Extended newborn screening: An update for the general paediatrician

Coman, David and Bhattacharya, Kaustuv (2012) Extended newborn screening: An update for the general paediatrician. Journal of Paediatrics and Child Health, 48 2: E68-E72. doi:10.1111/j.1440-1754.2011.02199.x


Author Coman, David
Bhattacharya, Kaustuv
Title Extended newborn screening: An update for the general paediatrician
Journal name Journal of Paediatrics and Child Health   Check publisher's open access policy
ISSN 1034-4810
1440-1754
Publication date 2012-02
Year available 2011
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1111/j.1440-1754.2011.02199.x
Volume 48
Issue 2
Start page E68
End page E72
Total pages 5
Place of publication Oxford, United Kingdom
Publisher Wiley-Blackwell Publishing
Collection year 2012
Language eng
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.
Keyword Extended newborn screening
False positive
Glutaryl-CoA dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency
Tandem mass spectrometry
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Article first published online: 21 October 2011.

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2012 Collection
School of Medicine Publications
 
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