The recent discovery of the cystic fibrosis gene has offered the possibility of population-based cystic fibrosis carrier screening.
Although >100 distinct mutations have been identified, five of these in aggregate represent about 85% of the alleles in Britain and the United States.
Screening programs that test for these five mutations can be designed to offer several alternative ways to communicate the risk to a pregnancy and several alternative ways to manage a pregnancy.
At this time we favor a strategy of screening partners in a couple in sequence, screening the second partner only if the first is positive; nevertheless, different strategies will appeal to different couples.
Mots-clés Pascal : Foetus pathologie, Appareil digestif pathologie, Appareil respiratoire pathologie, Dépistage, Homme, In utero, Mucoviscidose, Conseil génétique, Pancréas pathologie, Economie santé, Etats Unis, Amérique du Nord, Amérique
Mots-clés Pascal anglais : Fetal diseases, Digestive diseases, Respiratory disease, Medical screening, Human, In utero, Mucoviscidosis, Genetic counseling, Pancreatic disease, Health economy, United States, North America, America
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 93-0300601
Code Inist : 002B20F03. Création : 199406.