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Screening for cystic fibrosis carrier state
M T Mennuti1, E Thomson, N Press
1Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia 19104-4283, USA. mmennnuti@obgyn.upenn.edu
Obstetrics and Gynecology
|March 13, 1999
Summary
Cystic fibrosis carrier screening is not standard practice, but recommendations suggest offering it to high-risk groups. Implementation requires developing guidelines, educational materials, and lab standards.
Area of Science:
- Medical Genetics
- Reproductive Health
- Public Health Policy
Background:
- Cystic fibrosis carrier screening is not currently a standard part of reproductive healthcare.
- National Institutes of Health (NIH) recommendations suggest offering screening to specific at-risk populations.
Purpose of the Study:
- To review discussions and conclusions from a workshop on implementing cystic fibrosis carrier screening recommendations.
- To identify key issues and requirements for the systematic implementation of screening.
Main Methods:
- The study is a commentary reviewing a workshop discussion.
- Key topics included screening goals, availability, target populations, laboratory standards, education, and insurance.
Main Results:
- Workshop participants identified several issues that must be resolved before widespread implementation.
- High-risk groups for screening include individuals of Northern European or Ashkenazi-Jewish descent, partners of individuals with cystic fibrosis, and those with a family history.
Conclusions:
- Systematic implementation of cystic fibrosis carrier screening requires the development of practice guidelines, patient/provider education, informed-consent protocols, and laboratory standards.
- Screening may be offered to individuals and couples seeking preconception counseling, infertility care, or prenatal care within identified high-risk groups.