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Title: Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.
Austin Authors: Metcalfe, Sylvia A;Martyn, Melissa;Ames, Alice;Anderson, Vicki;Archibald, Alison D;Carter, Rob;Cohen, Jonathan;Cotter, Megan ;GenCouns, M;Dang, William;Delatycki, Martin B ;Donath, Susan;Edwards, Samantha;Educ, PGrad Dip;Forbes, Robin;Gavrila, Mioara;MedSci, M;Halliday, Jane;Hickerton, Chriselle;Hill, Melissa;Jacobs, Lorilli;Ultrasound, PGrad Dip;Petrou, Vicki;Plunkett, Loren;Sheffield, Leslie;Racp, F;Thornton, Alison;Couns, Grad Dip Gen;Younie, Sandra;Econ, PGrad Dip Hlth;Emery, Jon D
Affiliation: Murdoch Childrens Research Institute, Melbourne, Victoria, Australia
Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia
Royal Children's Hospital, Melbourne, Victoria, Australia
Victorian Clinical Genetics Services, Melbourne, Victoria, Australia
Faculty of Health, Deakin Health Economics, Deakin University, Melbourne, Victoria, Australia
Fragile X Alliance Clinic and Centre for Developmental Disability Health Victoria, Monash University, Melbourne, Victoria, Australia
Austin Health, Heidelberg, Victoria, Australia
Australian Clinical Labs (formerly Healthscope Pathology), Clayton, Victoria, Australia
School of Primary Aboriginal and Rural Health Care, University of Western Australia
Great Ormond Street Hospital for Children, London, UK
MyDNA Life Australia, Melbourne, Victoria, Australia
Department of General Practice, The University of Melbourne, Melbourne, Victoria, Australia
Issue Date: Dec-2017
Date: 2017-06-29
Publication information: Genetics in medicine : official journal of the American College of Medical Genetics 2017; 19(12): 1346-1355
Abstract: PurposePopulation-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.
DOI: 10.1038/gim.2017.67
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
PubMed URL: 28661491
Type: Journal Article
Appears in Collections:Journal articles

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