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<br />▪ 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.<div><br />Key messages<br />▪ Carrier screening for fragile X syndrome is the subject of debate because of concerns around education and counselling for this complex condition<br />and the potential for psychosocial harms. <br />▪ 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.<br /><br />Strengths and limitations of this study<br />▪ 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.<br />▪ Collecting quantitative and qualitative data will provide a more in-depth picture of screening for fragile X syndrome.<br />▪ 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.</div>