ISSUES SURROUNDING PRENATAL GENETIC TESTING FOR ACHONDROPLASIA

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。

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.