基于低深度全基因拷贝数变异测序(CNV-Seq)的稽留流产发生次数及年龄分析  

Analysis of missed abortion frequency and age based on copy number variation sequencing(CNV-Seq)

作　　者：陈惠英[1] 范舒舒[1] 徐静[1] 曾丹 苗淑红 龙梅 汪成 林莉 江玫玫 Chen Huiying;Fan Shushu;Xu Jing;Zeng Dan;Miao Shuhong;Long Mei;Wang Cheng;Lin Li;Jiang Meimei(Reproductive genetic center of North CGnangdong People's Hospital,Shaoguan,Crnangdong 512000,China)

机构地区：[1]粤北人民医院生殖遗传中心,广东韶关512000

出　　处：《中国产前诊断杂志（电子版）》2022年第4期23-27,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广东省韶关市卫生健康科研项目(Y21124)。

摘　　要：目的应用低深度全基因组拷贝数变异测序(copy number variation sequencing,CNV-Seq)检测稽留流产物(绒毛/胎儿组织)染色体,探讨胎儿绒毛/组织染色体异常与稽留流产发生次数及年龄的关系。方法应用CNV-Seq技术,对2019年2月至2021年2月在粤北人民医院妇产科就诊的208例稽留流产物(绒毛/胎儿组织)进行染色体检查。按流产次数、流产发生年龄进行分组:其中初次稽留流产76例,≥2次稽留流产127例;发生流产年龄<35岁151例,≥35岁52例。分析不同流产次数的染色体异常情况、不同年龄段染色体异常情况。结果在208例稽留流产标本中成功检测203例,检测成功率为97.60%。检出染色体异常107例,异常率为52.71%;其中初次稽留流产的染色体异常40例,异常率为52.63%,≥2次稽留流产的染色体异常67例,异常率为52.75%,<35岁的染色体异常70例,异常率为46.36%,≥35岁的染色体异常37例,异常率71.15%。初次稽留流产与≥2次稽留流产的染色体异常率比较差异无统计学意义(χ^(2)=0.00,P=1.00),<35岁与≥35岁稽留流产的染色体异常率比较差异有统计学意义(χ^(2)=9.54,P=0.01)。结论CNV-Seq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。染色体异常是稽留流产发生的主要原因,复发性流产的染色体异常发生率未见显著增加,高龄显著增加稽留流产染色体异常发生率。Objective To detect the chromosome of missed abortion(villi/fetal tissue)by copy number variation sequencing(CNV-Seq),and to explore the relationship between chromosome abnormalities of fetal villi/tissue and the frequency and age of missed abortion.Methods Using CNV-Seq technique,208 missed abortions(villi/fetal tissue)from February 2019 to February 2021 in the Department of Obstetrics and Gynecology of the People’s Hospital of Northern Guangdong were examined for chromosomes.According to the number of abortions and the age of abortion:76 cases of first missed abortion and 127 cases of≥2 missed abortions;The age of abortion was less than 35 years in 151 cases and≥35 years in 52 cases.The chromosome abnormalities of different abortion times and different age groups were analyzed.Results 203 of 208 missed abortion samples were successfully detected,and the success rate was 97.60%.The detection rate of chromosome abnormality was 107 cases(52.71%);Among them,there were 40 cases of chromosomal abnormalities in the first missed abortion(52.63%),67 cases of chromosomal abnormalities in≥2 missed abortions(52.75%),70 cases of chromosomal abnormalities under 35 years old(46.36%),and 37 cases of chromosomal abnormalities≥35 years old(71.15).There was no significant difference in the chromosome abnormality rate between the first missed abortion and≥2 missed abortions(χ^(2)=0.00,P=1.00),and there was significant difference in the chromosome abnormality rate between missed abortions under 35 years old and≥35 years old(χ^(2)=9.54,P=0.01).Conclusion CNV-Seq technology is helpful to find out the genetic causes of missed abortion and is of great significance to the guidance of reproduction.Chromosome abnormality is the main cause of missed abortion.The incidence of chromosome abnormality in recurrent abortion has not increased significantly,and the incidence of chromosome abnormality in missed abortion has increased significantly in old age.

关 键 词：稽留流产 拷贝数变异测序 遗传学异常 流产次数 年龄 

分 类 号：R715.5[医药卫生—妇产科学]