Extended newborn screening: an update for the general paediatrician

J Paediatr Child Health. 2012 Feb;48(2):E68-72. doi: 10.1111/j.1440-1754.2011.02199.x. Epub 2011 Oct 21.

Abstract

Extended newborn screening (ENBS) with the use of tandem mass spectrometry technology is well established in all Australian states and in New Zealand. ENBS has afforded a marked reduction in morbidity and mortality in select conditions such as medium-chain acyl-CoA dehydrogenase deficiency. While this technology has been of great benefit to newborn screening, it comes with many inherent and unforeseen challenges. In this review, we discuss the successes and challenges associated with ENBS.

Publication types

  • Review

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Brain Diseases, Metabolic / diagnosis*
  • Cost-Benefit Analysis
  • Genetic Testing* / ethics
  • Genetic Testing* / methods
  • Glutaryl-CoA Dehydrogenase / deficiency
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Neonatal Screening / ethics
  • Neonatal Screening / methods*
  • Pediatric Assistants
  • Tandem Mass Spectrometry

Substances

  • Glutaryl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenase

Supplementary concepts

  • Glutaric Acidemia I
  • Medium chain acyl CoA dehydrogenase deficiency