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

• Main Authors: Tiffany Wotton (Author), Veronica Wiley (Author), Bruce Bennetts (Author), Louise Christie (Author), Bridget Wilcken (Author), Gemma Jenkins (Author), Carolyn Rogers (Author), Jackie Boyle (Author), Michael Field (Author)
• Format: Book
• Published: MDPI AG, 2018-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...