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Extended newborn screening using DNA methylation testing for fragile X syndrome in 17,107 infants.
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DOI：10.1016/j.gim.2026.102646.png)
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Abstract
En 中文
There is interest in newborn screening for fragile X syndrome (FXS) due to the potential benefits of early diagnosis and treatment, and prevention of future affected births though informed reproductive choices. This study examined the feasibility of newborn screening for FXS at population scale.
Keywords:
fragile X syndrome
newborn screening
DNA methylation
FMR1
full mutation
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