Genomic advances have contributed to a proliferation of newborn screening (NBS)
programs. Psychosocial consequences of NBS have been identified as risks to these public …

Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable
incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways …

Newborn screening: a review of history, recent advancements,... : Current Opinion in Pediatrics
Newborn screening: a review of history, recent advancements, and future perspectives in the …

Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly
successful procedure in secondary prevention. For a number of congenital disorders, severe …

Improved second‐tier assays are needed to reduce the number of false positives in newborn
screening (NBS) for inherited metabolic disorders including those on the Recommended …

Newborn screening aims to achieve early presymptomatic diagnosis of treatable disorders
for which timely intervention is critical to improve the outcome. Many of the conditions …

Background Public health newborn screening (NBS) programs continuously evolve, taking
advantage of international shared learning. NBS for severe combined immunodeficiency …

As whole genome sequencing is being considered as a tool to deliver expanded newborn
screening (NBS) globally, the range of equivocal results it could produce are gaining …

Cystic fibrosis (CF) is a complex multiorgan disorder that is among the most common fatal
genetic diseases benefiting from therapeutic interventions early in life. Newborn screening …

Phenylketonuria (PKU) was the first disease to be identified by the newborn screening
(NBS) program. Currently, there are various methods for determining phenylalanine (Phe) …