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Journal of Inherited Metabolic Disease

, Volume 30, Issue 4, pp 430–438 | Cite as

Neonatal screening in Europe; the situation in 2004

  • J. Gerard Loeber
Newborn Screening

Summary

This report outlines the status of neonatal screening in Europe in 2004. Out of the 45 member states of the Council of Europe plus the regions Scotland and Wales (in total 47 ‘countries’), no data at all were available from 3 (Albania, Azerbaijan and Georgia). From the other 44, varying amounts of data were received. Apart from Armenia, Finland and Malta, all countries have a national programme for phenylketonuria (PKU), although in some countries those programmes do not yet have 100% coverage. Moldova and Ukraine have no national programme for congenital hypothyroidism (CH), the other countries do. Twelve countries screen for congenital adrenal hyperplasia (CAH), 6 for cystic fibrosis (CF) and 7 for galactosaemia (GAL), 6 for biotinidase deficiency (BD) and 4 for medium-chain acyl-CoA dehydrogenase deficiency (MCAD). Some countries have pilot programmes for certain conditions or different programmes per screening laboratory. The prevalences for PKU vary from 1:3000 to 1:30 000, and for CH from 1:1300 to 1:13 000. Methodologies vary within and between countries. There appears to be no relationship between the cut-off limits and the recall rate. A first priority is to help those countries where the basic screening programmes have less than 100% coverage. In addition, continuous monitoring of the European programmes will help to decrease the variation in design and methodology by making use of the knowledge and expertise available from the global membership of the International Society for Neonatal Screening (ISNS). The huge difference of recall rates illustrate one obvious and important area for improvement of programme performances that could be aided by strengthened European cooperation.

Keywords

Cystic Fibrosis Congenital Adrenal Hyperplasia Newborn Screening Phenylketonuria Recall Rate 
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. Loeber JG, Zabransky S (2004) Newborn screening in Europe: results of a survey. Proceedings of the Newborn Screening and Genetic Testing Symposium, Atlanta 2004, 205.Google Scholar
  2. Mikelsaar RV, Zordania R, Viikmaa M, Kudrjavtseva G (1998) Neonatal screening for congenital hypothyroidism in Estonia. J Med Screen 5: 20–21.PubMedGoogle Scholar
  3. Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR (American College of Medical Genetics Newborn Screening Expert Group) (2006) Newborn screening: Toward a uniform screening panel and system—Executive summary. Pediatrics 117: S296–S307.Google Scholar
  4. Zabransky S (2002) Newborn screening for endocrine and metabolic diseases in Europe 2000. Screening J 2: 1–14.Google Scholar

Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  1. 1.International Society for Neonatal ScreeningNational Institute for Public HealthBilthovenThe Netherlands
  2. 2.International Society for Neonatal ScreeningNational Institute for Public Health (RIVM)BilthovenThe Netherlands

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