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Last Posted: Mar 21, 2024
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Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Thomas Hays et al. Circ Genom Precis Med 2023 7 e004050

We conducted a prospective evaluation of rGS to improve the care of infants with complex CHD in our cardiac neonatal intensive care unit. In a cohort of 48 infants with complex CHD, rGS diagnosed 14 genetic disorders in 13 (27%) individuals and led to changes in clinical management in 8 (62%) cases with diagnostic results. These included 2 cases in whom genetic diagnoses helped avert intensive, futile interventions before cardiac neonatal intensive care unit discharge, and 3 cases in whom eye disease was diagnosed and treated in early childhood.

A Multicenter Cross-Sectional Study in Infants with Congenital Heart Defects Demonstrates High Diagnostic Yield of Genetic Testing but Variable Evaluation Practices
MD Durbin et al, Genet in Med Open, May 2023

A multicenter cross-sectional study of five large children’s hospitals, including 2899 children = 14 months undergoing surgical repair for CHD in 2013-2016, followed by multivariate logistics regression analysis. Genetic testing occurred in 1607 of 2899 patients (55%). Testing rates differed highly between institutions (42% - 78%, p< 0.001). Choice of testing modality also differed across institutions (i.e., chromosomal microarray, 26% - 67%, p< 0.001). Genetic testing was abnormal in 702 of 1607 patients (44%) and no major phenotypic feature drove diagnostic yield. Only 849 patients were seen by geneticists (29%).

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