Journal article
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening
SA Metcalfe, M Martyn, A Ames, V Anderson, AD Archibald, R Carter, J Cohen, M Cotter, W Dang, MB Delatycki, S Donath, S Edwards, R Forbes, M Gavrila, J Halliday, C Hickerton, M Hill, L Jacobs, V Petrou, L Plunkett Show all
Genetics in Medicine | Published : 2017
DOI: 10.1038/gim.2017.67
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, Po..
View full abstractGrants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
We acknowledge funding support from National Health and Medical Research Council (NHMRC) Project Grant ID 607320, the Shepherd Foundation, the Helen Macpherson Smith Trust, the Apex Foundation, the Bennelong Foundation, the Fragile X Alliance, and Murdoch Childrens Research Institute. J.H. is funded by an NHMRC Fellowship. J.E. is funded by an NHMRC Practitioner Fellowship. We thank Renee Dow, Annette Opat, Kate Pope, Gabrielle Reid, and Kellie Sullivan for help with recruitment; Jan Hodgson, Belinda McClaren, and Melody Menezes for assistance with pretest counseling; David Francis, Devika Ganesamoorthy, Louise Hills, Erin Turbitt, and Jonathan Whitty for support with molecular testing; and Mark Adams for assistance with data entry.