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

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)


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 (chi(2) = 16.98, P <0.001). Overall, informed choice was high in both nonpregnant (77.4%) and pregnant (72.9%) women (chi(2) = 0.21, P = 0.644), and more tested (76.0%) than nottested (66.7%) women (chi(2) = 6.35, P = 0.012) made an informed choice. Measures of depression, stress, and anxiety were similar to population norms for similar to 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: chi(2) = 18.51, P <0.001 and chi(2) = 43.11, P <0.001, respectively; regret: chi(2) = 6.61, P <0.037 and chi(2) = 35.54, P <0.001, 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 - Dec 2017


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