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The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

27 Apr 2020

Abstract excerpt

PURPOSE: Congenital heart defects (CHD) are associated with genetic syndromes. Rapid aneuploidy testing and chromosome microarray analysis (CMA) are standard care in fetal CHD. Many genetic syndromes remain undetected with these tests. This cohort study aims to estimate the frequency of causal genetic variants, in particular structural chromosome abnormalities and sequence variants, in fetuses with severe CHD at...

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PMID: 32341573
DOI: 10.1038/s41436-020-0791-8

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