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

Abstract

Article focus▪ This article is a protocol of a study that involves&nbsp;offering fragile X syndrome carrier screening to&nbsp;pregnant and non-pregnant women in the&nbsp;general population. We are undertaking a programme&nbsp;evaluation approach using mixed&nbsp;methods to collect data about informed decisionmaking&nbsp;and predictors of test uptake, with a&nbsp;focus on psychosocial measures. We are also&nbsp;undertaking an economic appraisal.Key messages▪ Carrier screening for fragile X syndrome is the&nbsp;subject of debate because of concerns around&nbsp;education and counselling for this complex conditionand the potential for psychosocial harms. ▪ This study will inform policy and practice in the&nbsp;area of population carrier screening by examining&nbsp;psychosocial aspects of screening, including&nbsp;informed decision-making; models of screening,&nbsp;through antenatal care or other access points&nbsp;and health economics of carrier screening for&nbsp;fragile X syndrome.Strengths and limitations of this study▪ This study seeks to recruit 1000 women in total.&nbsp;This large sample size will give us sufficient&nbsp;power to address the aims of the study.▪ Collecting quantitative and qualitative data will&nbsp;provide a more in-depth picture of screening for&nbsp;fragile X syndrome.▪ A limitation of the study is that the data on&nbsp;models of screening may not be applicable to&nbsp;other countries that have different healthcare&nbsp;systems.</div