Issues Surrounding Prenatal Diagnosis Of Achondroplasia

软骨发育不全是人类侏儒症最常见的形式。超过95%的病例是由编码成纤维细胞生长因子受体3(FGFR3)的基因跨膜域的两个特定突变之一引起的。该项目旨在询问软骨发育不全患者和他们的普通亲属，他们对使用软骨发育不全产前诊断的看法。在过去的一年里，美国小人协会的成员完成了300多项调查，这是一个为身材矮小的人提供支持的组织。这项调查旨在了解受试者对使用产前诊断诊断软骨发育不全的态度，并评估他们处理这一问题的心理和精神相关性。数据分析正在进行中。

Achondroplasia is the most common form of human dwarfism. More than 95% of cases are caused by one of two specific mutations in the transmembrane domain of the gene encoding fibroblast growth factor receptor 3 (FGFR3). This project was designed to ask persons with achondroplasia, and their average statured relatives, how they feel about the use of prenatal diagnosis for achondroplasia. Over the past year, more than 300 surveys have been completed by members of the Little People of America, a support group for short statured persons. The survey was designed to discern subjects' attitudes toward the use of prenatal diagnosis for achondroplasia, and to assess psychological and spiritual correlates of their approaches to this issue. Data analysis is ongoing.