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Extended newborn screening: an update for the general paediatrician

David Coman1, Kaustuv Bhattacharya

  • 1Department of Metabolic Medicine, The Royal Children's Hospital, Brisbane, Queensland, Australia. david_coman@health.qld.gov.au

Journal of Paediatrics and Child Health
|October 25, 2011
PubMed

Insights

Extended newborn screening (ENBS) using tandem mass spectrometry has reduced infant morbidity and mortality. This review examines the successes and challenges of ENBS programs in Australia and New Zealand.

Area of Science:

  • Biochemistry
  • Genetics
  • Public Health

Background:

  • Extended newborn screening (ENBS) is implemented nationwide in Australia and New Zealand.
  • Tandem mass spectrometry is the core technology enabling ENBS.

Purpose of the Study:

  • To review the successes of ENBS in reducing infant morbidity and mortality.
  • To discuss the inherent and unforeseen challenges associated with ENBS.

Main Methods:

  • Review of existing literature and program data on ENBS.
  • Analysis of outcomes for specific screened conditions, e.g., medium-chain acyl-CoA dehydrogenase deficiency.

Main Results:

  • ENBS has significantly reduced morbidity and mortality for certain inherited metabolic disorders.
  • Implementation of ENBS presents various logistical and clinical challenges.

Conclusions:

  • ENBS is a valuable public health tool with proven benefits.
  • Addressing the challenges of ENBS is crucial for optimizing its effectiveness and sustainability.

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