拷贝数变异测序在稽留流产遗传学检测中的应用  

Application of copy number variation sequencing in genetic detection of missed abortion

作　　者：覃颖 毛锦江[1] 钟文富 QIN Ying;MAO Jing-jiang;ZHONG Wen-fu(Department of Obstetrics,Guigang People's Hospital,Guigang 537100,Guangxi,CHINA;Department of Clinical Laboratory,Guigang People's Hospital,Guigang 537100,Guangxi,CHINA)

机构地区：[1]贵港市人民医院产科,广西贵港537100 [2]贵港市人民医院检验科,广西贵港537100

出　　处：《海南医学》2023年第8期1148-1151,共4页Hainan Medical Journal

基　　金：广西贵港市科学技术局项目(编号:2000042)。

摘　　要：目的探讨拷贝数变异测序(CNV-seq)技术在研究早期稽留流产原因中的应用价值。方法选取2020年1月至2021年12月在贵港市人民医院就诊的220例稽留流产患者,对其绒毛/胎儿组织进行拷贝数变异测序(CNV-Seq),分析稽留流产与染色体异常的相关性。结果220例稽留流产标本中,成功检测215例,成功率为97.73%。结果检出染色体异常140例(65.28%),染色体正常75例(34.72%)。染色体异常中,数目异常型113例(80.71%),最为常见,其中三体型82例(58.57%),X单体型13例(9.29%),三倍体18例(12.86%)。嵌合体13例(6.05%),染色体片段缺失/重复14例(6.51%)。孕妇年龄≥35岁组发生染色体异常率为72.58%,略高于孕妇年龄<35岁组的62.09%,但差异无统计学意义(P>0.05)。结论CNV-seq对流产物的遗传学诊断具有明确的应用价值,染色体数目异常是导致早期流产最常见的原因之一,对再生育指导具有重要意义。Objective To explore the application value of copy number variation sequencing(CNV-seq)technology in studying the causes of early missed abortion.Methods A total of 220 patients of missed abortion admitted to Guigang People's Hospital from January 2020 to December 2021 were selected.CNV-Seq was performed on the villus/fetal tissue of the patients to analyze the correlation between missed abortion and chromosomal abnormalities.Results Among the 220 patients,215 were detected successfully,with a success detection rate of 97.73%,including 140 cases(65.28%)of chromosomal abnormalities and 75 cases(34.72%)of normal chromosomes.Among the 140 cases of chromosomal abnormalities,113(80.71%)were of numeral abnormalities of chromosome,including 82(58.57%)of trisomy,13(9.29%)of X haplotype,and 18(12.86%)of triploidy.There were 13 cases(6.05%)of mosaicism and 14 cases(6.51%)of chromosomal segment deletion/duplication.The chromosomal abnormality rate of pregnant women aged≥35 years was 72.58%,slightly higher than 62.09%in pregnant women<35 years old(P>0.05).Conclusion CNV-seq is of great value in the genetic diagnosis of aborted products.Chromosome number abnormality is one of the most common causes of early abortion,which is of great significance for the guidance of reproduction.

关 键 词：稽留流产 绒毛 核型 拷贝数变异测序 下一代测序 

分 类 号：R714.21[医药卫生—妇产科学]