Research Progress on Genetic Factors of Congenital Heart Disease in Fetus

doi:10.12280/gjfckx.20210613

Abstract

Abstract:

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.

Key words: Heart defects,congenital, Fetus, Chromosomes, Aneuploidy, DNA copy number variations, Mutation, Prenatal diagnosis

YAO Xin-yu, LI Feng-jin, QIAO Meng-ru, ZHANG Yu-ping. Research Progress on Genetic Factors of Congenital Heart Disease in Fetus[J]. Journal of International Obstetrics and Gynecology, 2022, 49(1): 77-81.

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