title: [National program for neonatal screening for cystic fibrosis: implementation and preliminary results].
abstract: Neonatal screening for cystic fibrosis was decided by the national medical authorities after a common investigation conducted by the French association ADPHE and national health insurance fund. Based on therapeutic progress and the proposed method using determination of blood immunoreactive trypsin then study of the main CF mutations, there is strong hope of effective CF detection and clinical benefit for the patients.
authors.affiliation: Hôpital Robert-Debré, AP-HP, 48, boulevard Sérurier, 75935 Paris Cedex 19. jean-navarro@rdb.ap-hop-paris.fr
authors.forename: J
authors.initials: J
authors.lastname: Navarro
authors.forename: C
authors.initials: C
authors.lastname: Grosskopf
authors.forename: M
authors.initials: M
authors.lastname: Vidailhet
authors.forename: M-L
authors.initials: ML
authors.lastname: Briard
authors.forename: J-P
authors.initials: JP
authors.lastname: Farriaux
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005602:France; D006078:Government Programs / Q000458:organization & administration; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening / Q000458:organization & administration; D014357:Trypsin / Q000097:blood
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014357:Trypsin