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BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis.


ABSTRACT:

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.

SUBMITTER: Julian-Reynier C 

PROVIDER: S-EPMC4088944 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature

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Publications

BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis.

Julian-Reynier Claire C   Fabre Roxane R   Coupier Isabelle I   Stoppa-Lyonnet Dominique D   Lasset Christine C   Caron Olivier O   Mouret-Fourme Emmanuelle E   Berthet Pascaline P   Faivre Laurence L   Frenay Marc M   Gesta Paul P   Gladieff Laurence L   Bouhnik Anne-Deborah AD   Protière Christel C   Noguès Catherine C  

Genetics in medicine : official journal of the American College of Medical Genetics 20120112 5


<h4>Purpose</h4>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).<h4>Methods</h4>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 perf  ...[more]

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