Dépistage néonatal de la mucoviscidose, mise en place, implication des laboratoires et résultats nationaux

Cystic fibrosis newborn screening : implemen- tation, laboratories involvement and national results CF neonatal screening programs began over than 40 years ago. Initially a meconium albumin screening test measurement was performed; more recently it moved to immunoreactive trypsin measurements on dried blood samples collected on filter paper combined to molecular analysis for the main CFTR mutations with good test sensitivity and specifity. CF neonatal screening has been controversial for many years; the long term benefit on pulmonary function test is not yet demonstrated but its median term benefits on nutritional parameters are esta- blished as soon as the CF screened infant follow-up is done in a specialized centre. That is the reason why the systematic newborn screening program implemented in France in 2002, was combined with a follow-up care for CF patients in CF care centres (CRCMs) created by the health regulatory agency. France became the first country in the world to per- form the CF neonatal screening all over its territory, and the French Association for the Screening and Prevention of Infant Handicaps (AFDPHE) has been mandated. From 2002 to December 2005, 625 CF cases were detected.The incidence is 1/4348 with a wide range of regional variations. Among these, 14% of the infants with positive CF NBS results have a dilemma case presentation with a borderline or normal sweat test results and at least one mild mutation whose prognosis re- mains unknown.