The FaXeS Study. Offering fragile X carrier testing to women: comparing prenatal and preconception screening.

脆性X综合征是遗传性智力残疾的主要原因。基因筛查测试可用于检测这种情况的携带者。通过问卷调查和访谈，我们将直接比较一般社区中孕妇和非孕妇的携带者筛查，关注知情决策、检测摄取及其预测因素和成本效益等问题。这将是为基因筛查计划提供政策和指导方针的关键。

Fragile X syndrome is the leading cause of inherited intellectual disability. A genetic screening test is available to detect carriers of this condition. Using questionnaires and interviews we will directly compare carrier screening in pregnant and non-pregnant women in the general community, looking at issues such as informed decision-making, test uptake and its predictors and cost-effectiveness. This will be critical to inform policy and guidelines for genetic screening programs.