自然妊娠、辅助生殖妊娠自然流产与流产组织染色体异常的关联  

Association between spontaneous abortion and chromosomal abnormalities of products of conception from spontaneous and ART-conceived pregnancies

作　　者：江旭 姚迪 沈晔 郭凌岑 陶荷花 赵馨 杨岚 JIANG Xu;YAO Di;SHEN Ye;GUO Lingcen;TAO Hehua;ZHAO Xin;YANG Lan(Wuxi School of Medicine,Jiangnan University,Wuxi 214122;Department of Family Planning,Affiliated Women’s Hospital of Jiangnan University(Wuxi Maternity and Child Health Care Hospital),Wuxi 214002;Department of Medical Genetics and Prenatal Diagnosis,Affiliated Women’s Hospital of Jiangnan University(Wuxi Maternity and Child Health Care Hospital),Wuxi 214002,China)

机构地区：[1]江南大学无锡医学院,无锡214122 [2]江南大学附属妇产医院(无锡市妇幼保健院)计划生育科,无锡214002 [3]江南大学附属妇产医院(无锡市妇幼保健院)医学遗传与产前诊断科,无锡214002

出　　处：《中南大学学报(医学版)》2025年第1期36-44,共9页Journal of Central South University :Medical Science

基　　金：江苏省妇幼保健科研项目(F202205);无锡市医学创新团队项目(CXTD2021016);无锡市“双百”中青年医疗卫生拔尖人才项目(BJ2023082)。

摘　　要：目的:染色体异常是发生自然流产(spontaneous abortion,SA)的最常见原因。本研究旨在分析SA与流产组织染色体异常的关联,并比较不同的妊娠方式和不同的流产次数对流产组织染色体异常的影响,以期为临床咨询提供参考。方法:选择2019年1月至2023年12月于江南大学附属妇产医院(无锡市妇幼保健院)就诊的SA患者共1345例。根据妊娠方式分2组:自然妊娠组(S组,n=1242)、辅助生殖妊娠组(ART组,n=103)。按流产次数将S组的1242例患者进一步分为自然妊娠偶发性流产组(S-1组,n=780)、自然妊娠复发性流产组(S-2组,n=462),将ART组的103例患者进一步分为辅助生殖妊娠偶发性流产组(ART-1组,n=68)、辅助生殖妊娠复发性流产组(ART-2组,n=35)。采用染色体微阵列分析(chromosomal microarray analysis,CMA)技术对流产组织进行染色体分析。结果:S-1组和S-2组染色体数目异常的发生率分别为56.79%(443/780)和52.38%(242/462),染色体结构异常的发生率分别为4.36%(34/780)和7.36%(34/462),染色体结构异常发生率组间差异有统计学意义(P<0.05)。在自然妊娠SA病例中,随着流产次数的增多,染色体数目异常的发生率逐渐降低,流产≥4次组的染色体数目异常发生率明显低于流产1次、2次组(均P<0.05);流产1、2、3、≥4次组的染色体结构异常发生率分别为3.46%、5.65%、5.88%、4.35%,组间比较差异均无统计学意义(均P>0.05);致病性拷贝数变异(pathogenic copy number variants,pCNVs)+可能致病性拷贝数变异(likely pathogenic copy number variants,LP-CNVs)的发生率在流产次数1~3次组中逐渐升高,且1次组与2次组之间差异有统计学意义(P<0.05)。ART-1组和ART-2组染色体数目异常的发生率分别为47.06%(32/68)和37.14%(13/35),染色体结构异常发生率分别为2.94%(2/68)和11.43%(4/35),组间差异均无统计学意义(均P>0.05)。S-1与ART-1组、S-2与ART-2组之间染色体数目异常发生率、染色体结构异常发Objective:Chromosomal abnormalities are the most common cause of spontaneous abortion(SA).This study aims to analyze the association between SA and chromosomal abnormalities in products of conception,and to compare the impact of different pregnancy modes and different numbers of previous abortions on chromosomal abnormalities,providing clinical consulting references.Methods:A total of 1345 SA patients treated at the Affiliated Women’s Hospital of Jiangnan University(Wuxi Maternity and Child Health Care Hospital)between January 2019 and December 2023 were enrolled.According to the mode of conception,patients were divided into 2 groups:a spontaneous pregnancy group(S group,n=1242)and an assisted reproductive technology(ART)-conceived group(ART group,n=103).Based on the number of miscarriages,the S group was further subdivided into a spontaneous sporadic abortion group(S-1 group,n=780)and a spontaneous recurrent abortion group(S-2 group,n=462);the ART group was subdivided into an ART sporadic abortion group(ART-1 group,n=68)and an ART recurrent abortion group(ART-2 group,n=35).Chromosomal microarray analysis(CMA)was performed on products of conception.Results:The incidence of numerical chromosomal abnormalities was 56.79%(443/780)in the S-1 group and 52.38%(242/462)in the S-2 group,while the incidence of structural abnormalities was 4.36%(34/780)and 7.36%(34/462),respectively.There was a statistically significant difference in structural abnormalities between the 2 groups(P<0.05).Among the spontaneous pregnancy SA cases,the incidence of numerical abnormalities decreased with increasing numbers of miscarriages,and was significantly lower in the group with≥4 miscarriages compared to those with 1 or 2 miscarriages(both P<0.05).The incidence of structural abnormalities in groups with 1,2,3,and≥4 miscarriages was 3.46%,5.65%,5.88%,and 4.35%,respectively,with no statistically significant differences among groups(all P>0.05).The incidence of pathogenic copy number variants(pCNVs)plus likely pathogenic copy number var

关 键 词：自然流产 染色体异常 拷贝数变异 染色体微阵列分析 自然妊娠 辅助生殖妊娠 

分 类 号：R714.21[医药卫生—妇产科学]