Reporting the results of cystic fibrosis carrier screening

Am J Obstet Gynecol. 1993 Jan;168(1 Pt 1):1-6. doi: 10.1016/s0002-9378(12)90875-3.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cystic Fibrosis / genetics*
  • Decision Support Techniques
  • Decision Trees*
  • Genetic Carrier Screening / methods*
  • Genetic Counseling*
  • Genetic Testing / methods*
  • Humans
  • Truth Disclosure