First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia.
G A Bellus, C S Escallon, R Ortiz de Luna...
https://pubmed.ncbi.nlm.nih.gov/7968151Completed
All Genders
ID00001536
Issues Surrounding Prenatal Genetic Testing for Achondroplasia
Led by National Human Genome Research Institute (NHGRI) · Updated on 2008-03-04
2000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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 offering testing for achondroplasia, and the education and the counseling needs of this community. Personal interviews and stories have been published and discussed at national meetings (Ablon 1984). We conducted a pilot telephone interview survey of 15 individuals with achondroplasia. What is needed now is a large scale quantitative study of the community of little people and their families. To meet this need, we have developed a survey tool to analyze family relationships, quality of life, tendencies toward optimism or pessimism, information-avoiding or information-seeking behaviors, social support, involvement in Little People of America Inc. (LPA), self-esteem, sociodemographics and views on achondroplasia, religiousness, reproductive and family plans, genetic testing, and abortion. The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members.
CONDITIONS
Official Title
Issues Surrounding Prenatal Genetic Testing for Achondroplasia
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
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.
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
Trial Site Locations
Total: 1 location
1
National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, United States, 20892
Status Unknown
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How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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Published Research Related To This Trial
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
G A Bellus, T W Hefferon, R I Ortiz de Luna...
https://pubmed.ncbi.nlm.nih.gov/7847369Prenatal diagnosis in two pregnancies of an achondroplastic woman.
B R Elejalde, M M de Elejalde, P R Hamilton...
https://pubmed.ncbi.nlm.nih.gov/6881210