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 …

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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 …

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 …

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 …

What are genes? What do genes do? These seemingly simple questions are in fact
challenging to answer accurately. As a result, there are widespread misunderstandings and …

In a context of increasing international dialogue around the appropriate means and ends of
newborn screening programmes, it is critical to explore the perspectives of those directly …

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 …