Neonatal screening for inborn errors of metabolism: cost, yield and outcome

Pollitt RJ, Green A, McCabe CJ, Booth A, Cooper NJ, Leonard JV, Nicholl J, Nicholson P, Tunaley JR, Virdi NK
Record ID 31998008148
Authors' objectives:

To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse the costs and benefits of introducing screening based on a tandem mass-spectrometry (tandem MS) for a wide range of disorders of amino acid and organic acid metabolism in the UK. To evaluate for cystic fibrosis, Duchenne muscular dystrophy and other disorders which are tested on an individual basis.

Authors' recommendations: The existing programmes for phenylketonuria and congenital hypothyroidism should be continued, but consideration should be given to strengthening the organisation by the establishment of a national multidisciplinary forum to give guidance on performance criteria, organisational matters and monitor the impact of introducing new screens. The Welsh scheme for Duchenne muscular dystrophy should be continued on a research basis and the findings used to inform decisions on introducing screening elsewhere. Performance data should be collected from the current UK screening programmes for cystic fibrosis. Expansion of screening for this disease should be encouraged. There appears to be a strong case for introducing tandem MS-based screening. Screening should be limited to clearly-defined diseases where specificity is known to be adequate and there are satisfactory confirmatory tests. Given the technical complexity of the method, the large number of diseases covered, and limited experience of applying tandem MS-based screening to UK populations, a 3-year pilot study is proposed as detailed in the main text of the report.
Project Status: Completed
URL for project:
Year Published: 1997
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: England, United Kingdom
MeSH Terms
  • Amino Acid Metabolism, Inborn Errors
  • Cystic Fibrosis
  • Hypothyroidism
  • Muscular Dystrophies
  • Neonatal Screening
  • Phenylketonurias
Organisation Name: NIHR Health Technology Assessment programme
Contact Address: NIHR Journals Library, National Institute for Health and Care Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK
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Copyright: 2009 Queen's Printer and Controller of HMSO
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.