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Antenatal screening for cystic fibrosis
1Centre for Reproduction, Growth and Development, University of Leeds, UK.
British Journal of Obstetrics and Gynaecology
|August 1, 1996
Summary
Antenatal screening for cystic fibrosis is practical for implementation in Yorkshire. The study found it feasible with efficient laboratory turnaround and reasonable costs, despite lower uptake rates than other UK studies.
Area of Science:
- Medical Genetics
- Public Health
- Reproductive Medicine
Background:
- Cystic fibrosis (CF) is a genetic disorder.
- Antenatal screening aims to identify carriers of CF mutations.
- The delta F508 mutation is prevalent in Yorkshire's CF carrier population.
Purpose of the Study:
- To evaluate the feasibility of implementing antenatal screening for cystic fibrosis in Yorkshire.
- To assess the practicality and identify potential challenges of a CF screening program.
Main Methods:
- A prospective study offered delta F508 mutation testing to pregnant women in Yorkshire.
- Reproductive partners of carriers were tested, and identified carriers received genetic counseling.
- Screening occurred in antenatal clinics across two hospitals and eight general practices.
Main Results:
- 62% of 6,071 pregnant women accepted screening, a lower uptake than other UK studies.
- Significant variations in uptake existed between different clinical settings (hospitals vs. general practices).
- 130 women (3.4%) were identified as carriers, leading to three carrier couples; lab results averaged 5 days at £16 cost.
Conclusions:
- Antenatal screening for cystic fibrosis presents no significant practical obstacles for Yorkshire.
- The implementation of routine antenatal CF screening in Yorkshire is considered feasible.