[The French nationwide cystic fibrosis newborn screening program: strategy and results]

Arch Pediatr. 2008 Jun:15 Suppl 1:S1-6. doi: 10.1016/S0929-693X(08)73940-X.
[Article in French]

Abstract

In 2002 France implemented a nationwide newborn screening program for cystic fibrosis (CF). The strategy combined immunoreactive trypsinogen and, in case of a value over the cut-off level, DNA analysis in dried blood samples at day 3. Data were centralized and periodically analyzed thus maintaining the percentage of samples requiring mutation analysis (0.6%), limiting the number of false-positive cases (0.1%) without increasing the number of false-negative cases (3.2%). 3.527.353 infants were screened between 2002 and 2006. The overall cystic fibrosis incidence was 1/ 4136 with a wide range of regional variations. Dilemma case presentation occurred for 14 % of the patients; an European working group is actively working on this topic, attempting to establish a consensus on the adequate procedures. Cystic fibrosis newborn screening is feasible all over a nation but needs a strong organization from maternity wards to CF care centers.

Publication types

  • English Abstract

MeSH terms

  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • DNA Mutational Analysis
  • France / epidemiology
  • Humans
  • Infant
  • Infant, Newborn
  • Neonatal Screening*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator