Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening for FXS using a pilot study in one hospital. A total...

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Bibliographic Details
Main Authors: Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field
Format: Article
Language:English
Published: MDPI AG 2018-02-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
fragile X syndrome
Online Access:http://www.mdpi.com/2409-515X/4/1/9

Internet

http://www.mdpi.com/2409-515X/4/1/9

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