.82% Number of oocytes cleavaged (mean/OR ± SD) 1054(11.98 ± 7.35) a 43(8.6 ± 3.71) ab 739(9.47 ± 7.03) b 300(8.11 ± 5.18) b 2136(10.27 ± 6.96) Cleavage rate (%) 98.41% 93.48% 98.93% 98.68% 98.52% Number of blastocyst (mean/OR ± SD) 597(6.78 ± 4.9) a 28(5.6 ± 4.16) ab 386(4.95 ± 4.64) b 173(4.68 ± 4.43) b 1184(5.69 ± 4.77) Blastocyst rate (%) 56.64% 65.12% 52.23% 57.67% 55.43% Data in the same column labeled with the same letter indicated non-significant differences (P > 0.05), while different letters indicated significant differences (P < 0.05). PGT data analysis 160 patients underwent 193 PGT cycles, with an average of 1.21 cycles per patient. All patients selected the PGT-M combined with PGT-A. The numbers of biopsied embryos and clearly diagnosed embryos in the AD group were significantly higher than in the AR and XLR groups, following the same trend as the number of retrieved oocytes (all P < 0.05). However, there was no significant difference in the diagnostic rate. A transferable embryo was defined as a high-quality, euploid and unaffected (including no-risk haplotype and carrier) embryo. Overall, the transferable rate was 24.59% (per biopsied embryo) and 8.72% (per retrieved oocyte). Both rates were significantly lower in AD group than AR group (both P < 0.05), which is consistent with theoretical expectations (Table 3 ). The XLD group had the highest frequency of no-risk haplotype at 47%, followed by the AD group at 45%, the XLR group at 43%, and the AR group at 23% (AD vs AR, P < 0.001; AD vs XLR, XLD vs AR, XLR vs AR, P < 0.05). The carrier frequency in the AR group was significantly higher than XLR group (43% vs 15%, P < 0.001). The pathogenic embryo frequencies were 46% in AD group, 47% in XLD group, 26% in AR group, and 35% in XLR group (AD vs AR, AD vs XLR, P < 0.001; XLD vs AR, P < 0.05). After excluding embryos without definite diagnosis, the actual distribution frequencies of normal, carrier, and pathogenic embryos in the AD, XLD, and AR groups roughly matched the theoretical values. However, the actual distribution frequencies for the XLR group were 46% normal, 16% carrier and 38% pathogenic, which do not align with the theoretical values. This discrepancy may be due to the small sample size. There was no significant difference in PGT-A results (euploid, aneuploid and mosaic) among the four genetic categories. Similarly, there was no difference in PGT-A results between affected and unaffected embryos (Fig. 2 ). The combined diagnostic results of PGT-A and PGT-M are presented in Table 4 . Table 3 PGT data of patients according to genetic category AD XLD AR XLR Total Number of couples 68 4 60 28 160 Number of cycles to OR (mean/patient ± SD) 88(1.29 ± 0.49) 5(1.25 ± 0.5) 78(1.3 ± 0.56) 37(1.32 ± 0.55) 208(1.3 ± 0.52) Number of cycles to PGT (mean/patient ± SD) 87(1.28 ± 0.51) 5(1.25 ± 0.5) 67(1.12 ± 0.52) 34(1.21 ± 0.63) 193(1.21 ± 0.54) Number of embryos biopsied (mean/PGT ± SD) 554(6.52 ± 3.89) a 30(6 ± 3.94) ab 351(5.24 ± 3.55) b 171(4.89 ± 4.42) b 1106(5.76 ± 3.91) Number of embryos clearly diagnosed (mean/PGT ± SD) 499(5.87 ± 3.55) a 28(5.6 ± 3.05) ab 318(4.75 ± 3.16) b 156(4.46 ± 3.85) b 1011(5.24 ± 3.51) Diagnostic rate (%) 90.07% 93.33% 90.60% 91.23% 91.41% Number of transferable embryos (mean/PGT ± SD) 114(1.34 ± 1.35) 9(2.2 ± 1.79) 108(1.61 ± 1.5) 41(1.17 ± 1.76) 272(1.42 ± 1.48) Transferrable rate (% per embryo biopsied) 20.58% a 30.00% ab 30.77% b 23.98% ab 24.59% Transferrable rate (% per oocyte retrived) 7.29% a 12.68% ab 10.42% b 9.13% ab 8.72% PGT = preimplantation genetic testing. Data in the same column labeled with the same letter indicated non-significant differences (P > 0.05), while different letters indicated significant differences (P < 0.05). Table 4 PGT-M and PGT-A results of embryos according to genetic category AD XLD AR XLR Total Unaffected & euploid 114(23.36%) a 9(32.14%) ab 107(33.97%) b 41(26.97%) ab 271(27.57%) Unaffected & aneuploid 79(16.19%) a 2(7.14%) ab 76(24.13%) b 37(24.34%) ab 194(19.74%) Unaffected & mosaism 45(9.22%) 3(10.71%) 41(13.02%) 15(9.87%) 104(10.58%) Affected & PGT-A not done 210(43.03%) a 9(32.14%) ab 84(26.67%) b 49(32.24%) ab 352(35.81%) Affected & euploid 16(3.28%) a 4(14.29%) b 4(1.27%) a 2(1.32%) a 26(2.64%) Affected & aneuploid 19(3.89%) a 0(0.00%) ab 2(0.63%) b 6(3.95%) ab 27(2.75%) Affected & mosaic 5(1.02%) 1(3.57%) 1(0.32%) 2(1.32%) 9(0.92%) Total 488(100%) 28(100%) 315(100%) 152(100%) 983(100%) Unaffected includes no-risk haplotype and carrier embryos according to genetic category. Data in the same column labeled with the same letter indicated non-significant differences (P > 0.05), while different letters indicated significant differences (P < 0.05). Reproductive outcome Of the 160 patients undergoing oocyte retrieval, 119 patients underwent at least one embryo transfer (74.38%). A clinical pregnancy was obtained in 89 patients, 92 OR cycles and 95 FET cycles (CPR: 74.79% per patient, 71.32% per OR and 58.64% per FET), which led to a live birth in 86 patients, 87 OR cycles and 88 FET cycles (CLBR: 72.27% per patient, 67.44% per OR and 54.32% per FET). There was no significant difference in cumulative pregnancy rate (CPR) and CLBR between the 4 genetic categories. There were 87 singleton deliveries for 85 couples (two couples underwent 2 FET cycles and gave 2 live birth,), and one single-egg twin delivery for one couple, with a total of 89 liveborn children for 86 couples. Seven miscarriages were also reported (miscarriage rate: 5.88%). No stillbirths, ectopic pregnancies, or multiple gestations occurred (Table 5 ). When analyzing the influencing factors of CLBR, we considered female age, OPU times, number of oocytes retrieved/ number of transferable embryos, genetic category (AD,XLD AR,XLR), COH protocol, sperm diagnosis, mutation source, Gn dosage, and BMI. Among these factors, the multivariate logistic regression shows the CLBR per patient of PGT-M is significantly associated with female age, OPU times, number of oocytes retrieved, and number of transferable embryos (Fig. 3 ) . As OPU time increased, CLBR decreased (2 vs 1, OR:0.27; 95%CI:0.08–0.90; P = 0.032). Regarding the number of oocytes retrieved, CLBR showed a decreasing trend as follows: >30, 11–20, 1–10, 21–30 (> 30 vs 1–10, OR:14.28; 95%CI:1.01-202.47; P = 0.049). For transferable embryos, CLBR was significantly higher in groups with 2–3 and 4–6 embryos than in those with 1 (2–3 vs 1, OR:10.52; 95CI%: 2.73–40.59; P < 0.001. 4–6 vs 1, OR:6.9; 95%CI:1.17–40.61; P = 0.033) (Fig. 3 ) . The age range of 35–37 years is the turning point for the decrease in CLBR (OR: 0.12; 95%CI:0.02–0.73; P = 0.021). In order to explore the reasons for this, we analyzed the in vitro fertilization data and PGT data among different female ages. It was found that there were no significant differences in maturation rate, fertilization rate, cleavage rate, and blastocyst formation rate among women of different ages. However, number of oocytes retrieved (11 [6, 14.5] vs 14 [9, 21], median [IQR], P < 0.001), number of euploid embryos (1 [0, 1.75] vs 2 [1, 3], P < 0.001), number of transferable embryos (0.5 [0, 1] vs 1 [0, 2.75], P = 0.005), and euploidy rate (20 [0, 50]% vs 33.33 [25, 50], P = 0.038) were significantly lower in women ≥ 35y than women < 35y. Moreover, Pearson correlation coefficient indicated the number of retrieved oocytes (r=-0.487, P = 0.025) and the number of euploid embryos (r=-0.468, P = 0.032) were significantly negatively correlated with female age (Fig. 4 ). There was no statistically significant difference in COH protocol, Gn dosage, BMI, sperm diagnosis, mutation source, and genetic category. However, the CLBR of patients using the gonadotropin-releasing hormone (GnRH) agonist long protocol was notably higher than that of the GnRH-antagonist protocol (77.94% vs 68.75%, P > 0.05), and the CLBR of couples with oligoasthenoteratozoospermia was notably lower than that of those without the condition (69.86% vs 78.26%, P > 0.05). Table 5 Reproductive outcome of patients according to genetic category AD XLD AR XLR Total Number of couples 68 4 60 28 160 No. of patients with at least one transfer cycle 56 4 45 14 119 No. of OR cycles with at least one transfer cycle 61 4 47 17 129 Number of embryos (cycles) transferred 78 5 59 20 162 No. of patients with at least one clinical pregnancy 43 4 34 8 89 No. of OR cycles with at least one clinical pregnancy 45 4 34 9 92 Number of FET cycles with at least one clinical pregnancies 48 4 34 9 95 Clinical pregnancy rate (% per patient) 76.79% 100.00% 75.56% 57.14% 74.79% Clinical pregnancy rate (% per OR) 73.77% 100.00% 72.34% 52.94% 71.32% Clinical pregnancy rate (% per FET) 61.54% 80.00% 57.63% 45.00% 58.64% Number of babies 44 4 33 8 89 No. of patients with at least one live birth 42 4 32 8 86 No. of OR cycles with at least one live birth 43 4 32 8 87 No. of ET cycles with at least one live birth 44 4 32 8 88 Live birth delivery rate (% per patient) 75.00% 100.00% 71.11% 57.14% 72.27% Live birth delivery rate (% per OR) 70.49% 100.00% 68.09% 47.06% 67.44% Live birth delivery rate (% per FET) 56.41% 80.00% 54.24% 40.00% 54.32% Number of miscarriages 4 0 2 1 7 Miscarriage rate (% per patient) 7.14% 0.00% 4.44% 7.14% 5.88% Miscarriage rate (% per OR) 6.56% 0.00% 4.26% 5.88% 5.43% OR = oocyte retrieval; FET = frozen–warmed embryo transfer. Data in the same column labeled with the same letter indicate non-significant differences (P > 0.05), while different letters indicate significant differences (P < 0.05). Each FET cycle involves single embryo transfer, but there is one case of monozygotic twins in the AR group. Discussion Previous studies have indicated that the CLBR per patient and per OR cycle of ART (mainly involving IVF and ICSI) in most reproductive centers range from 30–50% [ 1 , 2 – 5 ] , but some centers can achieve rates as high as 80% [ 6 ] . The overall CLBR per patient and per OR cycle of PGT-M in this study is 72.27% and 67.44%, which is higher than the current average CLBR of IVF/ICSI. This might be attributed to the lower average age of the patients in this study. There are many studies focused on the reproductive outcomes and influencing factors of IVF, ICSI, PGT-A, and preimplantation genetic testing for structural rearrangements (PGT-SR), but research on PGT-M is relatively scarce [ 1 ][ 3 ][ 8 ] . This article aims to investigate factors affecting CLBR of PGT-M. The logistic multivariate regression analysis in present study shows that female age, number of retrieval cycles, number of retrieved oocytes and number of transferable embryos all significantly influence the CLBR per patient of PGT-M. Past studies have revealed that female age is an important factor influencing the CLBR and embryo quantity and quality in IVF and ICSI, with 35–37 years old being a critical turning point [ 8 – 14 ] . In our study, excluding the groups with a sample size too small (n = 3 at 38y, n = 1 at 42y), the CLBR of PGT-M gradually decreases after 30 years old, with a significant and sharp decline in the 35–37 age group (P < 0.05). Previous studies have consistently shown that there is a negative correlation between female age and both the number of euploid embryos and the proportion of euploid embryos. This correlation remains relatively stable under the age of 35, but shows a rapid and significant decline after the age of 35 [ 15 – 18 ] . Correspondingly, there is a significant decline in number of oocytes retrieved, number of euploid embryos, number of transferable embryos, and euploidy rate after the age of 35 in our study, which is consistent with previous findings. This may suggest