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Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice

14 Aug 2024

Abstract excerpt

This study aimed to assess the efficiency of CNV-seq and WES in detecting genetic cause of congenital heart disease (CHDs) in prenatal diagnoses and to compare CNV detection rate between isolated and non-isolated CHD cases. We conducted a retrospective study of 118 Chinese fetuses diagnosed with CHD by prenatal ultrasound. Participants underwent CNV-seq and, if necessary, WES to detect chromosomal and single...

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PMID: 39205944
DOI: 10.3389/fgene.2024.1448383

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