基于全基因组测序技术的早期及晚期稽留流产遗传学分析  

Genetic analysis on early and late missed abortion based on whole genome sequencing technique

作　　者：陈惠英[1] 范舒舒[1] 许红雁[2] 彭红梅 张浔[2] 黄笑英[2] CHEN Huiying;FAN Shushu;XU Hongyan;PENG Hongmei;ZHANG Xun;HUANG Xiaoying(Reproductive Genetics Center,North Guangdong People's Hospital,Guangdong Shaoguan 512000,China;Department of Obstetrics and Gynecology,North Guangdong People's Hospital,Guangdong Shaoguan 512000,China)

机构地区：[1]粤北人民医院生殖遗传中心,广东韶关512000 [2]粤北人民医院妇产科,广东韶关512000

出　　处：《中国妇幼健康研究》2020年第10期1359-1362,共4页Chinese Journal of Woman and Child Health Research

摘　　要：目的应用全基因组测序(WGS)技术检测稽留流产绒毛/胎儿组织染色体,探讨其在早期及晚期稽留流产遗传学原因分析中的应用价值。方法应用WGS技术,对2018年9月至2019年10月在粤北人民医院妇产科就诊的188例稽留流产绒毛/胎儿组织进行染色体检查。按孕周分组,早期稽留流产(<12周)138例,晚期稽留流产(≥12周)44例,分析早期及晚期稽留流产染色体异常的类型及分布特点。结果在188例稽留流产标本中成功检测182例,成功率为96.81%。检出染色体异常93例,异常率为51.10%;其中早期稽留流产的染色体异常79例,异常率为57.25%,早期稽留流产染色体异常包括数目异常65例(占82.28%)、嵌合体10例(占12.66%)、染色体片段缺失/重复4例(占5.06%);晚期稽留流产的染色体异常14例,异常率为31.82%,其均为染色体数目异常。早期稽留流产与晚期稽留流产的染色体异常率比较差异有统计学意义(χ^2=8.63,P=0.00)。结论染色体异常是早期稽留流产发生的主要原因,也是晚期稽留流产的原因之一。WGS技术有助于查找稽留流产的遗传学原因,对再生育指导有重要意义。Objective Using whole genome sequencing(WGS)technique to detect the chromosome of villi/fetal tissue of missed abortion,to explore its application value in the genetic analysis of missed abortion in early and late stage.Methods Whole genome sequencing was used to examine the chromosomes in villi/fetal tissues of 188 cases with missed abortion and admitted to North Guangdong People’s Hospital from September 2018 to October 2019.According to gestational weeks,all of them were divided into early missed abortion(<12 weeks)and late missed abortion(≥12 weeks),type and distribution characteristics of chromosomal abnormalities of early and late missed abortion were analyzed.Results Among 188 aborted specimens,182 were detected successfully,with a success rate of 96.81%.Chromosome abnormality was detected in 93 cases,with an abnormal of 51.10%.Among them,79 cases of chromosome abnormality in early missed abortion were found,with an abnormal rate of 57.25%.Chromosome abnormalities in early missed abortions included 65 cases of number abnormalities(82.28%),10 cases of chimera(12.66%)and 4 cases of chromosomal deletion/duplication(5.06%).There were 14 cases of chromosomal abnormalities in late delayed abortion,with an abnormal rate of 31.82%,all of them were chromosomal number abnormalities.The difference of chromosomal abnormality rate between early and late missed abortion was statistically significant(χ^2=8.63).Conclusion Chromosome abnormality is the main cause of early missed abortion,and one of the causes of late missed abortion.WGS technology is helpful to find the genetic causes of missed abortion,which has important significance for the guidance of reproduction.

关 键 词：稽留流产 全基因组测序 遗传学原因 染色体异常 

分 类 号：R714.21[医药卫生—妇产科学]