胎儿先天性心脏病遗传学病因的研究进展

Research Progress on Genetic Factors of Congenital Heart Disease in Fetus

先天性心脏病(congenital heart disease,CHD)是胎儿出生缺陷中最常见的类型之一,在我国乃至世界范围内位居出生缺陷患儿疾病的首位,其病死率较高,给社会及家庭造成巨大的负担。CHD病因很多,主要为遗传因素和环境因素,其中遗传因素占主要原因。因此,探讨CHD的遗传学病因十分必要,可有效避免CHD患儿出生,降低出生缺陷的发生。遗传因素包括染色体非整倍体异常、染色体拷贝数变异以及单基因遗传病等。随着产前诊断检测技术的发展,染色体核型分析、低深度全基因组测序技术、染色体微阵列分析技术可实现对与胎儿CHD相关的染色体非整倍体异常及微缺失、微重复的检测。全外显子测序技术在产前诊断中的不断发展有助于发现与胎儿CHD相关的致病基因。就胎儿CHD遗传学病因的研究进展进行综述。

Congenital heart disease(CHD)is one of the most common types of fetal birth defects,which ranks first in China and even in the world.Its mortality rate is higher and caused a huge economic burden to the society and family.Its etiology is complex,including genetic factors and environmental factors,among which genetic factors are the most important.Therefore,it is necessary to study the genetic causes of CHD.It can effectively prevent the birth of children with CHD,thereby reducing the occurrence of birth defects.Genetic causes include chromosomal aneuploidy,chromosome copy number variation and single gene inheritance disease,etc.With the development of prenatal diagnostic testing technology,karyotype analysis,low depth of whole genome sequencing and chromosome microarray analysis can achieve detection of chromosomal aneuploidy,microdeletion and microduplication.The development of whole exome sequencing technology in prenatal diagnosis will help us discover pathogenic genes related to fetal CHD.This article will review the research progress on the genetic etiology of fetal congenital heart disease.