Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years

Wilcken, B; Haas, M; Joy, P; Wiley, V; Bowling, F; Carpenter, K; Christodoulou, J; Cowley, D; Ellaway, C; Fletcher, J; Kirk, EP; Lewis, B; McGill, J; Peters, H; Pitt, J; Ranieri, E; Yaplito-Lee, J; Boneh, A

Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years

Wilcken, B Haas, M

Joy, P Wiley, V Bowling, F Carpenter, K Christodoulou, J Cowley, D Ellaway, C Fletcher, J Kirk, EP Lewis, B McGill, J Peters, H Pitt, J Ranieri, E Yaplito-Lee, J Boneh, A

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Publication Type:: Journal Article
Citation:: Pediatrics, 2009, 124 (2)
Issue Date:: 2009-08-01

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Field	Value	Language
dc.contributor.author	Wilcken, B	en_US
dc.contributor.author	Haas, M https://orcid.org/0000-0002-9726-3063	en_US
dc.contributor.author	Joy, P	en_US
dc.contributor.author	Wiley, V	en_US
dc.contributor.author	Bowling, F	en_US
dc.contributor.author	Carpenter, K	en_US
dc.contributor.author	Christodoulou, J	en_US
dc.contributor.author	Cowley, D	en_US
dc.contributor.author	Ellaway, C	en_US
dc.contributor.author	Fletcher, J	en_US
dc.contributor.author	Kirk, EP	en_US
dc.contributor.author	Lewis, B	en_US
dc.contributor.author	McGill, J	en_US
dc.contributor.author	Peters, H	en_US
dc.contributor.author	Pitt, J	en_US
dc.contributor.author	Ranieri, E	en_US
dc.contributor.author	Yaplito-Lee, J	en_US
dc.contributor.author	Boneh, A	en_US
dc.date.issued	2009-08-01	en_US
dc.identifier.citation	Pediatrics, 2009, 124 (2)	en_US
dc.identifier.issn	0031-4005	en_US
dc.identifier.uri	http://hdl.handle.net/10453/9558
dc.description.abstract	OBJECTIVE: Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clinical outcome at six years of age in Australia. METHODS: In a cohort study, we analyzed the outcome at 6 years for patients detected by screening or by clinical diagnosis among >2 million infants born from 1994 to 1998 (1 017 800, all unscreened) and 1998 to 2002 (461 500 screened, 533 400 unscreened) recording intellectual and physical condition, school placement, other medical problems, growth, treatment, diet, and hospital admissions. Results were analyzed separately for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and other disorders, and grouped patients as those who presented clinically or died in the first 5 days of life; patients presented later or diagnosed by screening, and those with substantially benign disorders. RESULTS: Inborn errors, excluding phenylketonuria, were diagnosed in 116 of 1 551 200 unscreened infants (7.5/100 000 births) and 70 of 461 500 screened infants (15.2/100 000 births). Excluding MCADD, 21 unscreened patients with metabolic disorders diagnosed after 5 days of life died or had a significant intellectual or physical handicap (1.35/100 000 population) compared with 2 of the screened cohort (0.43/100 000; odds ratio: 3.1 [95% CI: 0.73-13.32]). Considering the likely morbidity or mortality among the expected number of never-diagnosed unscreened patients, there would be a significant difference. Growth distribution was normal in all cohorts. CONCLUSION: Screening by tandem mass spectrometry provides a better outcome for patients at 6 years of age, with fewer deaths and fewer clinically significant disabilities. Copyright © 2009 by the American Academy of Pediatrics.	en_US
dc.relation.ispartof	Pediatrics	en_US
dc.relation.isbasedon	10.1542/peds.2008-0586	en_US
dc.subject.classification	Pediatrics	en_US
dc.subject.mesh	Humans	en_US
dc.subject.mesh	Metabolism, Inborn Errors	en_US
dc.subject.mesh	Acyl-CoA Dehydrogenase	en_US
dc.subject.mesh	Neonatal Screening	en_US
dc.subject.mesh	Cause of Death	en_US
dc.subject.mesh	Cohort Studies	en_US
dc.subject.mesh	Longitudinal Studies	en_US
dc.subject.mesh	Cross-Sectional Studies	en_US
dc.subject.mesh	Predictive Value of Tests	en_US
dc.subject.mesh	Developmental Disabilities	en_US
dc.subject.mesh	Child	en_US
dc.subject.mesh	Child, Preschool	en_US
dc.subject.mesh	Infant	en_US
dc.subject.mesh	Infant, Newborn	en_US
dc.subject.mesh	Australia	en_US
dc.subject.mesh	Female	en_US
dc.subject.mesh	Male	en_US
dc.subject.mesh	Tandem Mass Spectrometry	en_US
dc.title	Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years	en_US
dc.type	Journal Article
utslib.citation.volume	2	en_US
utslib.citation.volume	124	en_US
utslib.for	1117 Public Health and Health Services	en_US
utslib.for	11 Medical and Health Sciences	en_US
utslib.for	17 Psychology and Cognitive Sciences	en_US
pubs.embargo.period	Not known	en_US
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Business
pubs.organisational-group	/University of Technology Sydney/Strength - CHERE - Centre for Health Economics Research and Evaluation
utslib.copyright.status	closed_access
pubs.issue	2	en_US
pubs.publication-status	Published	en_US
pubs.volume	124	en_US

Abstract:

OBJECTIVE: Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clinical outcome at six years of age in Australia. METHODS: In a cohort study, we analyzed the outcome at 6 years for patients detected by screening or by clinical diagnosis among >2 million infants born from 1994 to 1998 (1 017 800, all unscreened) and 1998 to 2002 (461 500 screened, 533 400 unscreened) recording intellectual and physical condition, school placement, other medical problems, growth, treatment, diet, and hospital admissions. Results were analyzed separately for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and other disorders, and grouped patients as those who presented clinically or died in the first 5 days of life; patients presented later or diagnosed by screening, and those with substantially benign disorders. RESULTS: Inborn errors, excluding phenylketonuria, were diagnosed in 116 of 1 551 200 unscreened infants (7.5/100 000 births) and 70 of 461 500 screened infants (15.2/100 000 births). Excluding MCADD, 21 unscreened patients with metabolic disorders diagnosed after 5 days of life died or had a significant intellectual or physical handicap (1.35/100 000 population) compared with 2 of the screened cohort (0.43/100 000; odds ratio: 3.1 [95% CI: 0.73-13.32]). Considering the likely morbidity or mortality among the expected number of never-diagnosed unscreened patients, there would be a significant difference. Growth distribution was normal in all cohorts. CONCLUSION: Screening by tandem mass spectrometry provides a better outcome for patients at 6 years of age, with fewer deaths and fewer clinically significant disabilities. Copyright © 2009 by the American Academy of Pediatrics.

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http://hdl.handle.net/10453/9558