that the reduced number of oocytes retrieved and euploid embryos is an important factor contributing to the decline in CLBR of PGT-M in advanced maternal age. It's worth noting that one study showed during the 25–30 age range, there was an increasing trend in both the number and proportion of euploid embryos, which aligns with our research [ 18 ] . However, our article is the first to investigate this phenomenon in PGT-M cases. Ji et al found that in a fresh embryo transfer cycle of IVF, between 6 and 15 retrieved oocytes might be the optimal number in order to maximize live birth rate and minimize the risk of ovarian hyper stimulation syndrome (OHSS). However, when including fresh and all subsequent FET cycles, CLBR continued to increase with oocyte number, as did the incidence of moderate-severe OHSS [ 19 ] . In this study of PGT-M, the CLBR for patients with more than 30 retrieved oocytes was significantly higher than other groups (P < 0.05), with the second highest CLBR observed in the 11–20 retrieved oocytes group. Nevertheless, in order to maintain a low rate of OHSS and ensure an adequate number of transferable embryos after PGT-M, we recommend that the optimal number of retrieved oocytes for PGT-M patients be between 10–20. CLBR was inversely related to OPU times in present syudy. Previous studies have shown that the success rate of patients who undergo a third ART cycle after two failed cycles is significantly reduced [ 20 – 21 ] . This may be due to the fact that patients who undergo multiple retrievals often suffered from issues such as diminished ovarian reserve (DOR), poor embryo quality, chromosomal abnormalities, and abnormal endometrial thickness, resulting in insufficient numbers of blastocysts and transferable embryos, or difficulties in embryo implantation. We found the genetic categories (AD, XLD, AR, XLR) did not have a significant impact on the CLBR and CPR, possibly because only patients with transferable embryos were selected for transfer, and the calculation of CLBR only includes patients who underwent at least one transfer cycle. But the transferable embryo rate of AR group was significantly higher than AD group, which was consistent with the theory. Additionally, the number of AFC, retrieved eggs, mature eggs, fertilized eggs, cleaved embryos, blastocysts, and biopsied embryos in dominant genetic diseases are all higher than those in recessive genetic diseases (all P < 0.05). We speculated that the main reason was that the couples with dominant genetic diseases consulted for PGT at a significantly younger age than those with recessive genetic diseases (29.83 ± 3.43 vs 32.58 ± 4.16, P < 0.05), because they were aware of their genetic condition at an earlier age. Furthermore, the present study showed that PGT-A result (euploid, aneuploid, and mosaic) showed no significant differences among different genetic categories and between affected and unaffected embryos, which has not been elaborated upon in other studies. Our results are valuable for couples counseling for PGT-M. In general, 8.72% of the retrieved oocytes and 24.59% of the biopsied embryos were diagnosed as transferable embryos, with no significant difference observed across age groups. On average, 1 transferable embryo can be obtained from every 11.47 eggs retrieved. For all couples, when there is one transferable embryo, the chance of a patient delivering a healthy baby was 52.27% (25% for women over 35y). With two, the chance increased to 87.50% (50% for women over 35y). For three transferable embryos, the chance was 90.91% (100% for women over 35y, n = 3). With five or more embryos, the chance was 100% (no women over 35y) (Fig. 5 ). However, the sample size of patients with five or more transferable embryos was too small (8 patients, 8 OR cycles), so a 100% chance was not statistically reliable. For PGT-M patients, between 10 and 20 retrieved oocytes may be the optimal number. The main limitations was that this study was based on retrospective data from a single center, and the sample size is small, especially the number of patients in the XLD genetic group and those over 38 years old. In addition, none of the mosaic embryos were included in our pool of transferable embryos. In clinical practice, embryos with mosaicism less than 40% can also be considered for transfer in the absence of euploid embryos. Further analysis of data from a larger cohort of PGT-M patients is needed to determine the factors influencing the CLBR of PGT-M. Conclusions In summary, PGT-M is an effective method to increase the CLBR of healthy babies for couples with monogenic disorders. Our results showed the CLBR per patient of PGT-M is significantly correlated with female age, OPU times, number of oocytes retrieved, and number of transferable embryos, which can provide a basis for PGT-M counselling. Furthermore, our research innovatively suggested that the aneuploidy of embryos is not related to the genetic category of monogenic diseases and whether the embryo is affected or not. Declarations Ethics approval and consent to participate This study was approved by the Reproductive Medicine Ethics Committee of the First Affiliated Hospital of Anhui Medical University (Approval No. 2017002). A written informed consent for the PGT treatment was obtained from all couples. Consent for publication Not applicable. Availability of data and materials The dataset supporting the conclusions of this article is included within the article (and its additional file). Competing interests The authors declare that they have no competing interests. Funding This work was supported by grants from Anhui Medical University Research (2023xkj135) Authors’ contributions N.W., D.C., Y.H. and Z.W. designed the study and interpreted the results. N.W. performed data analysis and wrote the article. Q.Z., D.K., Y.Y. and X.S. contributed to data collection and interpreted the results. Z.Z., P.Z., Y.H. and Y.C. revised the article. All authors read and approved the final manuscript. Acknowledgements Not applicable. References Yang R, Niu ZR, Chen LX, Liu P, Li R, Qiao J. Analysis of related factors affecting cumulative live birth rates of the first ovarian hyperstimulation in vitro fertilization or intracytoplasmic sperm injection cycle: a population-based study from 17,978 women in China. Chin Med J (Engl). 2021;134(12):1405–15. Centers for Disease Control and Prevention. 2021 Assisted Reproductive Technology Fertility Clinic and National Summary Report. US Dept of Health and Human Services; 2023. Centers for Disease Control and Prevention. 2020 Assisted Reproductive Technology Fertility Clinic and National Summary Report. US Dept of Health and Human Services; 2022. Wang YY, Li R, Yang R, Zheng D, Zeng L, Lian Y, et al. Intracytoplasmic sperm injection versus conventional in-vitro fertilisation for couples with infertility with non-severe male factor: a multicentre, open-label, randomised controlled trial. Lancet. 2024;10430:924–34. Lv H, Li X, Du J, Ling X, Diao F, Lu Q, et al. Effect of endometrial thickness and embryo quality on live-birth rate of fresh IVF/ICSI cycles: a retrospective cohort study. Reprod Biol Endocrinol. 2020;1:89. Wu CH, Lee TH, Chen HH, Chen CI, Huang CC, Lee MS. The influence of female age on the cumulative live-birth rate of fresh cycles and subsequent frozen cycles using vitrified blastocysts in hyper-responders. TJOG. 2015;5:567–71. Kasaven LS, Marcus D, Theodorou E, Jones BP, Saso S, Naja R, et al. Systematic review and meta-analysis: does pre-implantation genetic testing for aneuploidy at the blastocyst stage improve live birth rate? J Assist Reprod Genet. 2023;10:2297–316. McPherson NO, Zander-Fox D, Vincent AD, Lane M. Combined advanced parental age has an additive negative effect on live birth rates-data from 4057 first IVF/ICSI cycles. J Assist Reprod Genet. 2018;2:279–87. Huang Y, Li J, Zhang F, Liu Y, Xu G, Guo J, et al. Factors affecting the live-birth rate in women with diminished ovarian reserve undergoing IVF-ET. Arch Gynecol Obstet. 2018;5:1017–27. Jansen RPS. The effect of female age on the likelihood of a live birth from one in-vitro fertilisation treatment. Med J Aust. 2003;6:258–61. Gu F, Ruan S, Luo C, Huang Y, Luo L, Xu Y, et al. Can repeat IVF/ICSI cycles compensate for the natural decline in fertility with age? an estimate of cumulative live birth rates over multiple IVF/ICSI cycles in Chinese advanced-aged population. Aging. 2021;10:14385–98. Havrljenko J, Kopitovic V, Pjevic AT, Milatovic S, Pavlica T, Andric N, et al. The Prediction of IVF Outcomes with Autologous Oocytes and the Optimal MII Oocyte/Embryo Number for Live Birth at Advanced Maternal Age. Medicina. 2023;10:1799. Scheffer JB, Scheffer BB, de Carvalho RF, Rodrigues J, Grynberg M, Mendez Lozano DH. Age as A Predictor of Embryo Quality Regardless of The Quantitative Ovarian Response. Int J Fertil Steril. 2017;1:40–6. Awadalla M, Kim A, Vestal N, Ho J, Bendikson K. Effect of Age and Embryo Morphology on Live Birth Rate After Transfer of Unbiopsied Blastocysts. JBRA Assist Reprod. 2021;3:373–82. Hoyos LR, Cheng CY, Brennan K, Hubert G, Wang B, Buyalos RP, et al. Euploid rates among oocyte donors: is there an optimal age for donation? J Assist Reprod Genet. 2020;3:589–94. Irani M, Zaninovic N, Rosenwaks Z, Xu K. Does maternal age at retrieval influence the implantation potential of euploid blastocysts? Am J Obstet Gynecol. 2019;4:379.e1-379.e7. La Marca A, Minasi MG, Sighinolfi G, Greco P, Argento C, Grisendi V, et al. Female age, serum antimüllerian hormone level, and number of oocytes affect the rate and number of euploid blastocysts in in vitro fertilization/intracytoplasmic sperm injection cycles. Fertil Steril. 2017;5:777–e7832. Demko ZP, Simon AL, McCoy RC, Petrov DA, Rabinowitz M. Effects of maternal age on euploidy rates in a large cohort of embryos analyzed with 24-chromosome single-nucleotide polymorphism-based preimplantation genetic screening. Fertil Steril. 2016;5:1307–13. Jingjuan J, Yusheng L, Xianhong T, Lihua L, Jinlong M, Zijiang C. The optimum number of oocytes in IVF treatment: an analysis of 2455 cycles in China. Hum Reprod. 2013;10:2728–34. Van Der Kelen A, Santos-Ribeiro S, De Vos A, Verdyck P, De Rycke M, Berckmoes V, et al. Parameters of poor prognosis in preimplantation genetic testing for monogenic disorders. Hum Reprod. 2021;9:2558–66. Malchau SS, Henningsen AA, Forman J, Loft A, Nyboe Andersen A, Pinborg A. Cumulative live birth rate prognosis based on the number of aspirated oocytes in previous ART cycles. Hum Reprod. 2019;1:171–80. Additional Declarations No competing interests reported. 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. