Screening for cystic fibrosis carrier state

Carrier screening for cystic fibrosis as part of reproductive health care, including prenatal care, is not the standard of practice at this time. Howe ver, a recent National Institutes of Health Consensus Development Conferenc e recommended that cystic fibrosis carrier screening should be offered to a dults with a family history of cystic fibrosis, partners of individuals wit h cystic fibrosis, couples planning a pregnancy, and couples seeking prenat al testing. A workshop convened to discuss the implementation of these reco mmendations concluded that several issues must be resolved before these rec ommendations can be implemented. This commentary reviews the discussions th at occurred and the conclusions that were reached at this workshop. Some of the subjects considered by the workshop participants were: the goals and o utcomes of carrier screening; the continuum from making a test available to offering that test; to whom, when, and how cystic fibrosis testing should be offered; laboratory practice and quality assurance; provider and patient education; and insurance issues. The workshop participants concluded that those populations to whom carrier screening should be offered might include individuals and couples in high-risk groups who seek preconception counsel ing, infertility care, or prenatal care. High-risk groups include individua ls of: white northern European or of Ashkenazi-Jewish descent, those whose partners have cystic fibrosis, and those with a family history of cystic fi brosis. Before screening can be offered systematically to these individuals or couples, practice guidelines, educational materials for providers and p atients, informed-consent protocols, and laboratory standards for testing m ust be developed. (C) 1999 by The American College of Obstetricians and Gyn ecologists.