Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects
Matthew D. Durbin,
Lindsey R. Helvaty,
Alyx Posorske
et al.
Abstract:Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic etiology and recent studies demonstrate utility in genetic testing. In clinical practice, decisions around genetic testing choices continue to evolve, and the incorporation of rapid genome sequencing (rGS) in CHD has not been well studied. Though smaller studies demonstrate the value of rGS, they also highlight the burden of results interpretation. We analyze genetic testing in CHD a… Show more
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