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board 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-4450499","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":310182371,"identity":"53ed06aa-deae-4dd8-ba64-aadef8e78766","order_by":0,"name":"Ning Wang","email":"","orcid":"","institution":"First Affiliated Hospital of Anhui Medical University","correspondingAuthor":false,"prefix":"","firstName":"Ning","middleName":"","lastName":"Wang","suffix":""},{"id":310182372,"identity":"847caa88-53fb-42f0-8b43-28e7aa0fd33a","order_by":1,"name":"Dawei Chen","email":"","orcid":"","institution":"First Affiliated Hospital of Anhui Medical University","correspondingAuthor":false,"prefix":"","firstName":"Dawei","middleName":"","lastName":"Chen","suffix":""},{"id":310182373,"identity":"3b3be8b4-3b66-485b-85f5-7d81e0329985","order_by":2,"name":"Qing Zhang","email":"","orcid":"","institution":"First Affiliated Hospital of Anhui Medical University","correspondingAuthor":false,"prefix":"","firstName":"Qing","middleName":"","lastName":"Zhang","suffix":""},{"id":310182374,"identity":"f3e5342c-3917-43ce-80a3-35ba896fcf02","order_by":3,"name":"Dan Kuang","email":"","orcid":"","institution":"First Affiliated Hospital of Anhui Medical University","correspondingAuthor":false,"prefix":"","firstName":"Dan","middleName":"","lastName":"Kuang","suffix":""},{"id":310182375,"identity":"275e60d3-dc15-4b05-bb3a-5c3ef750476e","order_by":4,"name":"Yiqi 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University","correspondingAuthor":false,"prefix":"","firstName":"Zhiguo","middleName":"","lastName":"Zhang","suffix":""},{"id":310182379,"identity":"66190d53-662d-4f92-9f4c-3d5ce6ee8c74","order_by":8,"name":"Ping Zhou","email":"","orcid":"","institution":"First Affiliated Hospital of Anhui Medical University","correspondingAuthor":false,"prefix":"","firstName":"Ping","middleName":"","lastName":"Zhou","suffix":""},{"id":310182380,"identity":"261eefed-fc60-4538-be65-4298bb31e2e7","order_by":9,"name":"Yunxia Cao","email":"","orcid":"","institution":"First Affiliated Hospital of Anhui Medical University","correspondingAuthor":false,"prefix":"","firstName":"Yunxia","middleName":"","lastName":"Cao","suffix":""},{"id":310182381,"identity":"b4be1e4d-3cd5-4a82-adf9-cd3a3e49cb02","order_by":10,"name":"Yan Hao","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA4klEQVRIie3QMWsCMRTA8RwHb0p0kxxKrx/hya1+mLs9dr7Ng0pc+gEURb+Co+MLB7pEXIUuha43HLgK7XXs0mQsmN/0Au8/vDAWBP8UteXXE6Q1dYNfEZmljbOehKIb/JK4FjoutpJntZh77OPpTDW3EOnhW0uiYml/QI7EvuRmU/IYRuc9JQc2Xq1zR0IKqbESgE33NLYsx3dXcmmQhEYOTH1QoX2Sq0IjdC5BKkbGJ0muDXZ/Swj8iKay0n1L76Kyti1ptlu8ft7u5STtDx3JM/1+y7/Xf6SVeycIguDRfQNEmVD+IMD1HQAAAABJRU5ErkJggg==","orcid":"","institution":"First Affiliated Hospital of Anhui Medical University","correspondingAuthor":true,"prefix":"","firstName":"Yan","middleName":"","lastName":"Hao","suffix":""}],"badges":[],"createdAt":"2024-05-20 17:32:57","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-4450499/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-4450499/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":57942513,"identity":"366f93be-1704-49d3-b878-56192fef2d30","added_by":"auto","created_at":"2024-06-07 19:01:12","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":21518,"visible":true,"origin":"","legend":"\u003cp\u003eProportion of patients in various systems or organs, the total number of patients=160\u003c/p\u003e","description":"","filename":"Onlinefloatimage1.png","url":"https://assets-eu.researchsquare.com/files/rs-4450499/v1/9c61897b17c920a902746fa5.png"},{"id":57942518,"identity":"2c9193e3-a6bc-42dd-bee5-510f5925816c","added_by":"auto","created_at":"2024-06-07 19:01:15","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":153706,"visible":true,"origin":"","legend":"\u003cp\u003ePGT results of embryos. (\u003cstrong\u003eA\u003c/strong\u003e) PGT-M results of embryos according to genetic category. No-results for PGT-M refers to embryos undergoing PGT-M but could not be diagnosed. Due to a few embryos undergoing PGT-A before PGT-M, among which the aneuploid embryos did not undergo PGT-M, the number of embryos with PGT-M results (1091) is slightly less than the total number of biopsied embryos (1106). (\u003cstrong\u003eB\u003c/strong\u003e) PGT-A results of embryos according to genetic category. No-results for PGT-A refers to embryos undergoing PGT-A but could not be diagnosed. Due to the fact that all pathogenic embryos did not undergo PGT-A, the number of embryos with PGT-A results is only 673. (\u003cstrong\u003eC\u003c/strong\u003e) PGT-A results of embryos according to unaffected (including no-risk haplotype and carrier according to genetic category) and affected.\u003c/p\u003e","description":"","filename":"Onlinefloatimage2.png","url":"https://assets-eu.researchsquare.com/files/rs-4450499/v1/3e4066911cb12993e53a7674.png"},{"id":57942657,"identity":"d4a06b82-9a31-4c32-97f3-56fdac45b169","added_by":"auto","created_at":"2024-06-07 19:01:25","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":116049,"visible":true,"origin":"","legend":"\u003cp\u003eThe forest plot of logistic multivariate regression analysis results for factors influencing CLBRper patient. BMI was excluded after univariate logistic regression analysis. Abnormal sperm diagnosis refered to varying degrees of oligospermia or asthenospermia or azoospermia.\u003c/p\u003e","description":"","filename":"Onlinefloatimage3.png","url":"https://assets-eu.researchsquare.com/files/rs-4450499/v1/61bd0897e1ffec59da3e8893.png"},{"id":57942517,"identity":"3409ac01-2f75-46bb-b601-cd9ac84525d0","added_by":"auto","created_at":"2024-06-07 19:01:14","extension":"png","order_by":4,"title":"Figure 4","display":"","copyAsset":false,"role":"figure","size":91087,"visible":true,"origin":"","legend":"\u003cp\u003eThe impact of female age on CLBR, number of oocytes retrieved, euploidy rate/transferable rate, and number of euploid embryos/transferable embryos. (A) CLBR（in%) of PGT-M at different female ages(in years). (B) Number of oocytes retrieved at different female ages. (C) euploidy rate/transferable rate per biopsied embryo(%) at different ages. (D) Number of euploidy embryos/transferable embryos at different ages. The sample sizes for the ages of 22y (n=1), 38y (n=3), 41y (n=2) and 42y (n=1) are too small to be considered and can be ignored.\u003c/p\u003e","description":"","filename":"Onlinefloatimage4.png","url":"https://assets-eu.researchsquare.com/files/rs-4450499/v1/11b43c516e3a534037ee0d23.png"},{"id":57942514,"identity":"fbba6071-72eb-45ce-bce2-389655c9ede2","added_by":"auto","created_at":"2024-06-07 19:01:14","extension":"png","order_by":5,"title":"Figure 5","display":"","copyAsset":false,"role":"figure","size":48425,"visible":true,"origin":"","legend":"\u003cp\u003eCLBR per OR cycle and CLBR per patient as a function of the number of transferable embryos. CLBR per OR cycle: R\u003csup\u003e2\u003c/sup\u003e=0.799, P=0.007; CLBR per patient: R\u003csup\u003e2\u003c/sup\u003e=0.727, P=0.015. Mosaic embryo refers to patient/ OR cycle without euploid and unaffected embryos, but with mosaic and unaffected embryos of which the mosaic proportion \u0026lt;40%.\u003c/p\u003e","description":"","filename":"Onlinefloatimage5.png","url":"https://assets-eu.researchsquare.com/files/rs-4450499/v1/154184b905315210752da31c.png"},{"id":58124736,"identity":"7d72d763-2fbe-4614-8385-280c3fee8f49","added_by":"auto","created_at":"2024-06-11 12:59:26","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1338064,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-4450499/v1/cdb4e9be-5cb5-449b-81b2-eee1d9b864d6.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Factors influencing the reproductive outcome of preimplantation genetic testing for monogenic disorders: a single-center retrospective cohort study","fulltext":[{"header":"Introduction","content":"\u003cp\u003ePreimplantation genetic testing for monogenic diseases (PGT-M) is a powerful tool to block the vertical transmission of monogenic disorders within a family.\u0026nbsp;Cumulative live birth rate (CLBR) per oocyte retrieved (OR) cycle and per patient are both recommended as measures of success rate for assisted reproductive technology (ART). In clinical practice, patients may ask \u0026ldquo;What are my chances of ultimately achieving a live birth through PGT-M?\u0026rdquo; CLBR per patient refers to the probability of achieving a live birth over a series of ART treatment cycles for an individual patient, until the patient either discontinues treatment or achieves a successful birth.\u003c/p\u003e\n\u003cp\u003eA study has shown women\u0026apos;s age, BMI, duration of infertility years, infertility factors,\u0026nbsp;controlled ovarian hyperstimulation (COH)\u0026nbsp;protocol, number of retrieved oocytes, and number of transferable embryos are the prognosis factors that significantly affected the CLBR of ART (IVF and ICSI)\u003csup\u003e[1]\u003c/sup\u003e. However, relatively few studies were dedicated to exploring the factors affecting CLBR in PGT-M. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eThe principle purpose of this study was to determine the factors influencing the CLBR of PGT-M couples. Moreover, we also aimed to further investigate the impact of female age on the embryo quantity and quality of PGT-M, as well as the influence of genetic categories and disease status (whether affected or not) on embryo aneuploidy.\u003c/p\u003e"},{"header":"Materials and Methods","content":"\u003cdiv id=\"Sec2\" class=\"Section2\"\u003e \u003ch2\u003ePatient population\u003c/h2\u003e \u003cp\u003eThis is a retrospective cohort study including all consecutive couples who underwent PGT-M at the Reproductive Medicine Center of the First Affiliated Hospital of Anhui Medical University from January 2017 to December 2023. Each patient received a combined diagnosis of PGT-M and preimplantation genetic testing for aneuploidy (PGT-A), and all underwent frozen-thawed single embryo transfer. Cycles involving oocyte donation, sperm donation, or natural cycle protocol were excluded from the analysis. Patients were divided into four groups based on genetic categories to assess baseline characteristics, in vitro fertilization data, PGT data, and reproductive outcomes. The primary outcome was CLBR per OR cycle and CLBR per patient.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eICSI, embryo biopsy, genetic test and embryo transfer\u003c/h2\u003e \u003cp\u003eBefore the first PGT cycle, peripheral blood DNA was extracted from the proband and both members of the couples to construct single nucleotide polymorphism (SNP) haplotypes on both sides of the mutation. After ovulation induction with COH protocol, ICSI was performed. The fertilized eggs were cultured until day 5 or 6, and approximately 5\u0026ndash;10 trophectoderm cells were biopsied under laser assistance when blastocysts formed. Vitrification was performed on all biopsied blastocysts. SNP linkage analysis based on NGS was performed to identify the risk haplotype, and sanger sequencing was conducted to verify the results of haplotype analysis. Additionally, copy number variation (CNV) analysis was performed for low-depth PGT-A. A high-quality, unaffected and euploid embryo was selected for FET.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec4\" class=\"Section2\"\u003e \u003ch2\u003eStatistics\u003c/h2\u003e \u003cp\u003eTo compare the differences among four genetic categories, continuous data were compared by One-way ANOVA or Kruskal-Wallis H-test, and categorical variables were compared by chi-square test. A multivariate logistic regression was performed to explore the following factors that may influence CLBR per patient of PGT-M: female age, female BMI, oocytes pick up (OPU) times, genetic category, COH protocol, number of oocytes retrieved, sperm diagnosis, pathogenic gene source, and dosage of gonadotrophins (Gn). An additional model was also performed, replacing number of oocytes retrieved with number of transferable embryos to avoid collinearity. Mann-Whitney U test and Pearson correlation analysis was conducted between female age and number of oocytes retrieved, number of euploid embryos, number of transferable embryos, euploidy rate, and transferable rate, respectively. Curve fitting was performed between the number of transferable embryos and CLBR per OR cycle. All statistical analyses were performed using SPSS version 27.0 (IBM Corp. Armonk, NY, USA).