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Genet Med. 2017 Dec;19(12):1346-1355. doi: 10.1038/gim.2017.67. Epub 2017 Jun 29.

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

Author information

1
Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
2
Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
3
Royal Children's Hospital, Melbourne, Victoria, Australia.
4
Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.
5
Faculty of Health, Deakin Health Economics, Deakin University, Melbourne, Victoria, Australia.
6
Fragile X Alliance Clinic and Centre for Developmental Disability Health Victoria, Monash University, Melbourne, Victoria, Australia.
7
Austin Health, Melbourne, Victoria, Australia.
8
Australian Clinical Labs (formerly Healthscope Pathology), Clayton, Victoria, Australia.
9
School of Primary Aboriginal and Rural Health Care, University of Western Australia.
10
Great Ormond Street Hospital for Children, London, UK.
11
MyDNA Life Australia, Melbourne, Victoria, Australia.
12
Department of General Practice, The University of Melbourne, Melbourne, Victoria, Australia.

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.

PMID:
28661491
DOI:
10.1038/gim.2017.67
[Indexed for MEDLINE]

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