Issues surrounding prenatal diagnosis of achondroplasia

自从研究人员在1994年确定了导致软骨发育不全的基因突变以来，一种针对软骨发育不全的产前检测已经成为可能。在广泛使用之前，我们必须更多地了解受影响者及其家庭的生活以及这些社区的教育和咨询需求。在对15个人进行电话访谈调查后，我们开发了一种新的调查工具，用于对小人物社区及其父母进行大规模定量横断面研究。该工具评估了一些心理参数以及生殖和家庭计划以及对基因检测和终止妊娠的态度。这项自我管理的调查将由软骨发育不全患者及其家庭成员在全国范围内完成。已经通过Westat发起了一项分发调查和数据分析的合同。调查已发送给LPA成员和骨骼发育不良诊所的患者。-软骨发育不全，DNA诊断，调查，产前诊断-人类受试者和人类受试者：访谈，问卷调查或仅调查

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 pregnancy termination. The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members. A contract through Westat has been initiated for distribution of the survey and data analysis. Surveys have been sent to LPA members and patients in skeletal dysplasia clinics. - achondroplasia, DNA diagnostics, survey, prenatal diagnosis - Human Subjects & Human Subjects: Interview, Questionaires, or Surveys Only