\u003c/p\u003e \u003c/div\u003e"},{"header":"Results","content":"\u003cdiv id=\"Sec6\" class=\"Section2\"\u003e \u003ch2\u003eBaseline characteristics\u003c/h2\u003e \u003cp\u003eBetween January 2017 and December 2023, 160 patients received PGT treatment in our center, which consisted of 68 (37.5%) couples with autosomal dominant (AD) genetic diseases, 4 (2.5%) with X-linked dominant (XLD) genetic diseases, 60 (37.5%) with autosomal recessive (AR) genetic diseases, and 28 (17.5%) with X-linked recessive (XLR) genetic diseases. These patients suffered from 86 types of monogenic diseases, involving multiple organs and systems, including 10 types of multisystem diseases, 19 types of musculoskeletal system diseases, 11 types of neurological system diseases, 5 types of hematologic system diseases, 15 types of metabolic diseases, 6 types of endocrine diseases, 2 types of immune system diseases, 5 types of urinary system diseases, 2 types of skin diseases, and 11 types of eye or ear diseases (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e). The most common disease was autosomal dominant polycystic kidney disease (ADPKD), with 34 patients affected, out of which 24 are male. 22 male ADPKD patients suffered from varying degrees of oligoasthenoteratozoospermia, which led to a significantly lower sperm motility in AD group. Female age in AD (29.94\u0026thinsp;\u0026plusmn;\u0026thinsp;3.45y) and XLD (28\u0026thinsp;\u0026plusmn;\u0026thinsp;2.83y) group were lower than that in AR (32.28\u0026thinsp;\u0026plusmn;\u0026thinsp;4.37y) and XLR (33.21\u0026thinsp;\u0026plusmn;\u0026thinsp;3.68y) group (P\u0026thinsp;\u0026lt;\u0026thinsp;0.05). Additionally, compared to AR and XLR groups, the AD group had a higher number of antral follicles and required a lower dosage of gonadotropins (both P\u0026thinsp;\u0026lt;\u0026thinsp;0.05) (Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eBaseline characteristics of patients according to genetic category\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"6\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eAD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eXLD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c5\"\u003e \u003cp\u003eXLR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c6\"\u003e \u003cp\u003eTotal\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of couples (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e68(42.5%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4(2.5%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e60(37.5%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e28(17.5%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e160\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFemale age (years\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e29.94\u0026thinsp;\u0026plusmn;\u0026thinsp;3.45\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e28\u0026thinsp;\u0026plusmn;\u0026thinsp;2.83\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e32.28\u0026thinsp;\u0026plusmn;\u0026thinsp;4.37\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e33.21\u0026thinsp;\u0026plusmn;\u0026thinsp;3.68\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e31.34\u0026thinsp;\u0026plusmn;\u0026thinsp;4.07\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMale age (years\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e31.43\u0026thinsp;\u0026plusmn;\u0026thinsp;3.67\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e30.75\u0026thinsp;\u0026plusmn;\u0026thinsp;3.1\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e33.07\u0026thinsp;\u0026plusmn;\u0026thinsp;4.87\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e34.39\u0026thinsp;\u0026plusmn;\u0026thinsp;3.52\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e32.54\u0026thinsp;\u0026plusmn;\u0026thinsp;4.25\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of cycles to OR (mean/patient\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e88(1.29\u0026thinsp;\u0026plusmn;\u0026thinsp;0.49)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5(1.25\u0026thinsp;\u0026plusmn;\u0026thinsp;0.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e78(1.3\u0026thinsp;\u0026plusmn;\u0026thinsp;0.56)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e37(1.32\u0026thinsp;\u0026plusmn;\u0026thinsp;0.55)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e208(1.3\u0026thinsp;\u0026plusmn;\u0026thinsp;0.52)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eBMI (kg/㎡) (mean/patient\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e22.61\u0026thinsp;\u0026plusmn;\u0026thinsp;6.23\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e23.53\u0026thinsp;\u0026plusmn;\u0026thinsp;4.92\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e21.96\u0026thinsp;\u0026plusmn;\u0026thinsp;2.41\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e22.46\u0026thinsp;\u0026plusmn;\u0026thinsp;3.04\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e22.34\u0026thinsp;\u0026plusmn;\u0026thinsp;4.53\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFSH (mIU/ml) (mean/patient\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e6.88\u0026thinsp;\u0026plusmn;\u0026thinsp;2.03\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6.72\u0026thinsp;\u0026plusmn;\u0026thinsp;1.07\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e8.25\u0026thinsp;\u0026plusmn;\u0026thinsp;3.41\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e7.21\u0026thinsp;\u0026plusmn;\u0026thinsp;2.68\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e7.46\u0026thinsp;\u0026plusmn;\u0026thinsp;2.76\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAFC\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1172(17.24\u0026thinsp;\u0026plusmn;\u0026thinsp;6.07)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e58(14.5\u0026thinsp;\u0026plusmn;\u0026thinsp;6.35)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e801(13.35\u0026thinsp;\u0026plusmn;\u0026thinsp;6.19)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e369(13.18\u0026thinsp;\u0026plusmn;\u0026thinsp;6.16)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e2400(15\u0026thinsp;\u0026plusmn;\u0026thinsp;6.38)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSperm concentration (10/mL) (mean/patient\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e69.3\u0026thinsp;\u0026plusmn;\u0026thinsp;71.32\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e34.8\u0026thinsp;\u0026plusmn;\u0026thinsp;29.58\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e86.68\u0026thinsp;\u0026plusmn;\u0026thinsp;84.68\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e85.41\u0026thinsp;\u0026plusmn;\u0026thinsp;69.08\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e77.83\u0026thinsp;\u0026plusmn;\u0026thinsp;75.84\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSperm motility %(PR, mean/patient\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e29.13\u0026thinsp;\u0026plusmn;\u0026thinsp;21.48\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e34.55\u0026thinsp;\u0026plusmn;\u0026thinsp;26.79\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e46.73\u0026thinsp;\u0026plusmn;\u0026thinsp;24.71\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e46.67\u0026thinsp;\u0026plusmn;\u0026thinsp;17.69\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e39\u0026thinsp;\u0026plusmn;\u0026thinsp;23.73\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eGn days\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e10.52\u0026thinsp;\u0026plusmn;\u0026thinsp;2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e10.2\u0026thinsp;\u0026plusmn;\u0026thinsp;1.48\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e10.51\u0026thinsp;\u0026plusmn;\u0026thinsp;2.47\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e10.54\u0026thinsp;\u0026plusmn;\u0026thinsp;2.02\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e10.51\u0026thinsp;\u0026plusmn;\u0026thinsp;2.17\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eGn dose\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e2184.52\u0026thinsp;\u0026plusmn;\u0026thinsp;834\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2760\u0026thinsp;\u0026plusmn;\u0026thinsp;1246.95\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e2510.8\u0026thinsp;\u0026plusmn;\u0026thinsp;973.92\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e2489.86\u0026thinsp;\u0026plusmn;\u0026thinsp;880.3\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e2375.02\u0026thinsp;\u0026plusmn;\u0026thinsp;915.59\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eOR\u0026thinsp;=\u0026thinsp;oocyte retrieval; AFC\u0026thinsp;=\u0026thinsp;antral follicle count; Gn\u0026thinsp;=\u0026thinsp;gonadotropin. Age refered to the age at which the couple first undergoes egg retrieval. Data in the same column labeled with the same letter indicated non-significant differences (P\u0026thinsp;\u0026gt;\u0026thinsp;0.05), while different letters indicate significant differences (P\u0026thinsp;\u0026lt;\u0026thinsp;0.05).\u003c/p\u003e \u003cp\u003e \u003cb\u003eIn vitro fertilization data\u003c/b\u003e \u003c/p\u003e \u003cp\u003e160 patients underwent 208 oocyte retrieval cycles, with an average of 1.3 cycles per patient. The number of retrieved eggs, fertilized eggs, cleaved eggs, and blastocysts in the AD group were significantly higher than AR and XLR groups (all P\u0026thinsp;\u0026lt;\u0026thinsp;0.05), which might be due to the younger female age in AD group. However, there were no significant differences in fertilization rate, cleavage rate, and blastocyst formation rate among different genetic categories and different age groups (Table\u0026nbsp;\u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eIn vitro fertilization data of patients according to genetic category\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"6\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eAD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eXLD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c5\"\u003e \u003cp\u003eXLR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c6\"\u003e \u003cp\u003eTotal\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of couples\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e68\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e60\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e28\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e160\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of cycles to OR (mean/patient\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e88(1.29\u0026thinsp;\u0026plusmn;\u0026thinsp;0.49)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5(1.25\u0026thinsp;\u0026plusmn;\u0026thinsp;0.