Genetics Clinical Grand Rounds: "Exome sequencing in newborn screening for inborn errors of metabolism"

Newborn screening (NBS) is a public health programme that identifies infants with heritable disorders before the onset of clinical signs, allowing for early and life-saving intervention. Screening for metabolic disorders using tandem mass spectrometry (MS/MS) identifies most affected newborns, along with a large number of false-positive infants.