title: Fifty years of newborn screening.
abstract: Newborn screening has evolved fast following recent advances in diagnosis and treatment of disease, particularly the development of multiplex testing and applications of molecular testing. Formal evidence of benefit from newborn screening has been largely lacking, due to the rarity of individual disorders. There are wide international differences in the choice of disorders screened, and ethical issues in both screening and not screening are apparent. More evidence is needed about benefit and harm of screening for specific disorders and renewed discussion about the basic aims of newborn screening must be undertaken.
authors.affiliation: The Children's Hospital at Westmead, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Bridget
authors.initials: B
authors.lastname: Wilcken
authors.forename: Veronica
authors.initials: V
authors.lastname: Wiley
mesh_terms: D001315:Australia; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000266:history; D005060:Europe; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000266:history*; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000266:history; D015997:Neonatal Screening / Q000941:ethics / Q000266:history* / Q000379:methods; D009520:New Zealand; D053719:Tandem Mass Spectrometry / Q000266:history; D014481:United States
keywords: choice of disorder; ethical issue; newborn screening; tandem mass spectrometry