Journal of Shanghai Jiao Tong University (Medical Science) ›› 2022, Vol. 42 ›› Issue (10): 1498-1503.doi: 10.3969/j.issn.1674-8115.2022.10.017

• Review • Previous Articles    

Status and prospect of prenatal genetic diagnosis of fetal congenital heart disease

LI Min(), WU Yi, CHENG Weiwei()   

  1. Department of Obstetrics, The International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Key Laboratory of Embryo Original Diseases; Institute of Birth Defects and Rare Diseases, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China
  • Received:2022-03-07 Accepted:2022-09-06 Online:2022-10-28 Published:2022-12-02
  • Contact: CHENG Weiwei;wwcheng29@


Congenital heart disease (CHD) is diagnosed as the birth defect that causes heart or blood vessel structure abnormality due to genetic or environmental factors, leading to cardiac dysfunction. It is the most common disease among birth defects in China recently, and its incidence is increasing year by year, seriously affecting the health of newborns, especially for some complicated CHD fetuses. The birth survival rate is very low, and surgical interventions are necessary, which bring heavy psychological and economic burden to the families of fetuses, and seriously affect the aristogenesis and aristogenesis in China. The etiology of CHD is complex. Nowadays, it is believed that the occurrence of CHD is closely related to genetic and environmental factors. Some studies showed that genetic factors were the main causes of CHD, and approximately one of ten fetuses with CHD were related to genetic inheritance. Therefore, prenatal diagnosis to investigate the genetic causes of fetal CHD is crucial for evaluating fetal prognosis. In recent years, more and more studies at home and abroad have focused on the genetic etiology of congenital heart disease. Relevant review articles published in China only focused on the progress of certain genetic testing techniques for the detection of chromosomal abnormalities of CHD, and there is still a lack of comprehensive summary of various prenatal genetic testing techniques on the detection of genetic causes of CHD. This article reviews and prospects various genetic testing techniques for CHD.

Key words: congenital heart disease (CHD), prenatal diagnosis, chromosomal microarray analysis, whole exome sequencing

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