title: [The French nationwide cystic fibrosis newborn screening program: strategy and results].
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.
authors.affiliation: CRCM Pédiatrique, CHU Robert Debré, AP-HP, 48, boulevard Sérurier, 75019 Paris, France. anne.munck@rdb.aphp.fr
authors.forename: A
authors.initials: A
authors.lastname: Munck
authors.forename: M
authors.initials: M
authors.lastname: Roussey
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005602:France / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator