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 pro...

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Bibliographic Details
Published in:	American journal of obstetrics and gynecology Vol. 168; no. 1 Pt 1; p. 1
Main Authors:	Asch, D A, Patton, J P, Hershey, J C, Mennuti, M T
Format:	Journal Article
Language:	English
Published:	United States 01-01-1993
Subjects:	Cystic Fibrosis - genetics Decision Support Techniques Decision Trees Genetic Carrier Screening - methods Genetic Counseling Genetic Testing - methods Humans Truth Disclosure
Online Access:	Get more information
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Summary:	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.
ISSN:	0002-9378
DOI:	10.1016/S0002-9378(12)90875-3