染色体易位携带者行PGT-SR与PGT-A的临床结局对比分析：一项基于倾向性评分匹配的 回顾性队列研究

Comparative Analysis of Clinical Outcomes between PGT-SR and PGT-A in Chromosomal Translocation Carriers: A Retrospective Cohort Study Based on Propensity Score Matching

摘要: 目的：比较染色体易位携带者行胚胎植入前染色体结构重排检测(PGT-SR)与非整倍体检测(PGT-A)的实验室及临床妊娠结局，探讨更优的临床检测策略。方法：回顾性分析2020年1月至2024年12月期间因染色体易位接受PGT助孕的621个取卵周期的临床资料。按检测策略分为PGT-SR组与PGT-A组。采用1:1最邻近法进行倾向性评分匹配(PSM)，以控制女方年龄、体质指数(BMI)及基础内分泌等混杂因素，对比匹配前后两组总体及不同易位类型亚组的周期取消率、临床妊娠率、活产率等结局指标。并利用多因素Logistic回归分析评估PGT策略对临床妊娠结局的独立影响。结果：经PSM匹配后，两组各纳入239个取卵周期，基线特征达到良好均衡。总体分析表明，PGT-SR组的周期取消率显著低于PGT-A组(41.0% vs. 51.5%, P = 0.022)，每取卵周期的临床妊娠率显著更高(43.1% vs. 33.9%, P = 0.039)。亚组分析提示，在相互易位携带者中，PGT-SR组的可移植胚胎率显著优于PGT-A组(17.7% vs. 13.1%, P = 0.004)，且在移植正常胚胎周期中，PGT-SR组的流产率显著低于PGT-A组(5.0% vs. 17.2%, P = 0.034)。多因素回归分析显示，在校正年龄、BMI及2PN率等因素后，PGT-SR策略仍与临床妊娠率显著相关(OR = 1.381, 95% CI: 1.016~1.877, P = 0.039)。结论：对于染色体易位携带者，与PGT-A策略相比，PGT-SR策略与更低的周期取消率和更高的妊娠效率相关联。尤其在相互易位人群中，PGT-SR策略显示出与正常胚胎移植后更低流产风险的相关性，具备更高的临床推广与应用价值。

Abstract: Objective: To compare the laboratory and clinical pregnancy outcomes of preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) and preimplantation genetic testing for aneuploidy (PGT-A) in chromosomal translocation carriers, and to explore the optimal clinical testing strategy. Methods: Clinical data of 621 oocyte retrieval cycles from chromosomal translocation carriers undergoing PGT assisted reproduction between January 2020 and December 2024 were retrospectively analyzed. Cycles were categorized into the PGT-SR group and the PGT-A group according to the testing strategy. Propensity score matching (PSM) was performed using the 1:1 nearest neighbor method to control for confounding factors, including maternal age, body mass index (BMI), and basal endocrine levels. Outcome indicators, such as cycle cancellation rate, clinical pregnancy rate, and live birth rate, were compared between the two groups and across different translocation subgroups both before and after matching. Furthermore, multivariate logistic regression analysis was utilized to evaluate the independent impact of PGT strategies on clinical pregnancy outcomes. Results: After PSM, 239 oocyte retrieval cycles were included in each group, achieving well-balanced baseline characteristics. Overall analysis demonstrated that the cycle cancellation rate in the PGT-SR group was significantly lower than that in the PGT-A group (41.0% vs. 51.5%, P = 0.022), while the clinical pregnancy rate per oocyte retrieval cycle was significantly higher (43.1% vs. 33.9%, P = 0.039). Subgroup analysis revealed that among reciprocal translocation carriers, the PGT-SR group achieved a significantly higher transferable embryo rate compared to the PGT-A group (17.7% vs. 13.1%, P = 0.004). Notably, in cycles where normal embryos were transferred, the miscarriage rate in the PGT-SR group was significantly lower than that in the PGT-A group (5.0% vs. 17.2%, P = 0.034). Multivariate regression analysis showed that after adjusting for age, BMI, and 2PN rate, the PGT-SR strategy remained significantly associated with the clinical pregnancy rate (OR = 1.381, 95% CI: 1.016~1.877, P = 0.039). Conclusion: For chromosomal translocation carriers, the PGT-SR strategy is associated with a lower cycle cancellation rate and higher pregnancy efficiency compared to the PGT-A strategy. Particularly in the reciprocal translocation population, the PGT-SR strategy shows a correlation with a lower risk of miscarriage following normal embryo transfer, suggesting high value for clinical promotion and application.