期刊
GENETICS IN MEDICINE
卷 14, 期 5, 页码 527-534出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2011.27
关键词
BRCA1/2; breast cancer; genetic testing; PGD; PND
资金
- Fondation de France
- La Ligue Nationale Contre le Cancer
- Institut National du Cancer [R08097AA/RPT08011AAA INCA]
- Agence de Biomedecine
Purpose: To assess the impact of BRCA1/2 test results on carriers' reproductive decision-making and the factors determining their theoretical intentions about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). Methods: Unaffected BRCA1/2 mutation carriers of childbearing age (N=605; 449 women; 151 men) were included at least 1 year after the disclosure of their test results in a cross-sectional survey nested in a national cohort. Multivariate adjustment was performed on the data obtained in self-administered questionnaires. Results: Response rate was 81.0%. Overall, 32.5% and 50% said that they would undergo PGD/PND, respectively, at a theoretical next pregnancy, whereas only 12.1% found termination of pregnancy (TOP) acceptable. Theoretical intentions toward PGD did not depend on gender/age, but were higher among those with no future childbearing plans (adjusted odds ratio (AOR) 95% confidence interval (CI): 3.5 (1.9-6.4)) and those having fewer relatives with cancer (AOR 1.5 95% CI (1.0-2.3)). Greater TOP acceptability was observed among males and those with lower educational levels; 85.4% of respondents agreed that information about PGD/PND should be systematically delivered with the test results. Conclusions: The closer to reproductive decision-making BRCA1/2 carriers are, i.e., when they are more likely to be making future reproductive plans, the less frequently they intend to have PGD. Carriers' theoretical intentions toward PND are discussed further.
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