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Current State of the Art of Newborn Screening for Lysosomal Storage Disorders.

Publication ,  Journal Article
Millington, DS; Bali, DS
Published in: Int J Neonatal Screen
September 2018

Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is currently practiced in a few NBS programs, and several others are actively pursuing this course of action. Two platforms suitable for multiple LSD screening-tandem mass spectrometry (MS/MS) and digital microfluidic fluorometry (DMF)-are now commercially available with reagent kits. In this article, we review the methods currently used for prospective NBS for LSDs and objectively compare their workflows and the results from two programs in the United States that screen for the same four LSDs, one using MS/MS and the other DMF. The results show that the DMF platform workflow is simpler and generates results faster than MS/MS, enabling results reporting on the same day as specimen analysis. Furthermore, the performance metrics for both platforms while not identical, are broadly similar and do not indicate the superior performance of one method over the other. Results show a preponderance of inconclusive results for Pompe and Fabry diseases and for Hurler syndrome, due to genetic heterogeneity and other factors that can lead to low enzyme activities, regardless of the screening method. We conclude that either platform is a good choice but caution that post-analytical tools will need to be applied to improve the positive predictive value for these conditions.

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Published In

Int J Neonatal Screen

DOI

EISSN

2409-515X

Publication Date

September 2018

Volume

4

Issue

3

Start / End Page

24

Location

Switzerland
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Millington, D. S., & Bali, D. S. (2018). Current State of the Art of Newborn Screening for Lysosomal Storage Disorders. Int J Neonatal Screen, 4(3), 24. https://doi.org/10.3390/ijns4030024
Millington, David S., and Deeksha S. Bali. “Current State of the Art of Newborn Screening for Lysosomal Storage Disorders.Int J Neonatal Screen 4, no. 3 (September 2018): 24. https://doi.org/10.3390/ijns4030024.
Millington DS, Bali DS. Current State of the Art of Newborn Screening for Lysosomal Storage Disorders. Int J Neonatal Screen. 2018 Sep;4(3):24.
Millington, David S., and Deeksha S. Bali. “Current State of the Art of Newborn Screening for Lysosomal Storage Disorders.Int J Neonatal Screen, vol. 4, no. 3, Sept. 2018, p. 24. Pubmed, doi:10.3390/ijns4030024.
Millington DS, Bali DS. Current State of the Art of Newborn Screening for Lysosomal Storage Disorders. Int J Neonatal Screen. 2018 Sep;4(3):24.

Published In

Int J Neonatal Screen

DOI

EISSN

2409-515X

Publication Date

September 2018

Volume

4

Issue

3

Start / End Page

24

Location

Switzerland