Long-term outcome of expanded newborn screening at Boston children ’s hospital: benefits and challenges in defining true disease

ConclusionAlthough the NBS-identified and clinically-identified cohorts were not completely comparable, this long-term study shows likely substantial improvement overall in the outcome of these metabolic disorders in the NBS infants. Infants with mild disorders and benign variants may represent a significant number of infants identified by ENBS. The future challenge will be to unequivocally differentiate the disorders most benefitting from ENBS and adjust programs accordingly.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research