ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: A systematic review.Journal of genetic counseling · 2025Pooled it
- Disclosure of research results: a randomized study on GENEPSO-PS cohort participants.Health expectations : an international journal of public participation in health care and health policy · 2016Trial
- Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy.Familial cancer · 2024Review
- Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.Journal of assisted reproduction and genetics · 2023Article
- Review
- BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND).Journal of assisted reproduction and genetics · 2022Review
- Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women.Journal of community genetics · 2022Article
- The Influence of Adolescence on Parents' Perspectives of Testing and Discussing Inherited Cancer Predisposition.Journal of genetic counseling · 2018Article
- Reproductive Decision-Making in Women with BRCA1/2 Mutations.Journal of genetic counseling · 2017Article
- Article
- Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views.Journal of genetic counseling · 2016Article
- Impact of BRCA1/2 mutation on young women's 5-year parenthood rates: a prospective comparative study (GENEPSO-PS cohort).Familial cancer · 2015Article
- Breast cancer, BRCA mutations, and attitudes regarding pregnancy and preimplantation genetic diagnosis.The oncologist · 2014Article
- Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes.Familial cancer · 2014Article
- Breast cancer in the young: role of the geneticist.Journal of thoracic disease · 2013Article
- Preimplantation Genetic Testing for Breast Cancer.Nigerian medical journal : journal of the Nigeria Medical AssociationReview
Corrections and comments
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Authors and funding
15 authors at 14 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo 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).
methodsUnaffected 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.
resultsResponse 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.
conclusionsThe 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.