2018
DOI: 10.1590/1678-4685-gmb-2017-0227
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Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

Abstract: We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screeni… Show more

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Cited by 16 publications
(13 citation statements)
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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%
See 1 more Smart Citation
“…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%
“…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%
“…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%
“…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%