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

脆性X综合征(FXS)是由FMR1基因表观遗传沉默引起的智力残疾和自闭症共病的常见可遗传原因。这将是世界上最大的FXS突变患病率研究，使用一种针对表观遗传学变化的新型测试在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、成本和好处，并就扩大澳大利亚目前的新生儿筛查范围提供结论。

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.