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Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report

1
Baebies, Inc., Durham, NC 27709, USA
2
Duke University Hospital Biochemical Genetics Lab, Durham, NC 27709, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(4), 78; https://doi.org/10.3390/ijns6040078
Received: 11 September 2020 / Revised: 29 September 2020 / Accepted: 4 October 2020 / Published: 8 October 2020
(This article belongs to the Special Issue Neonatal Screening for Mucopolysaccharidoses)
Newborn screening (NBS) for mucopolysaccharidosis type I (MPS I, Hurler syndrome) is currently conducted in about two-fifths of the NBS programs in the United States and in a few other countries. Screening is performed by measurement of residual activity of the enzyme alpha-l-iduronidase in dried blood spots using either tandem mass spectrometry or digital microfluidic fluorometry (DMF). In this article, we focus on the development and practical experience of using DMF to screen for MPS I in the USA. By means of their responses to a questionnaire, we determined for each responding program that is screening for MPS I using DMF the screen positive rate, follow-up methods, and classification of confirmed cases as either severe or attenuated. Overall, the results show that at the time of reporting, over 1.3 million newborns in the US were screened for MPS I using DMF, 2094 (0.173%) of whom were screen positive. Of these, severe MPS I was confirmed in five cases, attenuated MPS I was confirmed in two cases, and undetermined phenotype was reported in one case. We conclude that DMF is an effective and economical method to screen for MPS I and recommend second-tier testing owing to high screen positive rates. Preliminary results of NBS for MPS II and MPS III using DMF are discussed. View Full-Text
Keywords: newborn screening; digital microfluidics; Hurler syndrome; alpha-L-iduronidase assay; dried blood spots newborn screening; digital microfluidics; Hurler syndrome; alpha-L-iduronidase assay; dried blood spots
MDPI and ACS Style

Washburn, J.; Millington, D.S. Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report. Int. J. Neonatal Screen. 2020, 6, 78.

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