Background Although several programmes of prenatal screening for cystic fibrosis have been completed and reported, there are still uncertainties about rates of take up and also about the action of parents identified as having a one-in-four risk of an affected child.
I report 5 years'experience with the two-step and couple models of prenatal screening of cystic fibrosis.
Methods Screening has been available at two antenatal clinics in Edinburgh, UK, since January, 1992, first on a research basis and then routinely. 25 000 couples have been screened.
Findings Take-up rates for the two-step and couple models of delivery are very similar at about 70%. Take-up rates did not change when screening moved from a research to a routine service.
Of 22 high-risk couples identified entirely through screening, 20 (91%) opted for prenatal diagnosis.
Four couples returned for second and two for third monitored pregnancies.
In all eight cases where affected fetuses were identified, pregnancy was terminated.
Interpretation These data remove one of the few remaining obstacles to a general implementation of prenatal screening for cystic fibrosis.
Mots-clés Pascal : Mucoviscidose, Programme diagnostic, Prénatal, Dépistage, Foetus, Royaume Uni, Europe, Parent, Appareil respiratoire pathologie, Appareil digestif pathologie, Pancréas pathologie, Maladie héréditaire, Métabolisme pathologie, Foetus pathologie, Santé publique
Mots-clés Pascal anglais : Cystic fibrosis, Diagnostic program, Prenatal, Medical screening, Fetus, United Kingdom, Europe, Parent, Respiratory disease, Digestive diseases, Pancreatic disease, Genetic disease, Metabolic diseases, Fetal diseases
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0147520
Code Inist : 002B22D05. Création : 199608.