Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil.
Eurico Camargo NetoJaqueline SchulteJamile PereiraHeydy BravoClaudio Sampaio-FilhoRoberto GiuglianiPublished in: Genetics and molecular biology (2018)
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 screening laboratory.
Keyphrases
- replacement therapy
- end stage renal disease
- high throughput
- ejection fraction
- newly diagnosed
- chronic kidney disease
- pregnant women
- late onset
- quality improvement
- peritoneal dialysis
- circulating tumor cells
- single cell
- early onset
- risk assessment
- preterm infants
- patient reported outcomes
- low birth weight
- label free
- sensitive detection