Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects

Matthew D. Durbin, Korre Fairman, Lindsey R. Helvaty, Manyan Huang, Ming Li, Daniel Abreu, Gabrielle C. Geddes, Benjamin M. Helm, Benjamin J. Landis, Alexis McEntire, Dana K. Mitchell, Stephanie M. Ware

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Objective: To evaluate genetic evaluation practices in newborns with the most common birth defect, congenital heart defects (CHD), we determined the prevalence and the yield of genetic evaluation across time and across patient subtypes, before and after implementation of institutional genetic testing guidelines. Study design: This was a retrospective, cross-sectional study of 664 hospitalized newborns with CHD using multivariate analyses of genetic evaluation practices across time and patient subtypes. Results: Genetic testing guidelines for hospitalized newborns with CHD were implemented in 2014, and subsequently genetic testing increased (40% in 2013 and 75% in 2018, OR 5.02, 95% CI 2.84-8.88, P < .001) as did medical geneticists’ involvement (24% in 2013 and 64% in 2018, P < .001). In 2018, there was an increased use of chromosomal microarray (P < .001), gene panels (P = .016), and exome sequencing (P = .001). The testing yield was high (42%) and consistent across years and patient subtypes analyzed. Increased testing prevalence (P < .001) concomitant with consistent testing yield (P = .139) added an estimated 10 additional genetic diagnoses per year, reflecting a 29% increase. Conclusions: In patients with CHD, yield of genetic testing was high. After implementing guidelines, genetic testing increased significantly and shifted to newer sequence-based methods. Increased use of genetic testing identified more patients with clinically important results with potential to impact patient care.

Original languageEnglish
Article number113495
JournalJournal of Pediatrics
StatePublished - Sep 2023


  • cardiovascular genetics
  • congenital heart disease
  • genetic testing


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