CARRIER TESTING IN FRAGILE X SYNDROME: BIOETHICS

脆性 X 综合征的携带者测试：生物伦理学

• 批准号: 6121789
• 负责人: ALLYN MCCONKIE-ROSELLE
• 金额: --
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-09-01 至 1999-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6121789
• 关键词: biomedical resource; clinical research; ethics; female; genetics; human subject; mental disorders; psychology; women's health

Investigators and clinicians at the Fragile X Clinic at Duke University Medical Center have observed the variable response to carrier testing of women of diverse ages, as well as the direct impact upon them and upon their immediate and extended families. In a recently completed pilot study of obligate carriers of Fragile X Syndrome, which attempted to ascertain opinions and attitudes regarding carrier testing, 89% of the respondents reported that prior knowledge of carrier status would have changed their reproductive plans. The study also solicited the opinion of respondents as to optimal timing of carrier testing and the optimal age to inform children of the heritable nature of the Fragile X Syndrome. The present study is designed to examine whether (1) the outcome of carrier testing is correlated with changes in self-concept, coping behavior, and family adaptation and support, (2) whether such variables as family adaptation and support, or self concept, can be used to help predict an individual's response to the outcome of carrier testing, and (3) whether women who are at risk differ from obligate carriers in their assessments of optimal age for learning of the heritable nature of Fragile X Syndrome, and for undergoing carrier testing. Specific problems encountered with carrier testing may well be more related to life stages than to chronological age.

杜克大学脆性X诊所的研究人员和临床医生 大学医学中心观察到了对 对不同年龄段妇女的携带者检测以及直接影响 对他们和他们的直系亲属和大家庭。在一个 最近完成的脆性X染色体专性携带者的初步研究 综合症，试图确定观点和态度 对于运营商测试，有%的受访者表示之前 对携带者状况的了解会改变他们的生殖能力 计划。该研究还就以下问题征求了受访者的意见 载波测试的最佳时间和通知的最佳年龄 遗传性脆性X综合征的儿童。这个 本研究的目的是检验(1) 携带者测试与自我概念、应对方式的变化 行为、家庭适应和支持，(2)是否如此 家庭适应和支持或自我概念等变量可以是 用于帮助预测个人对以下结果的反应 携带者检测，以及(3)处于危险中的妇女是否与 义务承运者在评估最佳学习年龄时 脆性X综合征的遗传性及其携带者 测试。运营商测试遇到的具体问题很可能 更多地与生命阶段有关，而不是与实际年龄有关。