高通量测序检测流产组织染色体异常对治疗复发性流产的意义  

High-throughput sequencing for detection of abortion tissue chromosomes in the treatment of recurrent spontaneous abortion

作　　者：何建萍[1] 唐健 钱源 秦茂华[1] 罗胜军[1] 吕梦欣 He Jianping;Tang Jian;Qian Yuan;Qin Maohua;Luo Shengjun;Lv Mengxin(Department of Medical Genetics and Prenatal Diagnosis,Kunming Maternal and Child Care Hospital,Kunming 650031,Yunnan,China;Yunnan Provincial Key Laboratory of Medicine,First Affiliated Hospital of Kunming Medical University,Kunming 650032,Yunnan,China)

机构地区：[1]昆明市妇幼保健院医学遗传与产前诊断科,云南昆明650031 [2]昆明医科大学第一附属医院云南省检验医学重点实验室,云南昆明650032

出　　处：《贵州医药》2022年第2期177-179,共3页Guizhou Medical Journal

基　　金：国家自然科学基金项目(81760273);昆明市重点项目(2019-1-S-25318000001330)。

摘　　要：目的探讨高通量测序在检测复发性流产染色体异常中对其临床治疗的应用价值。方法收集207例复发性流产组织,通过高通量测序技术对其进行分析。同时对召回的夫妇双方进行外周血染色体核型分析。结果207例流产组织中检出染色体异常114例,所占比例为55.1%。染色体异常类型包括58例染色体三体,18例X0单体,23例片段缺失或重复的染色体,8例三倍体及7例46,XY/46,XX嵌合。召回69对夫妇外周血中染色体异常共计9对,染色体异常率约为13%。结论染色体异常是造成复发性流产的主要原因。遗传因素对复发性流产存在一定的影响。高通量测序可全面、快速地检测包括微缺失或微重复的染色体异常,有效查明复发性流产的遗传因素,为流产夫妇再次妊娠提供遗传咨询和临床指导。Objective To investigate the application value of using high-throughput sequencing in the detection of chromosomal abnormalities for recurrent spontaneous abortion.Methods A total of 207 recurrent abortion tissues were collected and analyzed by high-throughput sequencing.And Peripheral karyotype analysis was performed on recalled parties.Results Among the 207 cases of abortion,114 cases were found to have chromosomal abnormalities,and accounting for 55.1%.Types of chromosomal abnormalities included 58 trisomy,18 X0 monomer,23 loss or repetition of fragments,8 triploids and 7 case 46,XX/46,XY chimerism.A total of 9 pairs of chromosomal abnormalities in peripheral blood of 69 recalled couples,and the chromosomal ab-normal rate were about 13%.Conclusion Chromosomal abnormalities are the main cause of recurrent spontaneous abortion.And genetic factors have a certain impact on recurrent abortion.High-throughput sequencing could rapidly discover more comprehensively chromosomal abnormalities including micro-deletions or micro-duplications,effectively identify recurrent spontaneous abortion caused by genetic factors,and provide genetic counseling and clinical advice for re-pregnancy.

关 键 词：高通量测序 染色体异常 复发性流产 

分 类 号：R715[医药卫生—妇产科学]