Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

Abstract

by Francyne Kubaski,Inês Sousa,Tatiana Amorim,Danilo Pereira,Joe Trometer,Alexandre Souza,Enzo Ranieri,Giulia Polo,Alberto Burlina,Ana Carolina Brusius-Facchin,Alice Brinckmann Oliveira Netto,Shunji Tomatsu andRoberto Giugliani
Int. J. Neonatal Screen. 2020, 6(4), 90; https://doi.org/10.3390/ijns6040090 - 15 FEB 2022
Cited by 7 | Viewed by 3033
Abstract
Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Mucopolysaccharidoses (MPS) are lysosomal storage disorders than can benefit from an early diagnosis, and thus are being recommended for newborn screening. They are multisystemic progressive disorders, with treatment options already available for several MPS types. MPS I was the first MPS disorder enrolled in the newborn screening (NBS) panel in the USA and a few other countries, and other MPS types are expected to be added. Very few studies about NBS for MPS in Latin America have been published so far. In this review, we report the results of pilot studies performed in Mexico and Brazil using different methodologies: tandem mass spectrometry, molecular analysis, digital microfluidics, and fluorimetry. These experiences are important to report and discuss, as we expect to have several MPS types added to NBS panels shortly. This addition will enable timely diagnosis of MPS, avoiding the long diagnostic odyssey that is part of the current natural history of this group of diseases, and leading to a better outcome for the affected patients. Full article
(This article belongs to the Special Issue Neonatal Screening for Mucopolysaccharidoses)
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17 pages, 2976 KiB
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