Posted: Nov 21, 2023
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.
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
S Singh et al, IJNS, April 2023
During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively.
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.
Sarah U Morton et al. JAMA network open 2023 1 (1) e2253191
Are damaging de novo variants in genes not previously associated with neurodevelopmental risk (dDNV-NR) associated with worse neurologic findings in individuals with congenital heart disease (CHD)? In this cross-sectional study of 221 patients with CHD, dDNV-NRs as a group were not associated with neurologic outcomes. In post hoc analyses, dDNVs and rare putative loss-of-function (pLOF) variants, especially in chromatin-modifying genes, were associated with worse neurodevelopmental and brain magnetic resonance imaging (MRI) metrics.