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Expanded newborn screening in Europe 2007.

O A Bodamer1, G F Hoffmann, M Lindner

  • 1Division of Biochemical and Pediatric Genetics, University Children's Hospital Vienna, Vienna, Austria. olaf.bodamer@meduniwien.ac.at

Journal of Inherited Metabolic Disease
|July 24, 2007
PubMed
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European countries are expanding newborn screening programs using tandem mass spectrometry, but significant variations exist in screened disorders and lab practices. Harmonization is crucial for optimal public health benefits.

Area of Science:

  • Biochemistry
  • Public Health
  • Genetics

Background:

  • Expanded newborn screening programs are increasingly adopted across Europe, with seven countries implementing tandem mass spectrometry by 2007.
  • The first pilot programs began in Germany in 1998, but most European countries initiated their programs within the last three years.

Purpose of the Study:

  • To provide an overview of the current status of expanded newborn screening programs in Europe.
  • To highlight the variability in screened disorders, laboratory practices, and reported data across European countries.

Main Methods:

  • Review of current newborn screening programs in European countries.
  • Analysis of the number of screened disorders, laboratory capacities, and data reporting practices.

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Main Results:

  • The number of screened disorders varies widely, from two to 20, across European countries.
  • Screening center capacities range from 18,000 to 77,000 live births.
  • Limited reporting of identified cases and technical data exists, despite participation in quality assurance schemes.

Conclusions:

  • Significant, seemingly arbitrary, differences in newborn screening programs across Europe hinder optimal public health benefits.
  • Harmonization of screening panels, analytical procedures, laboratory standards, and quality testing is urgently needed at the European level.
  • This harmonization is essential before the implementation of new tandem mass spectrometry applications for additional genetic disorders.