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.
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
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.
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