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Prenatal screening for cystic fibrosis: 5 years' experience reviewed
1Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
Insights
Prenatal screening for cystic fibrosis shows high uptake and acceptance of prenatal diagnosis among at-risk couples. These findings support widespread implementation of cystic fibrosis prenatal screening programs.
Area of Science:
- Medical Genetics
- Reproductive Medicine
- Public Health
Background:
- Uncertainties persist regarding cystic fibrosis prenatal screening uptake and parental decisions.
- Previous programs have provided some data, but further evidence is needed for general implementation.
Purpose of the Study:
- To evaluate 5 years of experience with two-step and couple models for prenatal screening of cystic fibrosis.
- To assess take-up rates and parental actions following identification of high-risk pregnancies.
Main Methods:
- Prenatal screening for cystic fibrosis was offered at two Edinburgh antenatal clinics from January 1992.
- Screening was conducted first on a research basis, then transitioned to a routine service, involving 25,000 couples.
Main Results:
- Take-up rates for both screening models were consistently around 70% and did not change with the transition to routine service.
- Of 22 high-risk couples identified, 91% chose prenatal diagnosis, with all eight affected fetuses identified leading to pregnancy termination.
Conclusions:
- The study demonstrates high acceptance and effective utilization of prenatal screening for cystic fibrosis.
- These findings remove a significant barrier to the widespread implementation of prenatal screening for cystic fibrosis.
Background:
Although several programmes of prenatal screening for cystic fibrosis have been completed and reported, there are still uncertainties about rates of take up and also about the action of parents identified as having a one-in-four risk of an affected child. I report 5 years' experience with the two-step and couple models of prenatal screening of cystic fibrosis.
Methods:
Screening has been available at two antenatal clinics in Edinburgh, UK, since January, 1992, first on a research basis and then routinely. 25,000 couples have been screened.
Findings:
Take-up rates for the two-step and couple models of delivery are very similar at about 70%. Take-up rates did not change when screening moved from a research to a routine service. Of 22 high-risk couples identified entirely through screening, 20 (91%) opted for prenatal diagnosis. Four couples returned for second and two for third monitored pregnancies. In all eight cases where affected fetuses were identified, pregnancy was terminated.
Interpretation:
These data remove one of the few remaining obstacles to a general implementation of prenatal screening for cystic fibrosis.