Clin Perinatol. 2025 Sep;52(3):609-628. doi: 10.1016/j.clp.2025.06.008. Epub 2025 Jul 23.
ABSTRACT
Newborn screening (NBS) is utilized to identify genetic and other health issues in newborns to decrease morbidity, mortality, and the overall burden of disease to individuals and society by allowing early treatment, often before an infant would have signs or symptoms of a disease. Recently, utilization of genome sequencing (GS) has been proposed as an adjunct to GS for NBS (gNBS). Ongoing research studies focused on gNBS will provide crucial evidence on the appropriate integration of gNBS and traditional NBS.
PMID:40850719 | DOI:10.1016/j.clp.2025.06.008
