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Article

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

by
Tiffany Wotton
1,*,
Veronica Wiley
1,2,
Bruce Bennetts
2,3,
Louise Christie
4,
Bridget Wilcken
1,2,
Gemma Jenkins
3,
Carolyn Rogers
4,
Jackie Boyle
4 and
Michael Field
4
1
The NSW Newborn Screening Programme, The Children’s Hospital at Westmead, Westmead, NSW 2145, Australia
2
Disciplines of Paediatrics & Child Health and Genetic Medicine, The University of Sydney, Sydney, NSW 2006, Australia
3
Sydney Genome Diagnostics—Department of Molecular Genetics, The Children’s Hospital at Westmead, Westmead, NSW 2145, Australia
4
Genetics of Learning Disability, Hunter Genetics, Waratah, NSW 2298, Australia
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2018, 4(1), 9; https://doi.org/10.3390/ijns4010009
Submission received: 17 November 2017 / Revised: 16 January 2018 / Accepted: 23 January 2018 / Published: 13 February 2018
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Abstract

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 of 1971 mothers consented for 2000 newborns to be tested using routine NBS dried blood spot samples. DNA was extracted and a modified PCR assay with a chimeric CGG primer was used to detect fragile X alleles in both males and females in the normal, premutation, and full mutation ranges. A routine PCR-based fragile X assay was run in parallel to validate the chimeric primer assay. Babies with CGG repeat number ≥59 were referred for family studies. One thousand nine hundred and ninety NBS samples had a CGG repeat number less than 55 (1986 < 50); 10 had premutation alleles >54 CGG repeats (1/123 females and 1/507 males). There was complete concordance between the two PCR-based assays. A recent review revealed no clinically identified cases in the cohort up to 5 years later. The cost per test was $AUD19. Fragile X status can be determined on routine NBS samples using the chimeric primer assay. However, whilst this assay may not be considered cost-effective for population screening, it could be considered as a second-tier assay to a developed immunoassay for fragile X mental retardation protein (FMRP).
Keywords: newborn screening; fragile X syndrome newborn screening; fragile X syndrome

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MDPI and ACS Style

Wotton, T.; Wiley, V.; Bennetts, B.; Christie, L.; Wilcken, B.; Jenkins, G.; Rogers, C.; Boyle, J.; Field, M. Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study. Int. J. Neonatal Screen. 2018, 4, 9. https://doi.org/10.3390/ijns4010009

AMA Style

Wotton T, Wiley V, Bennetts B, Christie L, Wilcken B, Jenkins G, Rogers C, Boyle J, Field M. Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study. International Journal of Neonatal Screening. 2018; 4(1):9. https://doi.org/10.3390/ijns4010009

Chicago/Turabian Style

Wotton, Tiffany, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, and Michael Field. 2018. "Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study" International Journal of Neonatal Screening 4, no. 1: 9. https://doi.org/10.3390/ijns4010009

APA Style

Wotton, T., Wiley, V., Bennetts, B., Christie, L., Wilcken, B., Jenkins, G., Rogers, C., Boyle, J., & Field, M. (2018). Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study. International Journal of Neonatal Screening, 4(1), 9. https://doi.org/10.3390/ijns4010009

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