Journal of Inherited Metabolic Disease

, Volume 30, Issue 4, pp 439–444 | Cite as

Expanded newborn screening in Europe 2007

  • O. A. Bodamer
  • G. F. Hoffmann
  • M. Lindner
Newborn Screening


By January 2007 seven European countries had expanded, and more are considering the expansion of their newborn screening programmes by inclusion of ESI tandem mass spectrometry. We present an overview of the current status of expanded newborn screening programmes in Europe. While the first pilot programmes were initiated in 1998 in Germany, most countries started within the last 3 years. The number of disorders screened for by MS/MS ranges from two disorders (phenylketonuria and medium-chain acyl-CoA dehydrogenase deficiency) in some countries to 20 in others. The number of live births investigated per screening centre varies from 18 000 to 77 000. Few programmes have reported the number of positively identified cases and technical data, although many participate in quality assurance and proficiency test schemes. Given the relatively common genetic background of most European populations and similar health care systems, the reasons for the differences observed appear arbitrary and contrary to the optimal benefit of this important preventive health measure. Harmonization of disease screening panels, spectrum of metabolites analysed, sizes of screening laboratories, analytical procedures, follow-up management and proficiency and quality testing is urgently warranted on the European level. This will hopefully occur before screening by novel applications of tandem mass spectrometry for additional groups of disorders including lysosomal storage disorders and X-linked adrenoleukodystrophy are implemented.


Tandem Mass Spectrometry Maple Syrup Urine Disease Maple Syrup Urine Disease Glutaric Aciduria Type Newborn Screening Programme 
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  1. Centers for Disease Control and Prevention Quality Assurance and Proficiency Testing.
  2. Danish Serum Staten Institute.
  3. ERNDIM – European Research Network Quality Assurance and Proficiency Testing.
  4. EuroGentest.
  5. French Neonatal Screening Society.
  6. German Neonatal Screening Society.
  7. International Society for Neonatal Screening.
  8. Irish Neonatal Screening Homepage.
  9. Portuguese Neonatal Screening Homepage.
  10. Spanish Neonatal Screening Homepage.
  11. UK Newborn Screening Programm Centre.

Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  1. 1.Division of Biochemical and Pediatric GeneticsUniversity Children’s Hospital ViennaViennaAustria
  2. 2.Division of Inborn Errors of MetabolismUniversity Children’s HospitalHeidelbergGermany
  3. 3.Department of General PediatricsUniversity Children’s Hospital ViennaViennaAustria

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