Issues Surrounding Prenatal Genetic Testing for Achondroplasia

NCT00001536 | Completed

• 2 other identifiers: 96012396-HG-0123
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief 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 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

Achondroplasia; Dwarfism

Keywords

Disability; Dwarfism; Ethics in Genetic Counseling; Quality of Life; Reproductive Issues; Support Groups; Achondroplasia

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Bellus GA, Escallon CS, Ortiz de Luna R, Shumway JB, Blakemore KJ, McIntosh I, Francomano CA. First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. Lancet. 1994 Nov 26;344(8935):1511-2. doi: 10.1016/s0140-6736(94)90332-8. No abstract available.

  PMID: 7968151 BACKGROUND

• Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995 Feb;56(2):368-73.

  PMID: 7847369 BACKGROUND

• Elejalde BR, de Elejalde MM, Hamilton PR, Lombardi JM. Prenatal diagnosis in two pregnancies of an achondroplastic woman. Am J Med Genet. 1983 Jul;15(3):437-9. doi: 10.1002/ajmg.1320150308.

  PMID: 6881210 BACKGROUND

MeSH Terms

Conditions

Achondroplasia; Dwarfism

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: December 10, 2002
• Study Start: August 1, 1996
• Study Completion: July 1, 2000
• Last Updated: March 4, 2008

Record last verified: 1999-08

Locations

US (1)