Extended newborn screening using DNA methylation testing for fragile X syndrome in 17,107 infants.

Authors

David E Godler, Ling Ling, Dinusha Gamage, Minh Bui, Michael J Field, David J Amor

Published in

Genetics in medicine : official journal of the American College of Medical Genetics. Pages 102646. Jul 07, 2026. Epub Jul 07, 2026.

Abstract

There is interest in newborn screening for fragile X syndrome (FXS) due to the potential benefits of early diagnosis and treatment, and prevention of future affected births though informed reproductive choices. This study examined the feasibility of newborn screening for FXS at population scale.
Methylation Specific Quantitative Melt Analysis (MS-QMA) of FMR1 was used for 1^st-tier screening of newborn blood spots (NBS) from a population sample of 17,107 infants, with sex confirmed using real-time PCR. EpiTYPER system methylation analyses and Ampidex CGG sizing PCR were performed on MS-QMA positive NBS.
Following 1^st-tier testing, methylation results suggestive of FXS were detected in 3 males and 36 females. AmplideX and EpiTYPER 2^nd-tier testing confirmed a confirmed diagnosis of FXS in two males and identified a FM in one female. One male was confirmed to have abnormal methylation by EpiTYPER testing, with a 22 CGG allele detected by AmplideX. Two females with abnormal methylation had a FMR1 premutation (PM: 55 to 158 CGG repeats) that does not cause FXS.
MS-QMA was a feasible 1^st-tier newborn screening test in both sexes, with 3 infants showing confirmatory testing results consistent with FXS identified out of 17,107 infants screened.

PMID:
42417138
Bibliographic data and abstract were imported from PubMed on 08 Jul 2026.

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