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

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journal contribution
posted on 2017-12-01, 00:00 authored by S A Metcalfe, M Martyn, A Ames, V Anderson, A D Archibald, Rob CarterRob Carter, J Cohen, M Cotter, W Dang, M B Delatycki, S Donath, S Edwards, R Forbes, M Gavrila, J Halliday, C Hickerton, M Hill, L Jacobs, V Petrou, L Plunkett, L Sheffield, A Thornton, Sandra YounieSandra Younie, J D Emery
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.MethodsWe 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.ResultsOf 1,156 women recruited, 83.1% returned the first questionnaire with 70.6% nonpregnant and 58.8% pregnant women choosing testing (χ2=16.98, P<0.001). 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 not-tested (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: χ2=18.51, P<0.001 and χ2=43.11, P<0.001, respectively; regret: χ2=6.61, P<0.037 and χ2=35.54, P<0.001, respectively).ConclusionWe provide evidence to inform guidelines that population FXS carrier screening can be implemented with minimal psychosocial harms following appropriate information and prescreening genetic counseling.

History

Journal

Genetics in medicine

Volume

19

Issue

12

Pagination

1346 - 1355

Publisher

Nature Publishing Group

Location

London, Eng.

eISSN

1530-0366

Language

eng

Publication classification

C Journal article; C1 Refereed article in a scholarly journal

Copyright notice

2017, The Authors