Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France).
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.
Scotet
Virginie
V
Inserm, U613, Brest, F-29200, France. virginie.scotet@univ-brest.fr
Duguépéroux
Ingrid
I
Audrézet
Marie-Pierre
MP
Blayau
Martine
M
Boisseau
Pierre
P
Journel
Hubert
H
Parent
Philippe
P
Férec
Claude
C
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