Journal of Genetic Counseling

, Volume 14, Issue 4, pp 295–306

Women’s Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis

  • Aimee Anido
  • Lisa M Carlson
  • Lisa Taft
  • Stephanie L. Sherman
Original Research

DOI: 10.1007/s10897-005-1159-6

Cite this article as:
Anido, A., Carlson, L.M., Taft, L. et al. J Genet Counsel (2005) 14: 295. doi:10.1007/s10897-005-1159-6
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Abstract

Fragile X syndrome (FXS) is primarily due to a repeat expansion mutation found in the FMR1 X-linked gene. We have conducted a qualitative analysis of responses from women concerning their attitudes toward testing for carrier status of the fragile X mutation among reproductive-age women. We obtained responses from focus groups including women with and without FXS in their families. We found the following themes: (1) mothers of children with FXS have difficulty formulating their opinions on population screening because of their unique experiences surrounding their own carrier diagnosis and their relationship with their children with FXS, (2) the motivation for carrier testing and need for information differ by family history of FXS and parental status, and (3) the timing of carrier testing with respect to a woman’s life stage dictates whether carrier information will be viewed as beneficial or detrimental. There was evidence that non-carrier women from the general population would be wholly unprepared for positive carrier results. These findings have significant implications for genetic counseling as well as for population screening.

Keywords

population screeningfragile X carriersfocus groupcarrier testing

Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  • Aimee Anido
    • 1
  • Lisa M Carlson
    • 2
  • Lisa Taft
    • 1
  • Stephanie L. Sherman
    • 1
    • 3
  1. 1.Department of Human GeneticsEmory University School of MedicineAtlanta
  2. 2.Rollins School of Public HealthEmory UniversityAtlanta
  3. 3.Department of Human GeneticsEmory University School of MedicineAtlanta