Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
David E. Godler, PhD1,2,3Ling Ling, MD1Dinusha Gamage, MS1; et al
Key Points
Question Is newborn screening feasible for chromosome 15 imprinting disorders, including Prader-Willi, Angelman, and Dup15q syndromes, using SNRPN methylation analysis?
Findings This diagnostic study involved validation of a novel methylation test on 1356 samples, showing high sensitivity and specificity and positive and negative predictive values to differentiate newborn blood spots and blood, saliva, and buccal DNA of 109 Prader-Willi, 48 Angelman, and 9 Dup15q patient samples from neurotypical control samples. Newborn blood spots from 16 579 infants from the general population were then tested, identifying 2 with Prader-Willi syndrome, 2 with Angelman syndrome, and 1 with Dup15q syndrome.
Meaning The findings of this study suggest that it is feasible to screen for all chromosome 15 imprinting disorders using SNRPN methylation analysis.