1. Reporting the results of cystic fibrosis carrier screening
- Author
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John C. Hershey, Michael T. Mennuti, James P. Patton, and David A. Asch
- Subjects
medicine.medical_specialty ,Cystic Fibrosis ,Genetic counseling ,Population ,Genetic Counseling ,Prenatal diagnosis ,Truth Disclosure ,Cystic fibrosis ,Decision Support Techniques ,medicine ,Humans ,Genetic Testing ,Allele ,education ,Genetic testing ,education.field_of_study ,Pregnancy ,medicine.diagnostic_test ,business.industry ,Genetic Carrier Screening ,Decision Trees ,Obstetrics and Gynecology ,medicine.disease ,Cystic Fibrosis Carrier Screening ,Surgery ,Family medicine ,business - Abstract
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.
- Published
- 1993
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