Reproductive Decision-Making in Women with BRCA1/2 Mutations.
Reproductive Decision-Making in Women with BRCA1/2 Mutations.
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DOI：
10.1007/s10897-016-0035-x
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发表时间：
2017-06
影响因子：
1.9
通讯作者：
Gracia CR
中科院分区：
文献类型：
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作者：
Chan JL;Johnson LNC;Sammel MD;DiGiovanni L;Voong C;Domchek SM;Gracia CR
扩大BRCA突变的基因检测导致识别出更多的育龄妇女，这些妇女的突变检测呈阳性，这可能会影响对关系，生育和使用植入前遗传学诊断（PGD）和产前诊断（PND）的态度和决定。对1081名自我报告的BRCA携带者进行了横断面调查，以调查BRCA状态的知识如何影响这些问题。BRCA检测结果披露的平均年龄为44岁，36%的人报告有个人癌症病史。在163名单身女性中，21.5%的人感到结婚的压力更大。在284名家庭不完整的女性中，41%的人报告说，携带者身份影响了她们生孩子的决定。有癌症病史的女性更有可能报告BRCA+状态的知识影响了她们生育孩子的决定（OR 1.8, 95% CI 1-3.2）。59%的人认为应该向突变携带者提供PGD， 55.5%的人认为应该提供PND。综上所述，BRCA状态的知识影响了对关系和生育的态度，大多数携带者认为PGD和PND应该提供给其他携带者。本研究表明，BRCA携带者希望并将受益于测试披露后的生殖咨询。
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.