Reproductive Decision-Making in Women with BRCA1/2 Mutations

作者：Chan Jessica L^*; Johnson Lauren N C; Sammel Mary D; DiGiovanni Laura; Voong Chan; Domchek Susan M; Gracia Clarisa R

来源：Journal of Genetic Counseling, 2017, 26(3): 594-603.

DOI：10.1007/s10897-016-0035-x

• BRCA
• BRCA1
• BRCA2
• Fertility preservation
• Genetic counseling
• Preimplantation genetic diagnosis
• Prenatal diagnosis
• Reproductive decisions

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.

• 出版日期2017-6