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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

Martyn, M., Anderson, V., Archibald, A., Carter, R., Cohen, J., Delatycki, M., Donath, S., Emery, J., Halliday, J., Hill, M., Sheffield, L., Slater, H., Tassone, F., Younie, S. and Metcalfe, S. 2013, 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, BMJ open, vol. 3, no. 9.

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Title 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
Author(s) Martyn, M.
Anderson, V.
Archibald, A.
Carter, R.
Cohen, J.
Delatycki, M.
Donath, S.
Emery, J.
Halliday, J.
Hill, M.
Sheffield, L.
Slater, H.
Tassone, F.
Younie, S.
Metcalfe, S.
Journal name BMJ open
Volume number 3
Issue number 9
Total pages 11
Publisher B M J Group
Place of publication London, England
Publication date 2013
ISSN 2044-6055
Keyword(s) fragile X syndrome
intellectual and developmental disability
psychosocial aspects
pregnant women
non-pregnant women
informed decision-making
population carrier screening
Summary Article focus
▪ This article is a protocol of a study that involves offering fragile X syndrome carrier screening to pregnant and non-pregnant women in the general population. We are undertaking a programme evaluation approach using mixed methods to collect data about informed decisionmaking and predictors of test uptake, with a focus on psychosocial measures. We are also undertaking an economic appraisal.

Key messages
▪ Carrier screening for fragile X syndrome is the subject of debate because of concerns around education and counselling for this complex condition
and the potential for psychosocial harms.
▪ This study will inform policy and practice in the area of population carrier screening by examining psychosocial aspects of screening, including informed decision-making; models of screening, through antenatal care or other access points and health economics of carrier screening for fragile X syndrome.

Strengths and limitations of this study
▪ This study seeks to recruit 1000 women in total. This large sample size will give us sufficient power to address the aims of the study.
▪ Collecting quantitative and qualitative data will provide a more in-depth picture of screening for fragile X syndrome.
▪ A limitation of the study is that the data on models of screening may not be applicable to other countries that have different healthcare systems.
Language eng
Field of Research 110311 Medical Genetics (excl Cancer Genetics)
Socio Economic Objective 920507 Women's Health
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2013, B M J Group
Persistent URL http://hdl.handle.net/10536/DRO/DU:30060487

Document type: Journal Article
Collections: Population Health
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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.