Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects

Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects

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 guideline...

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Veröffentlicht in:The Journal of pediatrics 2023-09, Vol.260, p.113495-113495, Article 113495
Hauptverfasser: Durbin, Matthew D., Fairman, Korre, Helvaty, Lindsey R., Huang, Manyan, Li, Ming, Abreu, Daniel, Geddes, Gabrielle C., Helm, Benjamin M., Landis, Benjamin J., McEntire, Alexis, Mitchell, Dana K., Ware, Stephanie M.
Format: Artikel
Sprache:eng
Schlagworte:
cardiovascular genetics
congenital heart disease
genetic testing
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Zusammenfassung: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. 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. 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 
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2023.113495