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Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next‐generation sequencing

2 Feb 2016

Abstract excerpt

OBJECTIVE: To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD: Chromosomal aneuploidies and submicroscopic copy number variations (CNVs) were identified in amniocytes DNA samples from CHD fetuses using...

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PMID: 26833920
DOI: 10.1002/pd.4782

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