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

脆性X染色体综合征（FXS）是智力残疾和共病自闭症的常见遗传原因，由FMR1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，使用一种针对表观遗传变化的新型测试，在10万名新生儿中进行，并将探索与FXS新生儿筛查相关的预后结果、成本和收益，并提供有关扩大澳大利亚当前新生儿筛查以包括FXS的结论。

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.