Published online July 20, 2009
PEDIATRICS Vol. 124 No. 2 August 2009, pp. e241-e248 (doi:10.1542/peds.2008-0586)

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ARTICLE

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Bridget Wilcken, MD^a,b, Marion Haas, PhD^c, Pamela Joy, PhD^d,e, Veronica Wiley, PhD^b,f, Francis Bowling, MBBS, PhD^g,h, Kevin Carpenter, PhD^a,b, John Christodoulou, MBBS, PhD^b,i, David Cowley, MBChB^h,j, Carolyn Ellaway, MBBS, PhD^b,i, Janice Fletcher, MD^k,l, Edwin P. Kirk, MBBS, PhD^m,n, Barry Lewis, MD^o, Jim McGill, MBBS^h,p, Heidi Peters, MBBS, PhD^q,r, James Pitt, PhD^q,r, Enzo Ranieri, BSc^k, Joy Yaplito-Lee, MD^q and Avihu Boneh, MD, PhD^q,r

Departments of ^a Biochemical Genetics
^d Psychological Medicine
^f Newborn Screening
ⁱ Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia
^b Department of Pediatrics, University of Sydney, Sydney, Australia
^c Center for Health Economics Research and Evaluation, University of Technology, Sydney, Australia
^e Macquarie Centre for Cognitive Science, Macquarie University, Sydney, Australia; Departments of
^g Medical Genetics
^j Clinical Chemistry, Mater Hospital, Brisbane, Australia
^h Department of Paediatrics and Child Health, University of Queensland, Brisbane, Australia
^k Department of Genetics, Adelaide Women's and Children's Hospital, Adelaide, Australia
^l Department of Medicine, University of Adelaide, Adelaide, Australia
^m Department of Medical Genetics, Sydney Children's Hospital, Randwick, Australia
ⁿ School of Womens’ and Childrens’ Health, University of New South Wales, Sydney, Australia
^o Department of Clinical Chemistry, Princess Margaret Hospital, Perth, Australia
^p Department of Paediatrics, Royal Children's Hospital, Brisbane, Australia
^q Metabolic Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia
^r Department of Paediatrics, University of Melbourne, Melbourne, Australia

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.

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Key Words: neonatal screening • tandem mass spectrometry • outcome assessment • health care

Abbreviations: CoA—coenzyme A • MCADD—medium-chain acyl-CoA dehydrogenase deficiency • MS/MS—tandem mass spectrometry • CI—confidence interval • OR—odds ratio

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Accepted Mar 25, 2009.

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