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Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives
Francyne Kubaski1,2,3, Inês Sousa4, Tatiana Amorim4
1Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90040-060, Brazil.
Insights
Newborn screening for Mucopolysaccharidoses (MPS) offers early diagnosis and intervention. Pilot studies in Mexico and Brazil show promise for expanding newborn screening panels to include more MPS types.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Newborn screening (NBS) is crucial for early detection of treatable genetic disorders, preventing severe health outcomes.
- Mucopolysaccharidoses (MPS) are progressive lysosomal storage diseases benefiting from early diagnosis and available treatments.
- Expanding NBS panels to include MPS types is recommended due to their potential for early intervention.
Purpose of the Study:
- To review pilot studies on newborn screening for MPS in Latin America.
- To discuss the methodologies and results of these pilot studies.
- To highlight the importance of expanding NBS for MPS in the region.
Main Methods:
- Pilot studies conducted in Mexico and Brazil.
- Utilized diverse methodologies including tandem mass spectrometry, molecular analysis, digital microfluidics, and fluorimetry.
- Focused on assessing the feasibility and effectiveness of NBS for MPS.
Main Results:
- Demonstrated the successful implementation of pilot NBS programs for MPS in Mexico and Brazil.
- Provided data on the performance of various diagnostic technologies for MPS detection.
- Highlighted the potential for timely MPS diagnosis through NBS.
Conclusions:
- Pilot studies confirm the viability of NBS for MPS in Latin America.
- Expanding NBS panels for MPS can shorten the diagnostic odyssey for affected children.
- Early diagnosis through NBS leads to improved patient outcomes for MPS.
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.
