Journal article
Offering fragile X syndrome carrier screening: A prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population
M Martyn, V Anderson, A Archibald, R Carter, J Cohen, M Delatycki, S Donath, J Emery, J Halliday, M Hill, L Sheffield, H Slater, F Tassone, S Younie, S Metcalfe
BMJ Open | Published : 2013
Abstract
Introduction: Fragile X syndrome (FXS) is the leading cause of inherited intellectual and developmental disability. Policy development relating to carrier screening programmes for FXS requires input from large studies examining not only test uptake but also psychosocial aspects. This study will compare carrier screening in pregnant and non-pregnant populations, examining informed decision-making, psychosocial issues and health economics. Methods and Analysis: Pregnant and non-pregnant women are being recruited from general practices and obstetric services. Women receive study information either in person or through clinic mail outs. Women are provided pretest counselling by a genetic counsel..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by a National Health and Medical Research Council project grant (607320) and the Victorian Government's Operational Infrastructure Support Programme. Funding was also received from the Shepherd Foundation, Helen Macpherson Smith Trust, the Apex Foundation, the Fragile X Alliance Inc and theme funding from the Murdoch Childrens Research Institute.