Article
Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Pediatrics - 1 Jun 2017
Bailey Donald B, Berry-Kravis Elizabeth, Gane Louise W, Guarda Sonia, Hagerman Randi, Powell Cynthia M, Tassone Flora, Wheeler Anne
Abstract excerpt
BACKGROUND: Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot...
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