Neonatal screening for metabolic and endocrine disorders

Dtsch Arztebl Int. 2011 Jan;108(1-2):11-21; quiz 22. doi: 10.3238/arztebl.2011.0011. Epub 2011 Jan 10.


Background: Neonatal screening for treatable endocrinopathies and inborn errors of metabolism is an important preventive measure. Advances in the diagnosis and treatment of these diseases have made it necessary to expand the screening program.

Methods: This article is based on a selective literature review and our clinical experience.

Results: In 2005, neonatal screening in Germany was expanded from 3 to 14 diseases, as mandated by the responsible governmental authority (the Gemeinsamer Bundesausschuss, i.e., Joint Federal Committee). From 2005 to 2008, screening revealed diseases requiring treatment in 1932 out of a total of 2,758,633 newborns (prevalence, 1 in 1428). The expansion of the screening program resulted in a 57% increase in the overall number of cases detected and a 92% increase for metabolic diseases alone.

Conclusion: The German neonatal screening program for treatable endocrinopathies and inborn errors of metabolism is a complex and integrated preventive measure that has become markedly more effective as a result of its expansion in 2005.

MeSH terms

  • Endocrine System Diseases / diagnosis*
  • Endocrine System Diseases / prevention & control*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Metabolic Diseases / diagnosis*
  • Metabolic Diseases / prevention & control*
  • Neonatal Screening / methods*
  • Neonatal Screening / trends*