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| 原因不明复发性流产患者囊胚非整倍体性及临床结局分析 |
| Analysis of blastocyst aneuploidy and clinical outcomes in patients with unexplained recurrent spontaneous abortion |
| 投稿时间：2025-04-09 |
| DOI：10.3969/j.issn.1000-0399.2026.05.007 |
| 中文关键词: 胚胎非整倍体筛查 原因不明复发性流产 非整倍体 女方年龄 囊胚 |
| 英文关键词: PGT-A Unexplained recurrent spontaneous abortion Aneuploidy Maternal age Blastocyst |
| 基金项目:中山市社会公益科技研究项目(编号:2022B1001,2024B1004) |
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| 中文摘要: |
| 目的 研究原因不明复发性流产（RSA）患者行植入前胚胎非整倍体筛查（PGT-A）后染色体异常占比与移植后临床结局，评估PGT-A的临床应用价值。方法 回顾性收集2018年1月至2024年8月就诊于中山博爱医院（中山市妇幼保健院）生殖中心，因RSA行PGT-A的191例患者资料，分为高龄（>35岁）RSA组（n=85）及非高龄（≤35岁）RSA组（n=106），与因单基因病行PGT-M（对照组）患者73例的临床数据，比较两组囊胚染色体结果及妊娠结局。结果 不同年龄组患者身体质量指数、卵泡刺激素、男方精液、胚胎评分等指标及临床妊娠率、流产率差异无统计学意义（P>0.05）。高龄RSA组嵌合体胚胎率高于对照组（P<0.05），整倍体及非整倍体率差异无统计学意义（P>0.05）；非高龄RSA组与对照组胚胎染色体异常占比差异无统计学意义（P>0.05）。结论 非高龄RSA患者胚胎染色体异常占比未升高，高龄RSA患者可能存在更高的嵌合体风险，提示染色体异常或是RSA的潜在机制之一。 |
| 英文摘要: |
| Objective To investigate the proportion of chromosomal abnormalities in embryos after preimplantation genetic testing for aneuploidy(PGT-A) in patients with unexplained recurrent spontaneous abortion(RSA) and evaluate the clinical outcomes post-transfer, thereby assessing the value of PGT-A. Methods A retrospective analysis was conducted on clinical data from RSA patients undergoing PGTA(stratified into advanced maternal age [>35 years] and non-advanced maternal age [≤35 years]) and control subjects undergoing preimplantation genetic testing for monogenic disorders(PGT-M) between January 2018 and August 2024. The chromosomal results of blastocysts and pregnancy outcomes were compared between groups. Results No significant differences were observed in baseline parameters(e.g., BMI, FSH), semen parameters, embryo grading or pregnancy outcomes(clinical pregnancy rate, miscarriage rate) across age groups(P>0.05). The RSA advanced age group showed a significantly higher rate of mosaic embryos compared to the control group(P<0.05), while rates of euploidy and aneuploidy exhibited no statistical differences. In the non-advanced age RSA group, rates of chromosomal abnormalities(euploidy, aneuploidy, or mosaicism) were comparable to those of the control group(P>0.05). Conclusion Non-advanced age RSA patients do not exhibit elevated proportion of chromosomal abnormalities, but advanced age RSA patients may carry a higher risk of mosaic embryos, suggesting chromosomal anomalies as a potential mechanism in unexplained RSA. Further research is needed to validate the clinical utility of PGT-A in this population. |
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