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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

Summary

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.

Keywords

Tandem Mass Spectrometry Maple Syrup Urine Disease Maple Syrup Urine Disease Glutaric Aciduria Type Newborn Screening Programme 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

 

  1. Bodamer OA, Mühl A (2005) Analysis of acylcarnitine ester for the diagnosis of inborn errors of metabolism using tandem mass-spectrometry. Chem Month 136: 1293–1297.CrossRefGoogle Scholar
  2. Chace DH, Millington DS, Tereda N, Kahler SG, Roe CR, Hofman LF (1993) Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 39: 66–71.PubMedGoogle Scholar
  3. Chace DH, Hillman SL, Millington DS, et al (1995) Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 41: 62–68.PubMedGoogle Scholar
  4. Chace DH, Kalas TA, Naylor EW (2003) Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 49: 1797–1817.PubMedCrossRefGoogle Scholar
  5. Gelb MH, Turecek F, Scott CR, Chamoles NA (2006) Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 29: 397–404.PubMedCrossRefGoogle Scholar
  6. Guthrie R, Susie A (1963) A simple phenylalanine method for detecting PKU in large populations of newborn infants. Pediatrics 32: 338–343.PubMedGoogle Scholar
  7. Hoffmann GF, v Kries R, Klose D, et al (2004) Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transportation and oxidation in Germany. Eur J Pediatr 163: 76–80.PubMedCrossRefGoogle Scholar
  8. Holub M, Tuschl K, Ratschmann R, et al (2006) Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry. Clin Chim Acta 373: 27–31.PubMedCrossRefGoogle Scholar
  9. Hubbard WC, Moser AB, Tortorelli S, Liu A, Jones D, Moser H (2006) Combined liquid-chromatography tandem mass spectrometry as an analytical method for high-throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol Genet Metab 89: 185–187.PubMedCrossRefGoogle Scholar
  10. Kölker S, Garbade SF, Greenberg CR, et al (2006) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59: 840–847.PubMedCrossRefGoogle Scholar
  11. Maier EM, Liebl B, Röschinger W, et al (2005) Population screening of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat 25: 443–452.PubMedCrossRefGoogle Scholar
  12. Marsden D, Larson C, Levy HL (2006) Newborn screening for metabolic disorders. J Pediatr 148: 577–584.PubMedCrossRefGoogle Scholar
  13. Millington DS, Kodo N, Norwood DL, Roe CR (1990) Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 13: 321–324.PubMedCrossRefGoogle Scholar
  14. Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111: 1399–1406.PubMedCrossRefGoogle Scholar
  15. Stadler SC, Polanetz R, Maier EM, et al (2006) Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat 27: 748–759.PubMedCrossRefGoogle Scholar
  16. Strnadova K, Holub M, Muhl A, et al (2007) Long-term stability of amino acids and acylcarnitines in dried blood spots used for neonatal screening by tandem mass spectrometry. Clin Chem 53: 717–722.PubMedCrossRefGoogle Scholar
  17. Waisbren SE, Albers S, Amato S, et al (2003) Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 290: 2564–2572.PubMedCrossRefGoogle Scholar
  18. Walter JH (2003) Arguments for early screening: a clinician’s perspective. Eur J Pediatr 162(Supplement 1): S2–S4.PubMedCrossRefGoogle Scholar
  19. Wilcken B, Wiley V, Hammond J, Carpenter K (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348: 2304–2312.PubMedCrossRefGoogle Scholar
  20. Wilson JMG, Jungner G (1968) Principles and Practice of Screening for Disease. Public Health Papers No.34. Geneva: World Health Organization.Google Scholar

Websites

  1. Centers for Disease Control and Prevention Quality Assurance and Proficiency Testing. www.cdc.gov/nceh/dls/newborn_screening.htm
  2. Danish Serum Staten Institute. www.ssi.dk
  3. ERNDIM – European Research Network Quality Assurance and Proficiency Testing. www.erndimqa.nl
  4. EuroGentest. www.eurogentest.org
  5. French Neonatal Screening Society. www.afdphe.asso.fr
  6. German Neonatal Screening Society. www.screening-dgns.de
  7. International Society for Neonatal Screening. www.isns-neoscreening.org
  8. Irish Neonatal Screening Homepage. www.nnsp.ie/index_new.html
  9. Portuguese Neonatal Screening Homepage. www.diagnosticoprecoce.org
  10. Spanish Neonatal Screening Homepage. www.seqc.es/cemc
  11. UK Newborn Screening Programm Centre. www.newbornscreening-bloodspot.org.uk

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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