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

FaXeS 研究。

• 批准号: nhmrc : 607320
• 负责人: A/Pr Leslie Sheffield
• 金额: $ 28.86万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2010
• 资助国家: 澳大利亚
• 起止时间: 2010-01-01 至 2013-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/faxes-study-offering-preconception-screening/96484
• 关键词: FaXeS; Study.; Offering; fragile; carrier

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.

脆性X染色体综合征是遗传性智力残疾的主要原因。一种基因筛选测试可用于检测这种疾病的携带者。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，研究诸如知情决策、测试接受及其预测因素和成本效益等问题。这将对遗传筛查项目的政策和指导方针至关重要。