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胚胎植入前非整倍体遗传学检测对高龄女性活产率的影响及相关因素分析

Effect of Preimplantation Genetic Testing for Aneuploidies on Live Birth Outcomes and the Influencing Factors in Women of Advanced Maternal Age

  • 摘要:
    目的 探讨胚胎植入前非整倍体遗传学检测(preimplantation genetic testing for aneuploidies, PGT-A)对高龄(≥38岁)女性妊娠结局的影响,并分析影响高龄女性PGT-A活产率的相关因素。
    方法 采用回顾性队列研究纳入2019年1月–2023年6月行PGT-A助孕的高龄女性患者首次取卵周期,采用倾向性评分匹配同期行体外受精/卵母细胞浆单精子注射(in vitro fertilization/intracytoplasmic sperm injection, IVF/ICSI)助孕的高龄患者首次取卵周期作为对照组(非PGT-A组),PGT-A组与非PGT-A组各纳入193周期,随访至2024年1月,其中2019年1月–2022年10月间进行的取卵周期均完成活产随访。比较两组间临床妊娠结局,主要结局指标为每取卵周期累积活产率,次要结局指标为每取卵周期累积临床妊娠率、自然流产率。纳入PGT-A组完成活产随访的145周期,采用二元logistic回归分析和受试者工作特征(ROC)曲线分析影响其活产率的相关因素。
    结果  两组完成活产随访周期分别为:PGT-A组145周期、非PGT-A组161周期,PGT-A组每取卵周期累积活产率为25.52%(37/145),非PGT-A组为28.50% (46/161),两组差异无统计学意义。两组各193取卵周期中,PGT-A组有53周期、非PGT-A组有72周期获得临床妊娠,每取卵周期累积临床妊娠率差异有统计学意义(27.46% vs. 37.31%,P<0.05)。临床妊娠中,PGT-A组自然流产率低于非PGT-A组,差异有统计学意义(7.55% vs. 25.00%,P<0.05)。接受PGT-A助孕的高龄女性,女性年龄〔比值比(OR)=0.786, 95%置信区间(CI):0.635~0.973〕、窦卵泡数量(antral follicle count, AFC)(OR=1.110, 95%CI:1.013~1.216)与活产结局相关,随女性年龄增加及AFC减少,获得活产的概率下降,当女性年龄≥42岁或AFC≤8个,行PGT-A助孕预期活产结局差。
    结论 PGT-A不影响高龄女性每取卵周期累积活产率,但可有效减少由于非整倍体胚胎所致植入失败及自然流产风险。对接受PGT-A助孕的高龄女性,年龄及AFC是影响活产结局的重要因素。

     

    Abstract:
    Objective To investigate effect of preimplantation genetic testing for aneuploidies (PGT-A) on the reproductive outcomes of women of advanced maternal age (AMA) (≥38 years), and to analyze factors influencing the live birth rate in AMA women who have received PGT-A.
    Methods A retrospective cohort study was conducted. AMA women undergoing PGT-A were enrolled in the PGT-A group. All of them underwent their first oocyte retrieval cycle between January 2019 and June 2023. AMA women undergoing in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) and their first oocyte retrieval cycle over the same period of time were enrolled in the control group (the non-PGT-A group) via propensity score matching. The PGT-A group and the non-PGT-A group each included 193 cycles, which were followed up until January 2024. Follow-up concerning live births was completed for all oocyte retrieval cycles conducted between January 2019 and October 2022. The reproductive outcomes were compared between the two groups. The primary outcome indicator was cumulative live birth rate (CLBR) per oocyte retrieval, while the secondary outcome indicators were cumulative clinical pregnancy rate (CCPR) per oocyte retrieval and spontaneous abortion rate. For the 145 cycles in the PGT-A group with completed live birth follow-up, binary logistic regression analysis and receiver operator characteristic (ROC) curves were used to analyze the influencing factors of live birth rates.
    Results A total of 145 cycles in the PGT-A group and 161 cycles in the non-PGT-A group completed follow-up for live births. The CLBR per oocyte retrieval of the PGT-A group was 25.52% (37/145), while that of the non-PGT-A group was 28.50% (46/161), with no significant difference being observed between the two groups (P<0.05). Of the 193 oocyte retrieval cycles in each group, 53 cycles in the PGT-A group and 72 cycles in the non-PGT-A group resulted in clinical pregnancies, with the difference in the CCPR per oocyte retrieval being statistically significant (27.46% vs. 37.31%, P<0.05). Concerning clinical pregnancies, the spontaneous abortion rate of the PGT-A group was lower than that of the non-PGT-A group, with the difference being statistically significant (7.55% vs. 25.00%, P<0.05). In AMA women who had undergone PGT-A for reproductive assistance, maternal age (odds ratio OR=0.786, 95% confidence interval CI: 0.635-0.973) and the antral follicle count (AFC) (OR=1.110, 95% CI: 1.013-1.216) were correlated with the outcome of live births outcome. The probability of live births decreased with increasing maternal age and decreasing AFC. When the female age was ≥42 years or when AFC≤8, the expected live birth outcome of PGT-A assisted pregnancy was poor.
    Conclusion PGT-A does not affect the CLBR per oocyte retrieval in AMA women, but it can effectively reduce the risks of implantation failure and spontaneous abortion due to fetal aneuploidies. For PGT-A-assisted pregnancy in AMA women, maternal age and AFC are important factors affecting the live birth outcomes.

     

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