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Article

Prenatal exome sequencing in fetuses with congenital heart defects

15 May 2020

Abstract excerpt

The genetic diagnosis of congenital heart defects (CHDs) is challenging because of genetic and phenotypic heterogeneity. The aim of our study was to evaluate the clinical value of whole exome sequencing (WES) in the prenatal diagnosis of CHDs in a large cohort. Trio-based WES was performed in 260 fetuses with CHDs negative for karyotype and chromosome microarray analysis results. WES produced a diagnostic yield...

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PMID: 32410215
DOI: 10.1111/cge.13774

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