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主要和次要的反复流产中的染色体异常:对PGT-A的意义

Jacques Cohen^1,2, Michal Kirshenbaum³, Anat Grossman-Jonish⁴

¹Arrow Program for Medical Research Education, Sheba Medical Center, Tel-Hashomer, Israel. jc.med.research@gmail.com.

Journal of assisted reproduction and genetics

|November 7, 2025

概括

胚胎染色体异常常见于重复性流产 (RM). 初级RM病例的患病率较高,而22周以上的先前成功怀孕可以降低异常风险.

科学领域:

生殖医学生殖医学
遗传学遗传学是一个
产科产科产科产科产科

背景情况:

经常性流产 (RM) 影响了大量女性.
了解潜在的原因,特别是胚胎染色体异常,对于有效的管理至关重要.
区分初级和二级RM可能会提供对不同病因因素的见解.

研究的目的:

确定胚胎染色体异常在经历反复流产 (RM) 的患者中的患病率.
调查初级RM和二级RM之间的异常率的潜在差异.
探索产科病史对RM染色体异常患病率的影响.

主要方法:

从327名RM患者的351个受孕产品 (POC) 样本进行了回顾性分析.
利用定量光聚合酶链反应 (QF-PCR) 和染色体微阵列分析 (CMA) 来检测异常.
将患者分为初级RM (没有先前的活产) 和二级RM (先前的活产).

主要成果:

总体而言,胚胎染色体异常发生率为47.6%.
与二次RM (44.1%) 相比,初级RM患者的患病率更高 (56.7%).
在二次RM中,每一个超过22周的先前怀孕都显著降低了异常的可能性 (p < 0.001).

结论:

初级RM与胚胎染色体异常的更高患病率有关,即使母亲年龄较小.
超过22周的成功怀孕史与RM胚胎染色体异常的风险降低有关.
这些发现突出了初级与二级RM的不同的病因路径.

关键词:

染色体异常是一种染色体异常.染色体微阵列分析 (CMA)植入前遗传测试,以检测形形状 (PGT-a).主要和次要的RM是RM.定量光聚合酶连锁反应 (QF-PCR) 是一种经常性流产 (RM) 是指经常性流产.

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