Reporting the results of cystic fibrosis carrier screening.
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.
Asch
D A
DA
Division of General Internal Medicine, University of Pennsylvania School of Medicine, Philadelphia 19104-2676.
Patton
J P
JP
Hershey
J C
JC
Mennuti
M T
MT
D003550:Cystic Fibrosis / Q000235:genetics*; D003661:Decision Support Techniques; D003663:Decision Trees; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D014342:Truth Disclosure