Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening

Sylvia A. Metcalfe, Melissa Martyn, Alice Ames, Vicki Anderson, Alison D. Archibald, Rob Carter, Jonathan Cohen, Megan Cotter, William Dang, Martin B. Delatycki, Susan Donath, Samantha Edwards, Robin Forbes, Mioara Gavrila, Jane Halliday, Chriselle Hickerton, Melissa Hill, Lorilli Jacobs, Vicki Petrou, Loren PlunkettLeslie Sheffield, Alison Thornton, Sandra Younie, Jon D. Emery

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    Purpose: Population-based carrier screening for fragile X syndrome (FXS) is still not universally endorsed by professional organizations due to concerns around genetic counseling for complex information and potential for psychosocial harms. Methods: We determined uptake levels, decision making, and psychosocial impact in a prospective study of pregnant and nonpregnant Australian women offered FXS carrier screening in clinical settings. Women received pretest genetic counseling, and completed questionnaires when deciding and one month later. Results: Of 1,156 women recruited, 83.1% returned the first questionnaire with 70.6% nonpregnant and 58.8% pregnant women choosing testing (χ2 =16.98, Po0.001). Overall, informed choice was high in both nonpregnant (77.4%) and pregnant (72.9%) women (χ2 =0.21, P= 0.644), and more tested (76.0%) than nottested (66.7%) women (χ2=6.35, P=0.012) made an informed choice. Measures of depression, stress, and anxiety were similar to population norms for - 85% of women. Decisional conflict and regret were generally low; however, decisional uncertainty and regret were greater in pregnant than nonpregnant women, and not-tested than tested women (uncertainty: χ22=18.51, Po0.001 and χ2 =43.11, Po0.001, respectively; regret: χ2 =6.61, Po0.037 and χ2 =35.54, Po0.001, respectively). Conclusion: We provide evidence to inform guidelines that population FXS carrier screening can be implemented with minimal psychosocial harms following appropriate information and prescreening genetic counseling.

    Original languageEnglish
    Pages (from-to)1346-1355
    Number of pages10
    JournalGenetics in Medicine
    Issue number12
    Publication statusPublished - 1 Jan 2017


    • Fragile X syndrome
    • Informed choice
    • Informed decision making
    • Population carrier screening
    • Psychosocial outcomes

    Cite this

    Metcalfe, S. A., Martyn, M., Ames, A., Anderson, V., Archibald, A. D., Carter, R., Cohen, J., Cotter, M., Dang, W., Delatycki, M. B., Donath, S., Edwards, S., Forbes, R., Gavrila, M., Halliday, J., Hickerton, C., Hill, M., Jacobs, L., Petrou, V., ... Emery, J. D. (2017). Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening. Genetics in Medicine, 19(12), 1346-1355.