Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

ABSTRACT:

Background

Congenital cardiac defects, whether isolated or as part of a larger syndrome, are the most common type of human birth defect occurring on average in about 1% of live births depending on the malformation. As there is an expanding understanding of the underlying molecular mechanisms by which a cardiac defect may occur, there is a need to assess the current rates of diagnosis of cardiac defects by molecular sequencing in a clinical setting.

Methods and results

In this report, we evaluated 34 neonatal and pediatric patients born with a cardiac defect and their parents using exomized preexisting whole genome sequencing (WGS) data to model clinically available exon-based tests. Overall, we identified candidate variants in previously reported cardiac-related genes in 35%

SUBMITTER: Hauser NS 

PROVIDER: S-EPMC5902396 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature