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Genetic Aetiology Distribution of 398 Foetuses with Congenital Heart Disease in the Prenatal Setting

7 Dec 2022

Abstract excerpt

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...

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PMID: 36478645
DOI: 10.1002/ehf2.14209

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