Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.

ABSTRACT:

Aims

Copy number variant-sequencing (CNV-seq) and exome sequencing (ES) have been used as powerful tools in understanding the role of genetic variants in congenital heart diseases (CHDs). A few previous large cohort studies have utilized CNV-seq and ES to investigate prenatally diagnosed CHD. Here, we sought to determine the value of CNV-seq and ES for genetic evaluation of foetal CHDs.

Methods and results

We recruited 398 pregnant women diagnosed with CHDs between 8 January 2017 and 30 November 2020. CNV-seq and ES were performed on foetal and parent samples. CHD cases were classified following the guidelines of the International Paediatric and Congenital Cardiac Code and the Tenth and Eleventh Revisions of the International Classification of Diseases. Data on aneuploids (A

SUBMITTER: Yi T 

PROVIDER: S-EPMC10053168 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature