title: Reproductive Decision-Making in Women with BRCA1/2 Mutations.
abstract: Expanded genetic testing of BRCA mutations has led to identification of more reproductive-aged women who test positive for the mutation which might impact attitudes and decisions about relationships, childbearing and the use of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). A cross-sectional survey was administered to 1081 self-reported BRCA carriers to investigate how knowledge of BRCA status influences these issues. The mean age at BRCA test disclosure was 44 years and 36 % reported a personal history of cancer. Of 163 women who were unpartnered, 21.5 % felt more pressure to get married. Of 284 women whose families were not complete, 41 % reported that carrier status impacted their decision to have biological children. Women with a history of cancer were more likely to report that knowledge of BRCA+ status impacted their decision to have a child (OR 1.8, 95 % CI 1-3.2). Fifty-nine percent thought PGD should be offered to mutation carriers and 55.5 % thought PND should be offered. In conclusion, knowledge of BRCA status impacts attitudes regarding relationships and childbearing, and most carriers believe that PGD and PND should be offered to other carriers. This study suggests that BRCA carriers desire and would benefit from reproductive counseling after test disclosure.
authors: Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, PA, USA. jessicachanmd@gmail.com.|Center for Fertility and Reproductive Medicine, Cedars-Sinai Medical Center, 8635 W. 3rd Street, Suite 160W, Los Angeles, CA, 90048, USA. jessicachanmd@gmail.com.
authors: Jessica L
authors: JL
authors: Chan
authors: Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, PA, USA.|Reproductive Endocrinology Associates of Charlotte, Charlotte, NC, USA.
authors: Lauren N C
authors: LNC
authors: Johnson
authors: Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, PA, USA.|Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
authors: Mary D
authors: MD
authors: Sammel
authors: Abramson Cancer Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.|Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, USA.
authors: Laura
authors: L
authors: DiGiovanni
authors: Abramson Cancer Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.|Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, USA.
authors: Chan
authors: C
authors: Voong
authors: Abramson Cancer Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.|Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, USA.
authors: Susan M
authors: SM
authors: Domchek
authors: Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, PA, USA.
authors: Clarisa R
authors: CR
authors: Gracia
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D003430:Cross-Sectional Studies; D003657:Decision Making; D005260:Female; D059247:Fertility Preservation; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D011247:Pregnancy; D043762:Reproductive Behavior
keywords: BRCA; BRCA1; BRCA2; Fertility preservation; Genetic counseling; Preimplantation genetic diagnosis; Prenatal diagnosis; Reproductive decisions