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

点击翻译按钮获取中文摘要

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.