Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

Neto, Eurico Camargo; Schulte, Jaqueline; Pereira, Jamile; Bravo, Heydy; Sampaio-Filho, Cláudio; Giugliani, Roberto

doi:10.1590/1678-4685-gmb-2017-0227

Cited by 15 publications

(11 citation statements)

References 16 publications

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“…A pilot study for four LSDs was performed by a private Brazilian laboratory in 10,527 newborns. The conditions tested were as follows: Fabry disease, Gaucher disease, MPS I, and Pompe disease by digital microfluidics (DMF) [ 33 ].…”

Section: Methods and Resultsmentioning

confidence: 99%

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

Kubaski

Sousa

Amorim

et al. 2020

IJNS

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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.

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Section: Methods and Resultsmentioning

confidence: 99%

“…Four samples had activities below the cutoff (one for Gaucher, two for MPS I, and one for Pompe) [ 33 ]. The two screened positives for MPS I had normal urinary GAGs by dimethylmethylene blue (DMB) and a normal GAG pattern after eletroctrophoresis [ 34 ].…”

Section: Methods and Resultsmentioning

confidence: 99%

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

Kubaski

Sousa

Amorim

et al. 2020

IJNS

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“…Analysis is performed by measuring lysosomal enzymatic activities on DBS using either MS/MS or fluorimetric assay [ 45 ]. Recently some countries have employed digital microfluidics platforms (DMF-F) for the NBS of Pompe, Fabry, Gaucher and MPSI [ 46 , 47 ].…”

Section: Lysosomal Storage Disorders (Lsd)mentioning

confidence: 99%

Development of Strategies to Decrease False Positive Results in Newborn Screening

Malvagia

Forni

Ombrone

et al. 2020

IJNS

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The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants. New technological developments have enabled the implementation of testing panel covering over 50 disorders. Consequently, the increment of false positive rate has led to a high number of healthy infants recalled for expensive and often invasive additional testing, opening a debate about the harm-benefit ratio of the expanded newborn screening. The false-positive rate represents a challenge for healthcare providers working in NBS systems. Here, we give an overview on the most commonly used strategies for decreasing the adverse effects due to inconclusive screening results. The focus is on NBS performance improvement through the implementation of analytical methods, the application of new and more informative biomarkers, and by using post-analytical interpretive tools. These strategies, used as part of the NBS process, can to enhance the positive predictive value of the test and reduce the parental anxiety and healthcare costs related to the unnecessary tests and procedures.

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“…A pilot NBS study used a digital microfluidic platform to simultaneously measure the activities of AαGlu, acid β-glucosidase, α-galactosidase, and iduronidase to screen for PD, GD, FD, and MPSI in DBSs, respectively [54]. The cutoff value for AαGlu was defined as less than 30% of the mean enzyme activity in samples from 1000 unaffected babies.…”

Section: Brazilmentioning

confidence: 99%

Newborn Screening for Pompe Disease

Sawada

Kido

Nakamura

2020

IJNS

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Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity. Enzyme replacement therapy (ERT) should be started before symptoms are apparent in order to achieve optimal outcomes. Early initiation of ERT in infantile-onset PD improves survival, reduces the need for ventilation, results in earlier independent walking, and enhances patient quality of life. Newborn screening (NBS) is the optimal approach for early diagnosis and treatment of PD. In NBS for PD, measurement of AαGlu enzyme activity in dried blood spots (DBSs) is conducted using fluorometry, tandem mass spectrometry, or digital microfluidic fluorometry. The presence of pseudodeficiency alleles, which are frequent in Asian populations, interferes with NBS for PD, and current NBS systems cannot discriminate between pseudodeficiency and cases with PD or potential PD. The combination of GAA gene analysis with NBS is essential for definitive diagnoses of PD. In this review, we introduce our experiences and discuss NBS programs for PD implemented in various countries.

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Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

Cited by 15 publications

References 16 publications

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

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

Development of Strategies to Decrease False Positive Results in Newborn Screening

Newborn Screening for Pompe Disease

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