Skip Navigation

This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (24)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Thomason, M. J.
Right arrow Articles by Seymour, C. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Thomason, M. J.
Right arrow Articles by Seymour, C. A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1998 Faculty of Public Health Medicine of the Royal Colleges of Physicians of the United Kingdom

research-article

A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism


Margaret J. Thomason, Health Services Research Fellow1,
Joanne Lord, Lecturer in Health Economics2
Murray D. Bain, Consultant Paediatrician1
Ronald A. Chalmers, Professor of Paediatric Metabolism1
Peter Littlejohns, Professor of Public Health2
G. Michael Addison, Consultant Chemical Pathologist3
A. Hervey Wilcox, Consultant Chemical Pathologist4
Carol A. Seymour, Professor of Clinical Biochemistry and Metabolism5

1Department of Child Health, St George's Hospital Medical School London SW17 0RE
2Health Care Evaluation Unit, Department of Public Health Sciences, St George's Hospital Medical School London SW17 0RE
3Royal Manchester Children's Hospital Manchester M27 1HA
4St Helier Hospital Carshalton, Surrey SM5 1AA
5Department of Cardiological Sciences, St George's Hospital Medical School London SW17 0RE


Address correspondence to Dr Margaret Thomason, Health Care Evaluation Unit, Department of Public Health Sciences, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE

BACKGROUND: Developments in screening technology and increased understanding of the natural history and treatment of inborn errors of metabolism (IEMs) have produced pressure to extend neonatal screening programmes. This review aims to assess the evidence for the appropriateness of such programmes.

METHODS: A formal systematic literature review was conducted. Exclusion and inclusion criteria were used to select papers for critical appraisal by pairs of reviewers. Standard criteria were used to assess the appropriateness of neonatal screening for various IEMs. Site visits were conducted to assess new technologies for newborn screening.

RESULTS: A total of 1866 papers were identified and 407 systematically selected for full critical appraisal. Published evidence confirmed that universal newborn screening for phenylketonuria (PKU) meets all of the screening criteria and justifies the expense and infrastructure necessary for the collection and testing of neonatal blood spots. There was insufficient evidence in the literature to assess the cost effectiveness of screening for any other IEMs. There was reasonable evidence to support inclusion in extended neonatal screening of four other IEMs: biotinidase deficiency, congenital adrenal hyperplasia (CAH), medium-chain acyl CoA dehydrogenase (MCAD) deficiency and glutaric aciduria type 1 (GA1).

CONCLUSIONS: Large-scale trials of screening for biotinidase, CAH, MCAD and GA1 should be conducted, with careful evaluation to establish their clinical effectiveness and costeffectiveness in practice. Screening for the latter two disorders would be dependent upon the use of tandem mass spectrometry (tandem MS). The application of tandem MS to newborn screening requires further evaluation. The extension of neonatal screening programmes to other IEMs is not currently justified.

Keywords: neonatal screening, inborn errors of metabolism, mass spectrometry, literature review


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 PediatricsHome page
J. P. Brosco, L. M. Sanders, M. I. Seider, and A. C. Dunn
Adverse Medical Outcomes of Early Newborn Screening Programs for Phenylketonuria
Pediatrics, July 1, 2008; 122(1): 192 - 197.
[Abstract] [Full Text] [PDF]

Home page
 J Biomol ScreenHome page
C. Baumgartner and D. Baumgartner
Biomarker Discovery, Disease Classification, and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism
J Biomol Screen, February 1, 2006; 11(1): 90 - 99.
[Abstract] [PDF]

Home page
 JAMAHome page
S. E. Waisbren, S. Albers, S. Amato, M. Ampola, T. G. Brewster, L. Demmer, R. B. Eaton, R. Greenstein, M. Korson, C. Larson, et al.
Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress
JAMA, November 19, 2003; 290(19): 2564 - 2572.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
D. H. Chace, T. A. Kalas, and E. W. Naylor
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
Clin. Chem., November 1, 2003; 49(11): 1797 - 1817.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. Shevell, S. Ashwal, D. Donley, J. Flint, M. Gingold, D. Hirtz, A. Majnemer, M. Noetzel, and R.D. Sheth
Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society
Neurology, February 11, 2003; 60(3): 367 - 380.
[Abstract] [Full Text] [PDF]

Home page
 Arch Pediatr Adolesc MedHome page
P. G. Brosnan, C. A. Brosnan, S. F. Kemp, D. B. Domek, D. H. Jelley, P. R. Blackett, and W. J. Riley
Effect of Newborn Screening for Congenital Adrenal Hyperplasia
Arch Pediatr Adolesc Med, December 1, 1999; 153(12): 1272 - 1278.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.