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Int. J. Neonatal Screen. 2018, 4(4), 41; https://doi.org/10.3390/ijns4040041

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

1
Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan
2
Department of Pediatrics, National Taiwan University College of Medicine, Taipei 10041, Taiwan
3
Department of Pediatrics, National Taiwan University Children Hospital, Taipei 10041, Taiwan
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Received: 26 September 2018 / Revised: 18 November 2018 / Accepted: 13 December 2018 / Published: 18 December 2018
(This article belongs to the Special Issue Newborn Screening for Lysosomal Storage Disorders)
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Abstract

Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapted widely. The National Taiwan University Hospital Newborn Screening Center launched the four-plex tandem mass spectrometry LSD newborn screening test in 2015. The test determined activities of acid α-glucosidase (GAA; Pompe), acid α-galactosidase (GLA; Fabry), acid β-glucocerebrosidase (ABG; Gaucher), and acid α-l-iduronidase (IDUA; MPS-I) in dried blood spots (DBS). Through 2017, 64,148 newborns were screened for these four LSDs. The screening algorithm includes enzyme activity/ratio as the cutoffs for the first screening test and a second-tier test for Pompe disease screening. The second-tier Pompe disease screening test measured activity inhibition by acarbose. Twenty-nine newborns required a confirmatory test; six were confirmed to have Pompe disease, and nine were confirmed to have Fabry disease. The screen-positive rate for Pompe disease was 0.031%. Therefore, in Pompe disease newborn screening, a validated 2nd tier test is necessary to decrease false positives. View Full-Text
Keywords: Pompe newborn screening; tandem mass spectrometry; Gaucher newborn screening; Fabry newborn screening; accuracy Pompe newborn screening; tandem mass spectrometry; Gaucher newborn screening; Fabry newborn screening; accuracy
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Chiang, S.-C.; Chen, P.-W.; Hwu, W.-L.; Lee, A.-J.; Chen, L.-C.; Lee, N.-C.; Chiou, L.-Y.; Chien, Y.-H. Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease. Int. J. Neonatal Screen. 2018, 4, 41.

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Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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