育龄女性早期自然流产组织染色体非整倍体研究

doi:10.3969/j.issn.1004-616x.2025.03.013

癌变·畸变·突变 ›› 2025, Vol. 37 ›› Issue (3): 252-256.doi: 10.3969/j.issn.1004-616x.2025.03.013

• 检测研究 • 上一篇

育龄女性早期自然流产组织染色体非整倍体研究

朱雨露¹, 徐岚²

1. 江南大学附属医院妇产科, 江苏无锡 214062;
2. 汕头大学医学院第一附属医院妇产科, 广东汕头 515041

收稿日期:2024-07-14 修回日期:2025-03-01 发布日期:2025-06-13
通讯作者: 徐岚
作者简介:朱雨露，E-mail：854732101@qq.com。

Chromosomal aneuploidy in early spontaneously aborted tissues

ZHU Yulu¹, XU Lan²

1. Department of Obstetrics and Gynecology, The Affiliated Hospital of Jiangnan University, Wuxi 214062, Jiangsu;
2. Department of Obstetrics and Gynecology, The First Affiliated Hospital of Shantou University Medical Colloge, Shantou 515041, Guangdong, China

Received:2024-07-14 Revised:2025-03-01 Published:2025-06-13

摘要/Abstract

摘要： 目的：分析育龄女性发生早期自然流产胚胎组织的遗传物质异常情况及其相关影响因素，为降低育龄女性自然流产发生率提供理论依据。方法：采用高通量测序的方法进行99例早期自然流产组织染色体非整倍体和100 kb及以上基因片段微重复或微缺失检测，回顾性分析育龄女性发生早期自然流产的胚胎组织染色体异常的发生率及其与母体相关因素之间的关系。结果：共检出染色体非整倍体和染色体微重复或微缺失异常56例，其中46例为染色体非整倍体异常。流产组织中染色体非整倍体异常的发生率均高于正常核型；流产组织具有致病意义的染色体微重复或微缺失的发生与孕妇年龄有关(P=0.004)。在妊娠产物中检出具有明确致病意义的100 kb及以上染色体微重复或微缺失的发生率随着母亲年龄的增加而升高，随着孕次的增加，胚胎组织发生染色体异常的风险也随之增加(P<0.05)。结论：胚胎染色体异常是导致早期自然流产的主要原因。建议对早期流产组织进行常规的遗传学检查以明确自然流产的病因，并在发现异常后进行父母双方的细胞遗传学检查，以明确是否为遗传或新发突变。

关键词: 早期自然流产, 染色体非整倍体, 拷贝数变异, 孕次

Abstract: OBJECTIVE： To determine chromosomal aneuploidy and related factors in first-trimester spontaneous aborted tissues. METHODS： Conducted detection of aneuploid chromosomes and microduplication or micro-deletion of gene fragments which are larger than 100 kb， and retrospective analysis to find the incidence of chromosomal abnormalities in products of conceptions (POC). Compared with existing literature to identify related factors. RESULTS： Among the 56 cases with abnormal karyotypes，46 cases had abnormal number of chromosomes. The number of cases with abnormal chromosomes was higher than that with normal chromosomes. Frequencies of micro-duplicates or micro-deletions of gene fragments were associated with ages of pregnant women (P=0.004). The abnormal rate of these micro-duplicates or micro-deletions increased with maternal age and gravidity (P<0.05). CONCLUSION： Presence of chromosomal abnormalities in early spontaneously aborted tissues indicate that these abnormalities were the main cause of miscarriage in the first trimester. For couples with early spontaneous abortion，cytogenetic examination should be performed on all of POC.

Key words: spontaneous abortion, chromosome aberrations, copy number variants, gravidity

中图分类号:

R715.5

朱雨露, 徐岚. 育龄女性早期自然流产组织染色体非整倍体研究[J]. 癌变·畸变·突变, 2025, 37(3): 252-256.

ZHU Yulu, XU Lan. Chromosomal aneuploidy in early spontaneously aborted tissues[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2025, 37(3): 252-256.

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育龄女性早期自然流产组织染色体非整倍体研究

Chromosomal aneuploidy in early spontaneously aborted tissues

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