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Prenatal screening for cystic fibrosis.
M E Mennie1, A Gilfillan, M Compton
1Human Genetics Unit, University of Edinburgh, UK.
Lancet (London, England)
|July 25, 1992
Summary
Carrier screening for cystic fibrosis (CF) in pregnant women is feasible. A trial found 1 in 29 women were carriers, with temporary stress for carriers that resolved when partners tested negative.
Area of Science:
- Medical Genetics
- Reproductive Health
- Public Health Screening
Background:
- Carrier screening for cystic fibrosis (CF) is available but optimal service delivery remains unclear.
- Antenatal clinics offer a potential venue for widespread CF carrier screening.
- Understanding the psychological impact of screening is crucial for service implementation.
Purpose of the Study:
- To evaluate the feasibility and outcomes of a prenatal CF carrier screening program.
- To assess the psychological impact of CF carrier screening on pregnant women and their partners.
- To determine the carrier frequency within a pregnant population.
Main Methods:
- A prospective trial involving 4348 women at an Edinburgh maternity hospital.
- Mouthwash samples tested for six common CF alleles (85% of mutations).
- Partner testing offered for identified female carriers; heterozygous couples offered prenatal diagnosis.
Main Results:
- 111 out of 3165 (1 in 29) women were identified as CF carriers.
- 4 couples were identified as high-risk (both partners carriers), leading to one termination.
- Screening caused temporary psychological stress in carriers, which resolved when partners tested negative.
Conclusions:
- Antenatal CF carrier screening is a viable model, particularly when integrated with existing clinic appointments.
- Readily available counseling is essential to manage the psychological impact of screening.
- This approach allows for informed reproductive choices and prenatal diagnosis.
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