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

Abstract

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.