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Related Experiment Video

Updated: Dec 5, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.

Tiffany Wotton1, Veronica Wiley1,2, Bruce Bennetts2,3

  • 1The NSW Newborn Screening Programme, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.

International Journal of Neonatal Screening
|October 19, 2020
PubMed
Summary

This study piloted newborn screening for Fragile X syndrome (FXS) in Australia using dried blood spots. The chimeric primer PCR assay proved reliable but may be better suited as a secondary test due to cost-effectiveness concerns.

Keywords:
fragile X syndromenewborn screening

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Area of Science:

  • Genetics
  • Molecular Biology
  • Public Health

Background:

  • Fragile X syndrome (FXS) is a leading genetic cause of cognitive impairment.
  • Current newborn screening (NBS) programs in Australia do not include FXS.
  • Assessing FXS screening feasibility is crucial for early intervention.

Purpose of the Study:

  • To evaluate the feasibility and reliability of population-based FXS screening.
  • To test a modified PCR assay using routine NBS dried blood spot samples.
  • To determine the cost-effectiveness of FXS screening.

Main Methods:

  • A pilot study involving 1971 mothers and 2000 newborns.
  • DNA extraction from routine NBS dried blood spots.
  • Modified PCR assay with a chimeric CGG primer, validated against a routine PCR assay.

Main Results:

  • The chimeric primer assay accurately detected fragile X alleles (normal, premutation, full mutation).
  • Complete concordance was observed between the chimeric and routine PCR assays.
  • The cost per test was $AUD19, with 10 cases of premutation alleles identified.

Conclusions:

  • Fragile X status can be determined from routine NBS samples using the chimeric primer assay.
  • The assay's cost-effectiveness for population screening is questionable.
  • Consideration as a second-tier assay to an FMRP immunoassay may be viable.