Living with achondroplasia: Attitudes toward population screening and correlation with quality of life

Sarah E. Gollust, Richard E. Thompson, Holly C. Gooding, Barbara B. Biesecker

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Objectives: Since the discovery of the gene that causes achondroplasia, population-wide prenatal screening for this condition has become a possibility. This study sought to assess attitudes toward screening for achondroplasia and correlation with quality of life in a population of individuals affected with achondroplasia and first-degree relatives. Methods: Surveys were collected from 189 individuals affected with achondroplasia and 136 average-statured first-degree relatives. Results: While 87% of all respondents would support the use of prenatal screening by affected parents at risk of having a fetus with the homozygous, lethal form of achondroplasia, 29% would support general population prenatal screening for achondroplasia. Attitudes supporting general population screening were more likely to be held by those people with less education, who were affected with achondroplasia, who supported abortion, and who believed that achondroplasia is a serious condition without any accompanying advantages (p < 0.01). Those respondents who felt positively toward offering the prenatal test for individuals at risk for homozygous achondroplasia were more likely to have lower mean quality of life scores and to support abortion in general (p < 0.05). Conclusion: These data suggest that opinions about prenatal screening are heterogeneous within this study population and are related to individuals' experiences and perceptions of the condition. Future research is needed to assess attitudes toward population screening and quality of life in communities of individuals affected with genetic conditions, both to support policy decisions and to inform the education and counseling provided in the prenatal setting.

Original languageEnglish (US)
Pages (from-to)1003-1008
Number of pages6
JournalPrenatal Diagnosis
Issue number12
StatePublished - Dec 1 2003


  • Achondroplasia
  • Population screening
  • Prenatal testing
  • Quality of life

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


Dive into the research topics of 'Living with achondroplasia: Attitudes toward population screening and correlation with quality of life'. Together they form a unique fingerprint.

Cite this