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首页> 外文期刊>Journal of genetic counseling >A Pilot Study of BRCA Mutation Carriers' Knowledge About the Clinical Impact of Prophylactic-oophorectomy and Views on Fertility Consultation: A Single-Center Pilot Study
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A Pilot Study of BRCA Mutation Carriers' Knowledge About the Clinical Impact of Prophylactic-oophorectomy and Views on Fertility Consultation: A Single-Center Pilot Study

机译:BRCA突变携带者对预防性卵巢切除术的临床影响的知识的初步研究以及对生育咨询的看法:单中心先导研究

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BRCA mutation carriers will experience early surgically induced menopause following prophylactic bilateral salpingo-oophorectomy (PBSO). This pilot study aimed to investigate their (1) knowledge about the clinical impact of PBSO; (2) views on fertility consultation (FC)/fertility preservation (FP) treatment; and (3) difficulties in conceiving compared to non-carriers. A cross-sectional, single institution web-survey was performed at a university-based IVF center. Women aged 18-50 years who were screened for BRCA gene mutations from 2005 to 2013 were recruited via mail. Forty-one BRCA-positive and 110 BRCA-negative women completed the survey (response rate: 50 %). The knowledge about the reproductive impact of PBSO was limited, with the majority of women in this highly educated sample only identifying the correct response 64 % of the time. Among BRCA mutation carriers, 24 (59 %) had positive views about FC/FP treatments. A larger proportion of women with no children at the time of BRCA testing, and those who were non-white tended to have positive views toward FP. Women with, versus without, BRCA mutations were more likely to have difficulty in conceiving (p = 0.08). This well-educated group had limited knowledge about the reproductive clinical impact of PBSO, or the benefit of a FP before PBSO. Most women with BRCA mutations were interested in FC/FP treatment if they had not completed childbearing at the time of screening. Targeted referrals for FC at the time of BRCA screening may help women improve knowledge and allow improved decision-making about reproductive options.
机译:预防性双侧输卵管卵巢切除术(PBSO)后,BRCA突变携带者将经历早期的手术诱发的更年期。这项初步研究旨在调查他们(1)关于PBSO的临床影响的知识; (2)关于生育咨询(FC)/生育保护(FP)治疗的意见; (3)与非承运人相比,受孕困难。在一家大学的试管婴儿中心进行了横断面,单一机构的网络调查。通过邮件招募了从2005年至2013年筛查BRCA基因突变的18-50岁女性。 41位BRCA阳性和110位BRCA阴性的妇女完成了调查(答复率:50%)。关于PBSO的生殖影响的知识是有限的,在这个受过高等教育的样本中,大多数女性仅在64%的时间内识别出正确的反应。在BRCA突变携带者中,有24位(59%)对FC / FP治疗持积极态度。在进行BRCA测试时,有较大比例的没有孩子的女性以及非白人女性倾向于对FP有正面看法。患有或未患有BRCA突变的女性更容易受孕(p = 0.08)。这个受过良好教育的人群对PBSO的生殖临床影响或PBSO之前FP的获益知之甚少。如果大多数BRCA突变的女性在筛查时尚未完成分娩,就对FC / FP治疗感兴趣。在进行BRCA筛查时有针对性地推荐FC,可以帮助女性提高知识水平,并改善有关生殖选择的决策。

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