Both authors contributed equally to the preparation of this manuscript.
Extended newborn screening: An update for the general paediatrician
Article first published online: 21 OCT 2011
© 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians)
Journal of Paediatrics and Child Health
Volume 48, Issue 2, pages E68–E72, February 2012
How to Cite
Coman, D. and Bhattacharya, K. (2012), Extended newborn screening: An update for the general paediatrician. Journal of Paediatrics and Child Health, 48: E68–E72. doi: 10.1111/j.1440-1754.2011.02199.x
- Issue published online: 9 FEB 2012
- Article first published online: 21 OCT 2011
- Accepted for publication 19 July 2011.
- extended newborn screening;
- false positive;
- Glutaryl-CoA dehydrogenase deficiency;
- medium-chain acyl-CoA dehydrogenase deficiency;
- tandem mass spectrometry
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.