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Published on: April 11, 2018
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. jbeaudoi@fbr.org
Insights
Prenatal screening for cystic fibrosis (CF) is ready for routine practice. Cost-effective methods and existing educational materials support its implementation, with ethical considerations being manageable.
Area of Science:
- Medical Genetics
- Public Health
- Reproductive Medicine
Background:
- Cystic fibrosis (CF) is a genetic disorder requiring effective screening strategies.
- Integrating genetic screening into prenatal care necessitates careful planning and expert consensus.
Purpose of the Study:
- To convene experts and evaluate the feasibility of introducing cystic fibrosis screening into routine prenatal care.
- To identify requirements and best practices for implementing prenatal CF screening.
Main Methods:
- A conference involving multidisciplinary experts.
- Presentation and discussion of systematic reviews and trial data.
- Identification and analysis of key implementation issues.
Main Results:
- Prenatal cystic fibrosis screening meets established criteria for introduction into practice.
- Cost-effective screening models exist, targeting at-risk populations.
- Validated educational resources and manageable ethical considerations are available.
Conclusions:
- Prenatal CF screening can be initiated once essential infrastructure is established.
- Key components include patient and provider education, testing, counseling, quality control, and monitoring.
Purpose:
To summarize 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, counseling, quality control, and monitoring are in place, individual programs can begin prenatal screening for cystic fibrosis.
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