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e78(1.3\u0026thinsp;\u0026plusmn;\u0026thinsp;0.56)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e37(1.32\u0026thinsp;\u0026plusmn;\u0026thinsp;0.55)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e208(1.3\u0026thinsp;\u0026plusmn;\u0026thinsp;0.52)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of oocytes retrieved (mean/OR\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1564(17.77\u0026thinsp;\u0026plusmn;\u0026thinsp;9.48)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e71(14.2\u0026thinsp;\u0026plusmn;\u0026thinsp;7.53)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1036(13.28\u0026thinsp;\u0026plusmn;\u0026thinsp;9.01)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e449(12.14\u0026thinsp;\u0026plusmn;\u0026thinsp;7.69)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e3120(15\u0026thinsp;\u0026plusmn;\u0026thinsp;9.23)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of mature oocytes (mean/OR\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1240(14.09\u0026thinsp;\u0026plusmn;\u0026thinsp;8.15)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e55(11\u0026thinsp;\u0026plusmn;\u0026thinsp;4.64)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e846(10.85\u0026thinsp;\u0026plusmn;\u0026thinsp;7.92)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e356(9.62\u0026thinsp;\u0026plusmn;\u0026thinsp;5.68)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e2479(12\u0026thinsp;\u0026plusmn;\u0026thinsp;7.79)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMaturity rate (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e79.28%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e77.46%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e81.66%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e79.29%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e80.03%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of oocytes fertilized (mean/OR\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1071(12.17\u0026thinsp;\u0026plusmn;\u0026thinsp;7.51)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e46(9.2\u0026thinsp;\u0026plusmn;\u0026thinsp;3.27)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e747(9.58\u0026thinsp;\u0026plusmn;\u0026thinsp;7.12)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e304(8.22\u0026thinsp;\u0026plusmn;\u0026thinsp;5.41)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e2168(10.42\u0026thinsp;\u0026plusmn;\u0026thinsp;7.09)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFertilization rate (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e86.37%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e83.64%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e88.30%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e85.39%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e86.82%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of oocytes cleavaged (mean/OR\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1054(11.98\u0026thinsp;\u0026plusmn;\u0026thinsp;7.35)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e43(8.6\u0026thinsp;\u0026plusmn;\u0026thinsp;3.71)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e739(9.47\u0026thinsp;\u0026plusmn;\u0026thinsp;7.03)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e300(8.11\u0026thinsp;\u0026plusmn;\u0026thinsp;5.18)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e2136(10.27\u0026thinsp;\u0026plusmn;\u0026thinsp;6.96)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eCleavage rate (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e98.41%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e93.48%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e98.93%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e98.68%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e98.52%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of blastocyst (mean/OR\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e597(6.78\u0026thinsp;\u0026plusmn;\u0026thinsp;4.9)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e28(5.6\u0026thinsp;\u0026plusmn;\u0026thinsp;4.16)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e386(4.95\u0026thinsp;\u0026plusmn;\u0026thinsp;4.64)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e173(4.68\u0026thinsp;\u0026plusmn;\u0026thinsp;4.43)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e1184(5.69\u0026thinsp;\u0026plusmn;\u0026thinsp;4.77)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eBlastocyst rate (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e56.64%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e65.12%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e52.23%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e57.67%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e55.43%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eData in the same column labeled with the same letter indicated non-significant differences (P\u0026thinsp;\u0026gt;\u0026thinsp;0.05), while different letters indicated significant differences (P\u0026thinsp;\u0026lt;\u0026thinsp;0.05).\u003c/p\u003e \u003c/div\u003e\n\u003ch3\u003ePGT data analysis\u003c/h3\u003e\n\u003cp\u003e160 patients underwent 193 PGT cycles, with an average of 1.21 cycles per patient. All patients selected the PGT-M combined with PGT-A. The numbers of biopsied embryos and clearly diagnosed embryos in the AD group were significantly higher than in the AR and XLR groups, following the same trend as the number of retrieved oocytes (all P\u0026thinsp;\u0026lt;\u0026thinsp;0.05). However, there was no significant difference in the diagnostic rate. A transferable embryo was defined as a high-quality, euploid and unaffected (including no-risk haplotype and carrier) embryo. Overall, the transferable rate was 24.59% (per biopsied embryo) and 8.72% (per retrieved oocyte). Both rates were significantly lower in AD group than AR group (both P\u0026thinsp;\u0026lt;\u0026thinsp;0.05), which is consistent with theoretical expectations (Table\u0026nbsp;\u003cspan refid=\"Tab3\" class=\"InternalRef\"\u003e3\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe XLD group had the highest frequency of no-risk haplotype at 47%, followed by the AD group at 45%, the XLR group at 43%, and the AR group at 23% (AD vs AR, P\u0026thinsp;\u0026lt;\u0026thinsp;0.001; AD vs XLR, XLD vs AR, XLR vs AR, P\u0026thinsp;\u0026lt;\u0026thinsp;0.05). The carrier frequency in the AR group was significantly higher than XLR group (43% vs 15%, P\u0026thinsp;\u0026lt;\u0026thinsp;0.001). The pathogenic embryo frequencies were 46% in AD group, 47% in XLD group, 26% in AR group, and 35% in XLR group (AD vs AR, AD vs XLR, P\u0026thinsp;\u0026lt;\u0026thinsp;0.001; XLD vs AR, P\u0026thinsp;\u0026lt;\u0026thinsp;0.05). After excluding embryos without definite diagnosis, the actual distribution frequencies of normal, carrier, and pathogenic embryos in the AD, XLD, and AR groups roughly matched the theoretical values. However, the actual distribution frequencies for the XLR group were 46% normal, 16% carrier and 38% pathogenic, which do not align with the theoretical values. This discrepancy may be due to the small sample size.\u003c/p\u003e \u003cp\u003eThere was no significant difference in PGT-A results (euploid, aneuploid and mosaic) among the four genetic categories. Similarly, there was no difference in PGT-A results between affected and unaffected embryos (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe combined diagnostic results of PGT-A and PGT-M are presented in Table\u0026nbsp;\u003cspan refid=\"Tab4\" class=\"InternalRef\"\u003e4\u003c/span\u003e.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab3\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 3\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003ePGT data of patients according to genetic category\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"6\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eAD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eXLD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c5\"\u003e \u003cp\u003eXLR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c6\"\u003e \u003cp\u003eTotal\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of couples\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e68\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e60\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e28\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e160\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of cycles to OR (mean/patient\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e88(1.29\u0026thinsp;\u0026plusmn;\u0026thinsp;0.49)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5(1.25\u0026thinsp;\u0026plusmn;\u0026thinsp;0.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e78(1.3\u0026thinsp;\u0026plusmn;\u0026thinsp;0.56)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e37(1.32\u0026thinsp;\u0026plusmn;\u0026thinsp;0.55)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e208(1.3\u0026thinsp;\u0026plusmn;\u0026thinsp;0.52)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of cycles to PGT (mean/patient\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e87(1.28\u0026thinsp;\u0026plusmn;\u0026thinsp;0.51)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5(1.25\u0026thinsp;\u0026plusmn;\u0026thinsp;0.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e67(1.12\u0026thinsp;\u0026plusmn;\u0026thinsp;0.52)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e34(1.21\u0026thinsp;\u0026plusmn;\u0026thinsp;0.63)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e193(1.21\u0026thinsp;\u0026plusmn;\u0026thinsp;0.54)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of embryos biopsied (mean/PGT\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e554(6.52\u0026thinsp;\u0026plusmn;\u0026thinsp;3.89)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e30(6\u0026thinsp;\u0026plusmn;\u0026thinsp;3.94)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e351(5.24\u0026thinsp;\u0026plusmn;\u0026thinsp;3.55)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e171(4.89\u0026thinsp;\u0026plusmn;\u0026thinsp;4.42)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e1106(5.76\u0026thinsp;\u0026plusmn;\u0026thinsp;3.91)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of embryos clearly diagnosed (mean/PGT\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e499(5.87\u0026thinsp;\u0026plusmn;\u0026thinsp;3.55)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e28(5.6\u0026thinsp;\u0026plusmn;\u0026thinsp;3.05)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e318(4.75\u0026thinsp;\u0026plusmn;\u0026thinsp;3.16)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e156(4.46\u0026thinsp;\u0026plusmn;\u0026thinsp;3.85)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e1011(5.24\u0026thinsp;\u0026plusmn;\u0026thinsp;3.51)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eDiagnostic rate (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e90.07%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e93.33%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e90.60%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e91.23%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e91.41%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of transferable embryos (mean/PGT\u0026thinsp;\u0026plusmn;\u0026thinsp;SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e114(1.34\u0026thinsp;\u0026plusmn;\u0026thinsp;1.35)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e9(2.2\u0026thinsp;\u0026plusmn;\u0026thinsp;1.79)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e108(1.61\u0026thinsp;\u0026plusmn;\u0026thinsp;1.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e41(1.17\u0026thinsp;\u0026plusmn;\u0026thinsp;1.76)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e272(1.42\u0026thinsp;\u0026plusmn;\u0026thinsp;1.48)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTransferrable rate (% per embryo biopsied)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e20.58%\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e30.00%\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e30.77%\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e23.98%\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e24.59%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTransferrable rate (% per oocyte retrived)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e7.29%\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e12.68%\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e10.42%\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e9.13%\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e8.72%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003ePGT\u0026thinsp;=\u0026thinsp;preimplantation genetic testing. Data in the same column labeled with the same letter indicated non-significant differences (P\u0026thinsp;\u0026gt;\u0026thinsp;0.05), while different letters indicated significant differences (P\u0026thinsp;\u0026lt;\u0026thinsp;0.05).