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[Neonatal screening for phenylketonuria and hypothyroidism in France. A 12-year experience]

M L Briard1

  • 1Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris.

Annales De Biologie Clinique
|January 1, 1988
PubMed

Insights

France

Area of Science:

  • Neonatal screening
  • Pediatric medicine
  • Public health

Context:

  • Systematic, co-ordinated, and controlled neonatal screening programs in France.
  • Extensive screening for phenylketonuria (PKU) and congenital hypothyroidism.
  • Long-term data collection and analysis of screening outcomes.

Purpose:

  • To report on the experience and outcomes of a national neonatal screening program.
  • To assess the effectiveness of screening for phenylketonuria and hypothyroidism.
  • To highlight the importance of false negative investigation and specialized care.

Summary:

  • Nearly 13 million tests for phenylketonuria (PKU) and over 7 million for hypothyroidism conducted.
  • Screened approximately 850 children with PKU and over 1,600 with hypothyroidism.
  • Estimated PKU frequency at 1:16,394 and hypothyroidism at 1:4,041.

Impact:

  • Enabled early detection and care for over 2,500 children.
  • Prevented mental retardation and facilitated normal development in affected infants.
  • Demonstrated the significant positive impact of comprehensive neonatal screening programs.

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