Feasibility of Screening for Chromosome 15 Imprinting Disorders

January 4, 2022
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, MS1et 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.

Read More

Related Posts

2nd Annual Lucas T. Ahn Family Scholarship

2nd Annual Lucas T. Ahn Family Scholarship

The family of Lucas T. Ahn is proud to offer the second annual Lucas T. Ahn Family Scholarship Opportunity. The family of Lucas T. Ahn is passionate about giving opportunities to the next generation of students who are committed to studying and pursing basic research...

Rare Epilepsy Partnership Award

Rare Epilepsy Partnership Award

Dup15q Alliance is proud to be selected for the Cure Epilepsy Rare Epilepsy Partnership Award. This award is co-funded by CURE Epilepsy and Dup15q Alliance. The Dup15q Alliance is pleased to announce the granting of a Rare Epilepsy Partnership Award to Ype Elgersma,...