\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab4\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 4\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003ePGT-M and PGT-A results of embryos according to genetic category\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"6\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eAD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eXLD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c5\"\u003e \u003cp\u003eXLR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c6\"\u003e \u003cp\u003eTotal\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnaffected \u0026 euploid\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e114(23.36%)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e9(32.14%)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e107(33.97%)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e41(26.97%)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e271(27.57%)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnaffected \u0026 aneuploid\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e79(16.19%)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2(7.14%)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e76(24.13%)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e37(24.34%)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e194(19.74%)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnaffected \u0026 mosaism\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e45(9.22%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e3(10.71%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e41(13.02%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e15(9.87%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e104(10.58%)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAffected \u0026 PGT-A not done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e210(43.03%)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e9(32.14%)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e84(26.67%)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e49(32.24%)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e352(35.81%)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAffected \u0026 euploid\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e16(3.28%)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4(14.29%)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e4(1.27%)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e2(1.32%)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e26(2.64%)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAffected \u0026 aneuploid\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e19(3.89%)\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0(0.00%)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e2(0.63%)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e6(3.95%)\u003csup\u003eab\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e27(2.75%)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAffected \u0026 mosaic\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e5(1.02%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1(3.57%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1(0.32%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e2(1.32%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e9(0.92%)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTotal\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e488(100%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e28(100%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e315(100%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e152(100%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e983(100%)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eUnaffected includes no-risk haplotype and carrier embryos according to genetic category. Data in the same column labeled with the same letter indicated non-significant differences (P\u0026thinsp;\u0026gt;\u0026thinsp;0.05), while different letters indicated significant differences (P\u0026thinsp;\u0026lt;\u0026thinsp;0.05).\u003c/p\u003e \u003cdiv id=\"Sec8\" class=\"Section2\"\u003e \u003ch2\u003eReproductive outcome\u003c/h2\u003e \u003cp\u003eOf the 160 patients undergoing oocyte retrieval, 119 patients underwent at least one embryo transfer (74.38%). A clinical pregnancy was obtained in 89 patients, 92 OR cycles and 95 FET cycles (CPR: 74.79% per patient, 71.32% per OR and 58.64% per FET), which led to a live birth in 86 patients, 87 OR cycles and 88 FET cycles (CLBR: 72.27% per patient, 67.44% per OR and 54.32% per FET). There was no significant difference in cumulative pregnancy rate (CPR) and CLBR between the 4 genetic categories. There were 87 singleton deliveries for 85 couples (two couples underwent 2 FET cycles and gave 2 live birth,), and one single-egg twin delivery for one couple, with a total of 89 liveborn children for 86 couples. Seven miscarriages were also reported (miscarriage rate: 5.88%). No stillbirths, ectopic pregnancies, or multiple gestations occurred (Table\u0026nbsp;\u003cspan refid=\"Tab5\" class=\"InternalRef\"\u003e5\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eWhen analyzing the influencing factors of CLBR, we considered female age, OPU times, number of oocytes retrieved/ number of transferable embryos, genetic category (AD,XLD AR,XLR), COH protocol, sperm diagnosis, mutation source, Gn dosage, and BMI. Among these factors, the multivariate logistic regression shows the CLBR per patient of PGT-M is significantly associated with female age, OPU times, number of oocytes retrieved, and number of transferable embryos (Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003e) .\u003c/p\u003e \u003cp\u003eAs OPU time increased, CLBR decreased (2 vs 1, OR:0.27; 95%CI:0.08\u0026ndash;0.90; P\u0026thinsp;=\u0026thinsp;0.032). Regarding the number of oocytes retrieved, CLBR showed a decreasing trend as follows: \u0026gt;30, 11\u0026ndash;20, 1\u0026ndash;10, 21\u0026ndash;30 (\u0026gt;\u0026thinsp;30 vs 1\u0026ndash;10, OR:14.28; 95%CI:1.01-202.47; P\u0026thinsp;=\u0026thinsp;0.049). For transferable embryos, CLBR was significantly higher in groups with 2\u0026ndash;3 and 4\u0026ndash;6 embryos than in those with 1 (2\u0026ndash;3 vs 1, OR:10.52; 95CI%: 2.73\u0026ndash;40.59; P\u0026thinsp;\u0026lt;\u0026thinsp;0.001. 4\u0026ndash;6 vs 1, OR:6.9; 95%CI:1.17\u0026ndash;40.61; P\u0026thinsp;=\u0026thinsp;0.033) (Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003e) .\u003c/p\u003e \u003cp\u003eThe age range of 35\u0026ndash;37 years is the turning point for the decrease in CLBR (OR: 0.12; 95%CI:0.02\u0026ndash;0.73; P\u0026thinsp;=\u0026thinsp;0.021). In order to explore the reasons for this, we analyzed the in vitro fertilization data and PGT data among different female ages. It was found that there were no significant differences in maturation rate, fertilization rate, cleavage rate, and blastocyst formation rate among women of different ages. However, number of oocytes retrieved (11 [6, 14.5] vs 14 [9, 21], median [IQR], P\u0026thinsp;\u0026lt;\u0026thinsp;0.001), number of euploid embryos (1 [0, 1.75] vs 2 [1, 3], P\u0026thinsp;\u0026lt;\u0026thinsp;0.001), number of transferable embryos (0.5 [0, 1] vs 1 [0, 2.75], P\u0026thinsp;=\u0026thinsp;0.005), and euploidy rate (20 [0, 50]% vs 33.33 [25, 50], P\u0026thinsp;=\u0026thinsp;0.038) were significantly lower in women\u0026thinsp;\u0026ge;\u0026thinsp;35y than women\u0026thinsp;\u0026lt;\u0026thinsp;35y. Moreover, Pearson correlation coefficient indicated the number of retrieved oocytes (r=-0.487, P\u0026thinsp;=\u0026thinsp;0.025) and the number of euploid embryos (r=-0.468, P\u0026thinsp;=\u0026thinsp;0.032) were significantly negatively correlated with female age (Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThere was no statistically significant difference in COH protocol, Gn dosage, BMI, sperm diagnosis, mutation source, and genetic category. However, the CLBR of patients using the gonadotropin-releasing hormone (GnRH) agonist long protocol was notably higher than that of the GnRH-antagonist protocol (77.94% vs 68.75%, P\u0026thinsp;\u0026gt;\u0026thinsp;0.05), and the CLBR of couples with oligoasthenoteratozoospermia was notably lower than that of those without the condition (69.86% vs 78.26%, P\u0026thinsp;\u0026gt;\u0026thinsp;0.05).\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab5\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 5\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eReproductive outcome of patients according to genetic category\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"6\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eAD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eXLD\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c5\"\u003e \u003cp\u003eXLR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c6\"\u003e \u003cp\u003eTotal\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of couples\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e68\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e60\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e28\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e160\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo. of patients with at least one transfer cycle\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e56\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e45\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e14\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e119\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo. of OR cycles with at least one transfer cycle\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e61\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e47\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e17\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e129\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of embryos (cycles) transferred\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e78\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e59\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e20\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e162\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo. of patients with at least one clinical pregnancy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e43\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e34\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e89\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo. of OR cycles with at least one clinical pregnancy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e45\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e34\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e9\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e92\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of FET cycles with at least one clinical pregnancies\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e48\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e34\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e9\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e95\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eClinical pregnancy rate (% per patient)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e76.79%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e100.