Journal of Genetic Counseling

, Volume 14, Issue 1, pp 1–15 | Cite as

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

  • Elinor Langfelder-Schwind
  • Edward Kloza
  • Elaine Sugarman
  • Barbara Pettersen
  • NSGC Subcommittee on Cystic Fibrosis Carrier Testing
  • Trisha Brown
  • Kim Jensen
  • Seth Marcus
  • Joy Redman
Professional Issues

Abstract

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients’ informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider’s professional judgment based on the clinical circumstances of a particular client.

Keywords

cystic fibrosis carrier screening genetic testing genetic counseling 

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Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  • Elinor Langfelder-Schwind
    • 1
    • 9
  • Edward Kloza
    • 2
  • Elaine Sugarman
    • 3
  • Barbara Pettersen
    • 4
  • NSGC Subcommittee on Cystic Fibrosis Carrier Testing
  • Trisha Brown
    • 5
  • Kim Jensen
    • 6
  • Seth Marcus
    • 7
  • Joy Redman
    • 8
  1. 1.St. Vincent Catholic Medical Centers, New YorkNew York
  2. 2.Foundation for Blood ResearchScarborough
  3. 3.Genzyme GeneticsFramingham
  4. 4.Genetic Counseling of Central Oregon
  5. 5.LabCorpResearch Triangle Park
  6. 6.Ferre Institute, BinghamtonNew York
  7. 7.Lutheran General HospitalPark Ridge
  8. 8.Quest DiagnosticsSan Capistrano
  9. 9.Schwind, The Cystic Fibrosis CenterNew York

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