title: Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France).
abstract: OBJECTIVE
  This study reports 18 years of experience in prenatal diagnosis (PD) of cystic fibrosis (CF) in a region where CF is frequent and the uptake of PD is common (Brittany, western France).
  
  
  METHODS
  All PDs made over the period 1989-2006 in women living in Brittany were collected.
  
  
  RESULTS
  We recorded 268 PDs made in 1 in 4 risk couples, plus 22 PDs directly made following the sonographic finding of echogenic bowel. Most of the 268 PDs were done in couples already having CF child(ren) (n = 195, 72.8%). Close to one-fifth followed cascade screening (n = 49, 18.3%), which identified 26 new 1 in 4 risk couples among the relatives of CF patients or of carriers identified through newborn screening (NBS). The remaining PDs were mainly made in couples whose 1 in 4 risk was evidenced following the diagnosis of echogenic bowel in a previous pregnancy (n = 22, 8.2%). Although patients' life expectancy has considerably improved, in our population the great majority of couples chose pregnancy termination when PD indicated that the foetus had CF (95.9%).
  
  
  CONCLUSIONS
  This study describes the distribution of PDs according to the context in which the 1 in 4 risk was discovered and highlights the real decisions of couples as regards pregnancy termination after a positive PD.
authors.affiliation: Inserm, U613, Brest, F-29200, France. virginie.scotet@univ-brest.fr
authors.forename: Virginie
authors.initials: V
authors.lastname: Scotet
authors.forename: Ingrid
authors.initials: I
authors.lastname: Duguépéroux
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Audrézet
authors.forename: Martine
authors.initials: M
authors.lastname: Blayau
authors.forename: Pierre
authors.initials: P
authors.lastname: Boisseau
authors.forename: Hubert
authors.initials: H
authors.lastname: Journel
authors.forename: Philippe
authors.initials: P
authors.lastname: Parent
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000453:epidemiology*; D005260:Female; D005602:France; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal