AI Article Synopsis
- Scientists looked at how effective testing for cystic fibrosis (CF) is for people who might pass it on to their kids.
- They reviewed many studies to learn about people's attitudes towards the testing and if it helped them make better choices about having children.
- The results were mixed, and researchers found it hard to say for sure if testing really works well because the studies used were very different from each other.
Article Abstract
Background: genetic testing for cystic fibrosis (CF) has been offered to people with higher risk of being carrier.
Objectives: to assess the effectiveness of population-based CF carrier screening for adults of reproductive age and its optimal organizational features.
Design: systematic review.
Setting And Participants: MedLine, Embase, Cochrane Library, CINAHL and LILACS (1990-2022) were searched to retrieve primary and secondary studies on adults (16 years and older), with no clinical indication or genetic risk, eligible for genetic testing for CF carrier status.
Main Outcomes Measures: attitude to screening, uptake of screening offered, informed reproductive choices.
Results: a total of 3,326 records were screened and 292 potentially eligible full-text publications assessed. The review included 71 publications, corresponding to 3 reviews, 40 cohort studies (11 comparative, 29 single-arm), and 6 model studies, published between 1992 and 2021 (median 1998). Only one study compared screening or no screening. This study suggested an association between carrier screening and a lower incidence of CF. Comparative studies examined different approaches for invitation and testing, i.e., settings, target population (individuals/couples, prenatal/preconceptional), how invitations are organized (primary care/maternal hospitals), and format and content of the pre-test information. However, no firm conclusions can be drawn on the impact of these features on informed reproductive choices, uptake, and attitude, because of the limitations of the evidence collected.
Conclusions: the broad heterogeneity of the studies, methodological weaknesses, and the limited transferability of the results mean there is still uncertainty about the effectiveness of preconceptional and prenatal CF carrier screening in the general population.
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| http://dx.doi.org/10.19191/EP23.4-5.A612.064 | DOI Listing |
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