ISSUES SURROUNDING PRENATAL GENETIC TESTING FOR ACHONDROPLASIA

软骨发育不全产前基因检测的相关问题

• 批准号: 6162577
• 负责人: C A FRANCOMANO
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6162577
• 关键词: achondroplasia; behavioral /social science research tag; belief; clinical research; family planning; genetic counseling; genetic disorder diagnosis; health behavior; health education; human subject; induced abortion; interview; population survey; prenatal diagnosis; psychological values

Since researchers identified the gene mutation responsible for achondroplasia in 1994, a prenatal test for acholdroplasia has become available. Before it is widely available, it is essential that we learn more about the lives of affected persons and their families as well as the education and counseling needs of these communities. After conducting a pilot telephone interview survey of 15 individuals, we developed a new survey instrument for a large scale quantitative cross-sectional study of the communities of little people and their parents. The tool assesses a number of psychological parameters as well as reproductive and family plans and attitudes toward genetic testing and abortion. The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members. In the past year, we have received approval for the study from the Medical Advisory Board of the Little People of America, and initiated a contract through Westat for distribution of the survey and data analysis. Surveys will be sent to LPA members and patients in skeletal dysplasia clinics.

由于研究人员确定了导致 软骨发育不全1994年，一项诊断软骨发育不全的产前检查已成为 可用。在它被广泛使用之前，我们必须了解 更多关于受影响的人及其家人的生活以及 这些社区的教育和咨询需求。在指挥后 一项对15个人进行的试点电话采访调查，我们开发了一种新的 用于大规模定量横断面研究的测量仪器 由小人物和他们的父母组成的社区。该工具评估 一些心理参数以及生殖和家庭 对基因测试和堕胎的计划和态度。这个 自填式调查将在全国范围内通过抽样完成 软骨发育不全者及其家庭成员。在过去一年里， 我们已经得到了医学咨询委员会对这项研究的批准 ，并通过Westat发起了一项合同 进行了分布调查和数据分析。调查将被寄出 给LPA成员和骨骼发育不良诊所的患者。