Issues Surrounding Prenatal Genetic Testing for Achondroplasia

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Dec 9, 2002

Keywords

ClinConnect Summary

Since the gene responsible for achondroplasia was identified in 1994, it has become possible to test for achondroplasia prenatally. Moreover, prenatal genetic testing for achondroplasia is relatively simple and is highly likely to be informative for any couple seeking testing. Four diagnostic laboratories in the U.S. are currently performing prenatal genetic testing for achondroplasia. Before prenatal genetic testing for achondroplasia becomes more widely available, however, it is essential that we learn more about the lives of affected individuals and their families, the implications of of...

Gender

ALL

Eligibility criteria

• • Adult individuals of either gender with achondroplasia and their first degree relatives (both short and average statured) of all ethnic and cultural backgrounds.
• • No short-statured persons with conditions other than achondroplasia.
• • No average-statured family members of short statured persons with conditions other than achondroplasia.
• • No minors less than 18 years of age.