Issues Surrounding Prenatal Diagnosis Of Achondroplasia

Aging

Investigators

Abstract

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.