高通量测序技术应用于稽留流产遗传因素的分析  

Analysis of genetic factors in missed abortion by high-throughput sequencing technique

作　　者：张康 李向利 蒋国庆 ZHANG Kang;LI Xiangli;JIANG Guoqing(Department of Gynecology,the First Hospital of Tsinghua University,Beijing 100016,China;Department of Pathology,the First Hospital of Tsinghua University,Beijing 100016,China)

机构地区：[1]清华大学第一附属医院妇科,北京100016 [2]清华大学第一附属医院病理科,北京100016

出　　处：《中国医药导报》2023年第18期108-111,共4页China Medical Herald

摘　　要：目的采用高通量测序技术对稽留流产绒毛组织遗传因素进行分析。方法回顾性分析2017年6月至2020年6月清华大学第一附属医院因稽留流产行清宫手术的91例患者,对稽留流产绒毛组织进行高通量测序分析,分析绒毛染色体数目改变和拷贝数变异情况。结果91例稽留流产绒毛组织均进行高通量测序,70例(76.08%)染色体异常,其中染色体数目异常39例、嵌合体5例、拷贝数变异26例。拷贝数变异中微重复14例、微缺失6例、混合型6例。结论胚胎染色体异常是稽留流产的主要原因,以非整倍体为主,高通量测序技术拷贝数变异应用于绒毛染色体检测,具有较高敏感性,可增加染色体异常检出率,有助于明确稽留流产病因。Objective To analyze the genetic factors in missed abortion villi tissue by high-throughput sequencing technique.Methods A retrospective analysis was performed on 91 patients who underwent palace clearing operation due to missed abortion in the First Affiliated Hospital of Tsinghua University from June 2017 to June 2020.The abortive villi tissue was analyzed by high-throughput sequencing,and the changes of villus chromosome number and copy number variation were analyzed.Results High-throughput sequencing was performed on the missed abortion villi tissue of 91 cases.A total of 70 cases(76.08%)had chromosome abnormality,including 39 cases with abnormal chromosome number,5 cases with chimera,and 26 cases with copy number variation.There were 14 cases of micro duplication,6 cases of micro deletion,and 6 cases of mixed type.Conclusion Chromosome abnormality of embryo is the main cause of missed abortion,mainly aneuploidy.High-throughput sequencing copy number variation is applied to the detection of villi chromosomes,which has high sensitivity,can increase the detection rate of chromosomal abnormalities,and is helpful to clarify the cause of missed abortion.

关 键 词：稽留流产 绒毛染色体 高通量测序技术 拷贝数变异 

分 类 号：R174.2[医药卫生—妇幼卫生保健]