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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

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journal contribution
posted on 2013-01-01, 00:00 authored by M Martyn, V Anderson, A Archibald, Rob CarterRob Carter, J Cohen, M Delatycki, S Donath, J Emery, J Halliday, M Hill, L Sheffield, H Slater, F Tassone, Sandra YounieSandra Younie, S Metcalfe
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.

History

Journal

BMJ open

Volume

3

Issue

9

Publisher

B M J Group

Location

London, England

ISSN

2044-6055

Language

eng

Publication classification

C1 Refereed article in a scholarly journal

Copyright notice

2013, B M J Group