Issues surrounding prenatal genetic testing for achondroplasia

Holly C. Gooding, Karina Boehm, Richard E. Thompson, Don Hadley, Clair A. Francomano, Barbara Bowles Biesecker

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Objectives: Mutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most prevalent form of dwarfism. Since the discovery of the mutations and gene in 1994, commercial testing has been available for use in prenatal diagnosis. This study sought to determine the awareness of, interest in and use of prenatal genetic testing for achondroplasia. Methods: Surveys were collected from both individuals affected with achondroplasia (n = 189) and their average statured relatives (n = 136). Results: The majority of participants were aware of the prenatal genetic testing at the time they were surveyed, but less than 10% had actually used the testing. Affected individuals were much more interested in using the testing if they became pregnant (62%) than were their relatives (28%). The groups were remarkably similar in their interest in using the testing to identify the lethal, homozygous form of achondroplasia and in their unwillingness to consider termination of pregnancies based on a diagnosis of either achondroplasia or average stature. Affected status and perception of the condition were correlated with the importance placed on knowing the prenatal diagnoses of achondroplasia and average stature. Views on abortion were highly correlated with all aspects of interest in prenatal diagnosis for achondroplasia. Conclusion: These results elucidate the role of selected attitudes and beliefs that contribute to reproductive decision making about achondroplasia. Furthermore, the findings provide insights into education and counseling issues for families and health care practitioners.

Original languageEnglish (US)
Pages (from-to)933-940
Number of pages8
JournalPrenatal Diagnosis
Issue number10
StatePublished - Oct 1 2002


  • Achondroplasia
  • Illness perception
  • Prenatal genetic testing
  • Reproductive decisions

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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