在寻求辅助生殖治疗的夫妇中染色体异常的景观
Shimin Yuan1,2, Dehua Cheng2, Qing Zhang2
1NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, China.
Human reproduction (Oxford, England)
|February 14, 2026
概括
染色体异常影响了接受辅助生殖技术 (ART) 的3.42%的夫妇,年轻人,精液质量差的人和多次不良妊娠结果的风险更高. 这凸显了在ART之前卡里奥类型化的重要性.
科学领域:
- 生殖医学 生殖医学
- 人类遗传学 人类遗传学
- 细胞遗传学 细胞遗传学
背景情况:
- 生殖功能衰竭是全球重要的健康问题.
- 染色体异常是导致生殖失败的关键因素.
- 辅助生殖技术 (ART) 是常用的,但对ART候选人的染色体异常风险的大规模数据有限.
研究的目的:
- 在寻求ART的夫妇中确定染色体异常的流行率和类型.
- 根据生殖功能衰竭亚型,性别,年龄,精液质量和先前不良妊娠事件来调查这些异常的分层风险.
主要方法:
- 对接受ART的227,818对夫妇的细胞遗传数据进行了回顾性分析.
- 参与者包括那些患有初级不孕症,二次不孕症和不良妊娠结果的人.
- 用GTG-banding进行细胞遗传分析;使用R软件进行统计分析.
主要成果:
- 染色体异常的总体患病率为3.42%,在有不良妊娠结果 (4.83%) 的夫妇中最高.
- 患病率与年龄相反相关,并且随着精液质量降低和妊娠不良事件增加,患病率显著增加.
- 常见的异常包括转位和反转;频繁的形病是克莱因费尔特 (47,XXY) 和特纳 (45,X) 综合征.
结论:
- 对临床医生来说,分层风险数据对于评估生殖风险和在ART之前指导型决定至关重要.
- 这些发现强调了细胞遗传学分析对具有特定生殖失败风险因素的夫妇的重要性.
- 局限性包括缺乏详细的临床数据,缺乏肥沃的对照组,以及GTG-banding可能错过的神秘异常.
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