J Neuromuscul Dis. 2025 Nov 28:22143602251394481. doi: 10.1177/22143602251394481. Online ahead of print.
ABSTRACT
Congenital disorders are a significant contributor to neonatal intensive care unit (NICU) admissions and neonatal mortality, adding to substantial healthcare costs and emotional burden for families. The introduction of rapid next-generation sequencing (NGS), also known as massively parallel sequencing (MPS), in the NICU has advanced neonatal care by enabling rapid and precise diagnoses. This review explores various NGS technologies utilized in the NICU, their clinical utility, and their role in newborn screening (NBS). It also highlights several challenges hindering its widespread adoption. Addressing these barriers will require a combined effort from all the different stakeholders to ensure fair and responsible integration of NGS into neonatal care.
PMID:41313302 | DOI:10.1177/22143602251394481