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e75.56%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e57.14%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e74.79%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eClinical pregnancy rate (% per OR)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e73.77%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e100.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e72.34%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e52.94%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e71.32%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eClinical pregnancy rate (% per FET)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e61.54%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e80.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e57.63%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e45.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e58.64%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of babies\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e44\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e33\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e89\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo. of patients with at least one live birth\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e42\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e32\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e86\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo. of OR cycles with at least one live birth\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e43\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e32\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e87\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo. of ET cycles with at least one live birth\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e44\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e32\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e88\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eLive birth delivery rate (% per patient)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e75.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e100.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e71.11%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e57.14%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e72.27%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eLive birth delivery rate (% per OR)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e70.49%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e100.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e68.09%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e47.06%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e67.44%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eLive birth delivery rate (% per FET)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e56.41%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e80.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e54.24%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e40.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e54.32%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of miscarriages\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e7\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMiscarriage rate (% per patient)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e7.14%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e4.44%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e7.14%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e5.88%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMiscarriage rate (% per OR)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e6.56%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.00%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e4.26%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e5.88%\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e5.43%\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eOR\u0026thinsp;=\u0026thinsp;oocyte retrieval; FET\u0026thinsp;=\u0026thinsp;frozen\u0026ndash;warmed embryo transfer. Data in the same column labeled with the same letter indicate non-significant differences (P\u0026thinsp;\u0026gt;\u0026thinsp;0.05), while different letters indicate significant differences (P\u0026thinsp;\u0026lt;\u0026thinsp;0.05). Each FET cycle involves single embryo transfer, but there is one case of monozygotic twins in the AR group.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003ePrevious studies have indicated that the CLBR per patient and per OR cycle of ART (mainly involving IVF and ICSI) in most reproductive centers range from 30\u0026ndash;50%\u003csup\u003e[\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan additionalcitationids=\"CR3 CR4\" citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e]\u003c/sup\u003e, but some centers can achieve rates as high as 80%\u003csup\u003e[\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e]\u003c/sup\u003e. The overall CLBR per patient and per OR cycle of PGT-M in this study is 72.27% and 67.44%, which is higher than the current average CLBR of IVF/ICSI. This might be attributed to the lower average age of the patients in this study.\u003c/p\u003e \u003cp\u003eThere are many studies focused on the reproductive outcomes and influencing factors of IVF, ICSI, PGT-A, and preimplantation genetic testing for structural rearrangements (PGT-SR), but research on PGT-M is relatively scarce\u003csup\u003e[\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e][\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e][\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]\u003c/sup\u003e. This article aims to investigate factors affecting CLBR of PGT-M. The logistic multivariate regression analysis in present study shows that female age, number of retrieval cycles, number of retrieved oocytes and number of transferable embryos all significantly influence the CLBR per patient of PGT-M.\u003c/p\u003e \u003cp\u003ePast studies have revealed that female age is an important factor influencing the CLBR and embryo quantity and quality in IVF and ICSI, with 35\u0026ndash;37 years old being a critical turning point\u003csup\u003e[\u003cspan additionalcitationids=\"CR9 CR10 CR11 CR12 CR13\" citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e]\u003c/sup\u003e. In our study, excluding the groups with a sample size too small (n\u0026thinsp;=\u0026thinsp;3 at 38y, n\u0026thinsp;=\u0026thinsp;1 at 42y), the CLBR of PGT-M gradually decreases after 30 years old, with a significant and sharp decline in the 35\u0026ndash;37 age group (P\u0026thinsp;\u0026lt;\u0026thinsp;0.05). Previous studies have consistently shown that there is a negative correlation between female age and both the number of euploid embryos and the proportion of euploid embryos. This correlation remains relatively stable under the age of 35, but shows a rapid and significant decline after the age of 35\u003csup\u003e[\u003cspan additionalcitationids=\"CR16 CR17\" citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e]\u003c/sup\u003e. Correspondingly, there is a significant decline in number of oocytes retrieved, number of euploid embryos, number of transferable embryos, and euploidy rate after the age of 35 in our study, which is consistent with previous findings. This may suggest that the reduced number of oocytes retrieved and euploid embryos is an important factor contributing to the decline in CLBR of PGT-M in advanced maternal age. It's worth noting that one study showed during the 25\u0026ndash;30 age range, there was an increasing trend in both the number and proportion of euploid embryos, which aligns with our research\u003csup\u003e[\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e]\u003c/sup\u003e. However, our article is the first to investigate this phenomenon in PGT-M cases.\u003c/p\u003e \u003cp\u003eJi et al found that in a fresh embryo transfer cycle of IVF, between 6 and 15 retrieved oocytes might be the optimal number in order to maximize live birth rate and minimize the risk of ovarian hyper stimulation syndrome (OHSS). However, when including fresh and all subsequent FET cycles, CLBR continued to increase with oocyte number, as did the incidence of moderate-severe OHSS\u003csup\u003e[\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e]\u003c/sup\u003e. In this study of PGT-M, the CLBR for patients with more than 30 retrieved oocytes was significantly higher than other groups (P\u0026thinsp;\u0026lt;\u0026thinsp;0.05), with the second highest CLBR observed in the 11\u0026ndash;20 retrieved oocytes group. Nevertheless, in order to maintain a low rate of OHSS and ensure an adequate number of transferable embryos after PGT-M, we recommend that the optimal number of retrieved oocytes for PGT-M patients be between 10\u0026ndash;20.\u003c/p\u003e \u003cp\u003eCLBR was inversely related to OPU times in present syudy. Previous studies have shown that the success rate of patients who undergo a third ART cycle after two failed cycles is significantly reduced\u003csup\u003e[\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e]\u003c/sup\u003e. This may be due to the fact that patients who undergo multiple retrievals often suffered from issues such as diminished ovarian reserve (DOR), poor embryo quality, chromosomal abnormalities, and abnormal endometrial thickness, resulting in insufficient numbers of blastocysts and transferable embryos, or difficulties in embryo implantation.\u003c/p\u003e \u003cp\u003eWe found the genetic categories (AD, XLD, AR, XLR) did not have a significant impact on the CLBR and CPR, possibly because only patients with transferable embryos were selected for transfer, and the calculation of CLBR only includes patients who underwent at least one transfer cycle. But the transferable embryo rate of AR group was significantly higher than AD group, which was consistent with the theory. Additionally, the number of AFC, retrieved eggs, mature eggs, fertilized eggs, cleaved embryos, blastocysts, and biopsied embryos in dominant genetic diseases are all higher than those in recessive genetic diseases (all P\u0026thinsp;\u0026lt;\u0026thinsp;0.05). We speculated that the main reason was that the couples with dominant genetic diseases consulted for PGT at a significantly younger age than those with recessive genetic diseases (29.83\u0026thinsp;\u0026plusmn;\u0026thinsp;3.43 vs 32.58\u0026thinsp;\u0026plusmn;\u0026thinsp;4.16, P\u0026thinsp;\u0026lt;\u0026thinsp;0.05), because they were aware of their genetic condition at an earlier age. Furthermore, the present study showed that PGT-A result (euploid, aneuploid, and mosaic) showed no significant differences among different genetic categories and between affected and unaffected embryos, which has not been elaborated upon in other studies.\u003c/p\u003e \u003cp\u003eOur results are valuable for couples counseling for PGT-M. In general, 8.72% of the retrieved oocytes and 24.59% of the biopsied embryos were diagnosed as transferable embryos, with no significant difference observed across age groups. On average, 1 transferable embryo can be obtained from every 11.47 eggs retrieved. For all couples, when there is one transferable embryo, the chance of a patient delivering a healthy baby was 52.27% (25% for women over 35y). With two, the chance increased to 87.50% (50% for women over 35y). For three transferable embryos, the chance was 90.91% (100% for women over 35y, n\u0026thinsp;=\u0026thinsp;3). With five or more embryos, the chance was 100% (no women over 35y) (Fig.