辅助生殖技术助孕女性稽留流产绒毛组织各型染色体异常发生率的研究  

The incidence of chromosomal abnormalities in the villus tissue of women with missed abortion by assisted reproductive technology

作　　者：慕铭坤 孙思敏 郑威 杨宸 杨书衡 俎若雯 张琳琳[1] 高金爽 李静[1] 王兴玲[1] 管一春[1] Mu Mingkun;Sun Simin;Zheng Wei;Yang Chen;Yang Shuheng;Zu Ruowen;Zhang Linlin;Gao Jinshuang;Lijing;Wang Xingling;Guan Yichun(The Third Affiliated Hospital of Zhengzhou University,Zhengzhou 454000,China)

机构地区：[1]郑州大学第三附属医院生殖中心,454000

出　　处：《中华生殖与避孕杂志》2021年第6期538-542,共5页Chinese Journal of Reproduction and Contraception

基　　金：中华医学会临床医学科研专项基金(18010150744);生殖医学国家重点实验室开放基金(SKLLRM-K201903);河南省科技计划项目(202102310061)。

摘　　要：目的:研究辅助生殖技术(assisted reproductive technology, ART)与自然妊娠(natural conception, NC)受孕稽留流产患者绒毛组织各型染色体异常发生率及分类情况。方法:采用回顾性队列研究,共收集2016年1月至2020年1月期间在郑州大学第三附属医院生殖中心就诊的637例稽留流产患者的绒毛组织,根据受孕方式将患者分为ART组和NC组,再根据采用不同的ART助孕方式进一步将ART组分为夫精人工授精(artificial insemination by husband, AIH)、体外授精( in vitro fertilization, IVF)、卵胞质内单精子显微注射(intracytoplasmic sperm injection, ICSI)三组。通过高通量测序(next generation sequencing, NGS)技术检测稽留流产患者绒毛组织的染色体拷贝数变异(copy number variations, CNVs)和染色体数目的异常。 结果:637例稽留流产患者的绒毛组织染色体检测结果中,染色体CNVs和数目正常的绒毛组织占样本总例数的45.2%(288/637),染色体CNVs和数目异常的绒毛组织占样本总例数的54.8%(349/637)。其中CNVs占比3.8%(14/637),染色体数目异常占比52.5%(335/637)。ART组与NC组绒毛组织染色体异常率分别为59.2%(226/382)、51.0%(130/255),差异无统计学意义( P>0.05);其中AIH组、IVF组、ICSI组绒毛组织染色体异常率分别为52.1%(25/48)、58.9%(146/248)、64.0%(55/86),与NC组相比,IVF组和ICSI组绒毛组织染色体异常有升高趋势,四组间两两比较差异均无统计学意义( P>0.008)。 结论:总体ART助孕不增加女性稽留流产绒毛组织染色体异常的发生率,但IVF/ICSI助孕较自然受孕及AIH助孕,稽留流产绒毛染色体异常率有增高趋势。Objective:To study the incidence and classification of chromosomal abnormalities in villi of missed abortion patients with assisted reproductive technology (ART) and natural conception (NC).Methods:Totally 637 patients with missed abortion villi from the Reproductive Center of the Third Affiliated Hospital of Zhengzhou University during January 2016 and January 2020 were collected and divided into ART group and NC group according to the mode of pregnancy in this retrospective cohort study. The ART group was further divided into artificial insemination by husband (AIH), in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Next generation sequencing (NGS) was used to detect the copy number variations (CNVs) and chromosome number abnormalities of chorionic villi of missed abortion. Results:Among 637 missed abortion chorionic villi, 45.2% (288/637) of the samples had normal chromosome and 54.8% (349/637) had abnormal chromosome. CNVs accounted for 3.8% (14/637) of the total samples, and chromosome number abnormalities accounted for 52.5% (335/637) of the total samples. The abnormal rates of villi chromosome in ART group and NC group were 59.2% (226/382) and 51.0% (130/255), respectively, and there was no significant difference between ART group and NC group ( P>0.05). The abnormal rates of villus chromosome in AIH group, IVF group and ICSI group were 52.1% (25/48), 58.9% (146/248) and 64.0% (55/86), respectively. Compared with NC group, the abnormal rate of villus chromosome in IVF group and ICSI group was increased, but there was no significant difference ( P>0.008). Conclusion:In general, ART did not increase the incidence of chromosomal abnormalities in missed abortion villi. However, compared with natural pregnancy and AIH assisted pregnancy, IVF/ICSI had a higher chromosomal abnormality in missed abortion villi.

关 键 词：生殖技术 辅助 稽留流产 绒毛染色体 非整倍体 染色体拷贝数变异 

分 类 号：R714.8[医药卫生—妇产科学] R714.21[医药卫生—临床医学]