Novel Fragile X Syndrome prevalence estimates in 100,000 Australian newborns, prognostic and health-economic outcomes: a retrospective newborn screening study

100,000 名澳大利亚新生儿的新型脆性 X 综合征患病率估计、预后和健康经济结果：一项回顾性新生儿筛查研究

• 批准号: nhmrc : 1103389
• 负责人: A/Pr Howard Slater
• 金额: $ 52.79万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 2018-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/novel-fragile-x-screening-study/662675
• 关键词: Novel; Fragile; Syndrome; prevalence; estimates

Fragile X syndrome (FXS) is a common heritable cause of intellectual disability and co-morbid autism, caused by epigenetic silencing of the FMR1 gene. This will be the world’s largest FXS mutation prevalence study conducted in 100,000 newborns using a novel test targeting epigenetic changes, and will also explore the prognostic outcomes, costs and benefits associated with FXS newborn screening, providing conclusions regarding expanding the current newborn screening in Australia to include FXS.

脆性X综合征（FXS）是智力残疾和共病自闭症的常见遗传原因，由FMR 1基因的表观遗传沉默引起。这将是世界上最大的FXS突变流行率研究，使用针对表观遗传变化的新型测试在10万名新生儿中进行，还将探索与FXS新生儿筛查相关的预后结果，成本和效益，提供有关扩大澳大利亚目前新生儿筛查以包括FXS的结论。