\u0026nbsp;\u003cspan refid=\"Fig5\" class=\"InternalRef\"\u003e5\u003c/span\u003e). However, the sample size of patients with five or more transferable embryos was too small (8 patients, 8 OR cycles), so a 100% chance was not statistically reliable. For PGT-M patients, between 10 and 20 retrieved oocytes may be the optimal number.\u003c/p\u003e \u003cp\u003eThe main limitations was that this study was based on retrospective data from a single center, and the sample size is small, especially the number of patients in the XLD genetic group and those over 38 years old. In addition, none of the mosaic embryos were included in our pool of transferable embryos. In clinical practice, embryos with mosaicism less than 40% can also be considered for transfer in the absence of euploid embryos. Further analysis of data from a larger cohort of PGT-M patients is needed to determine the factors influencing the CLBR of PGT-M.\u003c/p\u003e"},{"header":"Conclusions","content":"\u003cp\u003eIn summary, PGT-M is an effective method to increase the CLBR of healthy babies for couples with monogenic disorders. Our results showed the CLBR per patient of PGT-M is significantly correlated with female age, OPU times, number of oocytes retrieved, and number of transferable embryos, which can provide a basis for PGT-M counselling. Furthermore, our research innovatively suggested that the aneuploidy of embryos is not related to the genetic category of monogenic diseases and whether the embryo is affected or not.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study was approved by the Reproductive Medicine Ethics Committee of the First Affiliated Hospital of Anhui Medical University (Approval No. 2017002). A written informed consent for the PGT treatment was obtained from all couples.\u0026nbsp;\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 dataset supporting the conclusions of this article is included within the article (and its additional file).\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 work was supported by grants from Anhui Medical University Research (2023xkj135)\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors\u0026rsquo; contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eN.W., D.C., Y.H. and Z.W. designed the study and interpreted the results. N.W. performed data analysis and wrote the article. Q.Z., D.K., Y.Y. and X.S. contributed to data collection and interpreted the results. Z.Z., P.Z., Y.H. and Y.C. revised the article. All authors read and approved the final manuscript.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eYang R, Niu ZR, Chen LX, Liu P, Li R, Qiao J. Analysis of related factors affecting cumulative live birth rates of the first ovarian hyperstimulation in vitro fertilization or intracytoplasmic sperm injection cycle: a population-based study from 17,978 women in China. Chin Med J (Engl). 2021;134(12):1405\u0026ndash;15.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eCenters for Disease Control and Prevention. 2021 Assisted Reproductive Technology Fertility Clinic and National Summary Report. US Dept of Health and Human Services; 2023.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eCenters for Disease Control and Prevention. 2020 Assisted Reproductive Technology Fertility Clinic and National Summary Report. US Dept of Health and Human Services; 2022.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eWang YY, Li R, Yang R, Zheng D, Zeng L, Lian Y, et al. Intracytoplasmic sperm injection versus conventional in-vitro fertilisation for couples with infertility with non-severe male factor: a multicentre, open-label, randomised controlled trial. Lancet. 2024;10430:924\u0026ndash;34.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLv H, Li X, Du J, Ling X, Diao F, Lu Q, et al. Effect of endometrial thickness and embryo quality on live-birth rate of fresh IVF/ICSI cycles: a retrospective cohort study. Reprod Biol Endocrinol. 2020;1:89.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eWu CH, Lee TH, Chen HH, Chen CI, Huang CC, Lee MS. The influence of female age on the cumulative live-birth rate of fresh cycles and subsequent frozen cycles using vitrified blastocysts in hyper-responders. TJOG. 2015;5:567\u0026ndash;71.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eKasaven LS, Marcus D, Theodorou E, Jones BP, Saso S, Naja R, et al. Systematic review and meta-analysis: does pre-implantation genetic testing for aneuploidy at the blastocyst stage improve live birth rate? J Assist Reprod Genet. 2023;10:2297\u0026ndash;316.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eMcPherson NO, Zander-Fox D, Vincent AD, Lane M. Combined advanced parental age has an additive negative effect on live birth rates-data from 4057 first IVF/ICSI cycles. J Assist Reprod Genet. 2018;2:279\u0026ndash;87.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHuang Y, Li J, Zhang F, Liu Y, Xu G, Guo J, et al. Factors affecting the live-birth rate in women with diminished ovarian reserve undergoing IVF-ET. Arch Gynecol Obstet. 2018;5:1017\u0026ndash;27.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eJansen RPS. The effect of female age on the likelihood of a live birth from one in-vitro fertilisation treatment. Med J Aust. 2003;6:258\u0026ndash;61.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eGu F, Ruan S, Luo C, Huang Y, Luo L, Xu Y, et al. Can repeat IVF/ICSI cycles compensate for the natural decline in fertility with age? an estimate of cumulative live birth rates over multiple IVF/ICSI cycles in Chinese advanced-aged population. Aging. 2021;10:14385\u0026ndash;98.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHavrljenko J, Kopitovic V, Pjevic AT, Milatovic S, Pavlica T, Andric N, et al. The Prediction of IVF Outcomes with Autologous Oocytes and the Optimal MII Oocyte/Embryo Number for Live Birth at Advanced Maternal Age. Medicina. 2023;10:1799.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eScheffer JB, Scheffer BB, de Carvalho RF, Rodrigues J, Grynberg M, Mendez Lozano DH. Age as A Predictor of Embryo Quality Regardless of The Quantitative Ovarian Response. Int J Fertil Steril. 2017;1:40\u0026ndash;6.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAwadalla M, Kim A, Vestal N, Ho J, Bendikson K. Effect of Age and Embryo Morphology on Live Birth Rate After Transfer of Unbiopsied Blastocysts. JBRA Assist Reprod. 2021;3:373\u0026ndash;82.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHoyos LR, Cheng CY, Brennan K, Hubert G, Wang B, Buyalos RP, et al. Euploid rates among oocyte donors: is there an optimal age for donation? J Assist Reprod Genet. 2020;3:589\u0026ndash;94.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eIrani M, Zaninovic N, Rosenwaks Z, Xu K. Does maternal age at retrieval influence the implantation potential of euploid blastocysts? Am J Obstet Gynecol. 2019;4:379.e1-379.e7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLa Marca A, Minasi MG, Sighinolfi G, Greco P, Argento C, Grisendi V, et al. Female age, serum antim\u0026uuml;llerian hormone level, and number of oocytes affect the rate and number of euploid blastocysts in in vitro fertilization/intracytoplasmic sperm injection cycles. Fertil Steril. 2017;5:777\u0026ndash;e7832.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eDemko ZP, Simon AL, McCoy RC, Petrov DA, Rabinowitz M. Effects of maternal age on euploidy rates in a large cohort of embryos analyzed with 24-chromosome single-nucleotide polymorphism-based preimplantation genetic screening. Fertil Steril. 2016;5:1307\u0026ndash;13.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eJingjuan J, Yusheng L, Xianhong T, Lihua L, Jinlong M, Zijiang C. The optimum number of oocytes in IVF treatment: an analysis of 2455 cycles in China. Hum Reprod. 2013;10:2728\u0026ndash;34.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eVan Der Kelen A, Santos-Ribeiro S, De Vos A, Verdyck P, De Rycke M, Berckmoes V, et al. Parameters of poor prognosis in preimplantation genetic testing for monogenic disorders. Hum Reprod. 2021;9:2558\u0026ndash;66.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eMalchau SS, Henningsen AA, Forman J, Loft A, Nyboe Andersen A, Pinborg A. Cumulative live birth rate prognosis based on the number of aspirated oocytes in previous ART cycles. Hum Reprod. 2019;1:171\u0026ndash;80.\u003c/span\u003e\u003c/li\u003e\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":"live birth, preimplantation genetic testing, monogenic disorders, embryo, aneuploidy","lastPublishedDoi":"10.21203/rs.3.rs-4450499/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4450499/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eObjective\u003c/h2\u003e \u003cp\u003eThe objective of this study was to explore the factors influencing the cumulative live birth rate (CLBR) for couples undergoing preimplantation genetic testing for monogenic disorders (PGT-M).\u003c/p\u003e\u003ch2\u003eMethods\u003c/h2\u003e \u003cp\u003eThis was a retrospective cohort study involving couples who underwent PGT-M at our center from January 2017 to December 2023. A multivariate logistic regression analysis was applied to explore the following factors that may influence CLBR per patient of PGT-M: female age, oocytes pick up (OPU) times, genetic category, COH protocol, number of oocytes retrieved/number of transferable embryos, sperm diagnosis, pathogenic gene source, and dosage of gonadotrophins (Gn).\u003c/p\u003e\u003ch2\u003eResults\u003c/h2\u003e \u003cp\u003eA total of 160 couples, 208 oocyte retrieval (OR) cycles, 193 PGT cycles met inclusionary criteria. Among them, 162 single embryo of 119 couples were transferred, resulting in a CLBR of 72.27% per patient and 67.44% per OR cycle. The logistic regression showed that female age (OR: 0.12, 95%CI: 0.02\u0026ndash;0.73, P\u0026thinsp;=\u0026thinsp;0.021), OPU times (OR: 0.27, 95%CI:0.08\u0026ndash;0.90, P\u0026thinsp;=\u0026thinsp;0.032), number of oocytes retrieved (OR: 14.28, 95%CI: 1.01-202.47, P\u0026thinsp;=\u0026thinsp;0.049) and number of transferable embryos (OR: 10.52, 95%CI: 2.73\u0026ndash;40.59, P\u0026thinsp;\u0026lt;\u0026thinsp;0.001) were associated with CLBR per patient. Furthermore, our research innovatively suggested that the aneuploidy of embryos is not related to the genetic category of monogenic diseases (37% in AD vs 11% in XLD vs 33% in AR vs 41% in XLR, P\u0026thinsp;\u0026gt;\u0026thinsp;0.05) and whether the embryo is affected or not (34% in unaffected embryos vs 44% in affected embryos, P\u0026thinsp;\u0026gt;\u0026thinsp;0.05).\u003c/p\u003e\u003ch2\u003eConclusion\u003c/h2\u003e \u003cp\u003eThe CLBR per patient of PGT-M is significantly associated with female age, OPU times, number of oocytes retrieved / number of transferable embryos.\u003c/p\u003e","manuscriptTitle":"Factors influencing the reproductive outcome of preimplantation genetic testing for monogenic disorders: a single-center retrospective cohort study","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-06-07 19:00:53","doi":"10.21203/rs.3.rs-4450499/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":"8e3b2c5f-52f1-4ea9-bbe5-6aeb6413eae7","owner":[],"postedDate":"June 7th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2024-06-11T12:51:16+00:00","versionOfRecord":[],"versionCreatedAt":"2024-06-07 19:00:53","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-4450499","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-4450499","identity":"rs-4450499","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}