Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study.

ABSTRACT:

Background

The belief that genetics plays a major role in the pathogenesis of congenital heart defects (CHD) has grown popular among clinicians. Although some studies have focused on the genetic testing of foetuses with CHD in China, the genotype-phenotype relationship has not yet been fully established, and hotspot copy number variations (CNVs) related to CHD in the Chinese population are still unclear. This cohort study aimed to assess the prevalence of chromosomal abnormalities in Chinese foetuses with different types of CHD.

Results

In a cohort of 200 foetuses, chromosomal abnormalities were detected in 49 (24.5%) after a prenatal chromosome microarray analysis (CMA), including 23 foetuses (11.5%) with aneuploidies and 26 (13.0%) with clinically significant CNVs. The add

SUBMITTER: Lu F 

PROVIDER: S-EPMC8729135 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature