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Issues in implementing prenatal screening for cystic fibrosis: results of a working conference
J E Haddow1, L A Bradley, G E Palomaki
1Foundation for Blood Research, Scarborough, Maine 04070-0190, USA.
Insights
Prenatal screening for cystic fibrosis is ready for implementation. With proper education and resources, programs can begin offering this important genetic test.
Area of Science:
- Genetics
- Medical Screening
Background:
- Conference convened experts to examine cystic fibrosis screening introduction into routine prenatal practice.
- Systematic reviews and trial data were presented and discussed.
Framework:
- Prenatal cystic fibrosis screening is suitable for introduction based on published criteria.
- Cost-effective screening models identified by targeting at-risk racial/ethnic groups.
Implementation:
- Validated educational materials are available for patient and provider education.
- Two laboratory service delivery models exist for efficient testing.
Implications:
- Ethical issues associated with screening are not unique and can be managed.
- Individual programs can commence prenatal screening for cystic fibrosis once necessary facilities are established.
Objective:
To summarise a conference convened to examine how cystic fibrosis screening might appropriately be introduced into routine prenatal practice.
Methods:
Participants included experts from various relevant disciplines. Systematic reviews and data from individual trials were presented; issues were identified and discussed.
Results:
Judged by published criteria, prenatal cystic fibrosis screening is suitable for introduction. Screening can be performed cost effectively by identifying racial/ethnic groups at sufficient risk and then using either of two models for delivering laboratory services. Validated educational materials exist. Ethical issues are not unique.
Conclusions:
Once adequate facilities for patient and provider education, testing, counselling, quality control, and monitoring are in place, individual programmes can begin prenatal screening for cystic fibrosis.