低深度全基因组测序技术在产前诊断中的研究进展  

Research Progress of Copy Number Variation Sequencing in Prenatal Diagnosis

作　　者：李奉瑾 姚欣雨 张玉萍(审校)[2] LI Feng-jin;YAO Xin-yu;ZHANG Yuping(Graduate School,Shanxi Medical University,Taiyuan 030000,China;Prenatal Diagnosis Center,Maternal and Child Health Care Hospital of Shanxi Province,Taiyuan 030000,China)

机构地区：[1]山西医科大学研究生学院,太原030000 [2]山西省妇幼保健院产前诊断中心

出　　处：《国际妇产科学杂志》2021年第1期75-78,83,共5页Journal of International Obstetrics and Gynecology

摘　　要：先天性心脏病、多指(趾)、唇裂、先天性脑积水及马蹄内翻足在出生缺陷患儿疾病中位居前5位,有报告指出上述疾病的发生与染色体的微缺失、微重复异常有关。产前诊断是预防出生缺陷的主要手段,是在胎儿出生前利用先进技术对胎儿的先天性疾病进行诊断。研究表明低深度全基因组测序技术(copy number variation sequencing,CNV-seq)可对产前染色体微缺失、微重复异常进行诊断,将染色体异常的检出率增加至2.8%。CNV-seq技术是在高通量测序基础上发展的全基因组测序技术,其检测范围广、分辨率高,可检测全基因组水平的微缺失、微重复异常,已逐步应用于胎儿先天性疾病及流产组织遗传学病因的检测,还可用于明确未知来源的染色体畸变。综述CNV-seq技术在产前诊断中的研究进展。It′s reported that congenital heart disease,polydactyly(toe),cleft lip,congenital hydrocephalus and clubfoot rank among the top five in birth defects.Chromosomal microdeletions and microduplications are related to these diseases.Prenatal diagnosis is the main mean to prevent birth defects,which is to use advanced technology to diagnose fetal congenital diseases before birth.Research has shown that copy number variation sequencing(CNV-seq)can diagnose prenatal chromosomal microdeletions and microduplications.It increased the detection rate of chromosomal abnormalities to 2.8%.CNV-seq is a whole genome sequencing technology developed based on high-throughput sequencing.It has a wide range of detection and high resolution,it covers genomewide microdeletion and microduplication abnormalities.It has been gradually applied to the detection of fetal congenital diseases and abortion tissues.It can also be used to identify chromosomal abnormalities of unknown origin.The paper reviews the research progress of CNV-seq in prenatal diagnosis.

关 键 词：低深度全基因组测序技术 产前诊断 染色体缺失 染色体重复 DNA拷贝数变异 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]