Extended newborn screening: an update for the general paediatrician.
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.
Department of Metabolic Medicine, The Royal Children's Hospital, Brisbane, Queensland, Australia. david_coman@health.qld.gov.au
David
D
Coman
Kaustuv
K
Bhattacharya
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D003362:Cost-Benefit Analysis; D005820:Genetic Testing / Q000941:ethics / Q000379:methods; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D015997:Neonatal Screening / Q000941:ethics / Q000379:methods*; D010370:Pediatric Assistants; D053719:Tandem Mass Spectrometry
D050770:Glutaryl-CoA Dehydrogenase; D042964:Acyl-CoA Dehydrogenase