Journal
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
Volume 51, Issue 1, Pages 103-107Publisher
WILEY
DOI: 10.1111/jpc.12817
Keywords
choice of disorder; ethical issue; newborn screening; tandem mass spectrometry
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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.
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