Digital microfluidics: a future technology in the newborn screening laboratory?

Area of Science:

• Biochemistry
• Genetics
• Medical Diagnostics

Background:

• Newborn screening (NBS) has expanded to include inherited metabolic disorders via tandem mass spectrometry.
• Interest is growing in screening for lysosomal storage diseases (LSDs) and other treatable conditions.
• Current NBS expansion is limited by high labor and equipment costs.

Purpose of the Study:

• To introduce a cost-effective microchip platform for newborn screening.
• To reduce turnaround time for test results.
• To enable multiplexing of diverse diagnostic assays.

Main Methods:

• Developed a disposable microchip platform for automated microdroplet manipulation (dispensing, transport, mixing, washing, incubation).
• Translated immunoassays and enzyme activity assays to the microchip format.
• Demonstrated DNA amplification, amplicon detection, and sequencing on the same platform.
• Achieved multiplexing of four enzyme activities with minimal cross-contamination.

Main Results:

• The microchip platform significantly reduces specimen and reagent consumption (approx. 1% of bench assays).
• The platform supports various assay types, including immunologic, enzymatic, and molecular diagnostics.
• Multiplexing of multiple enzyme activities was successfully demonstrated.
• Reduced time to result reporting is a key benefit.

Conclusions:

• The described microchip platform presents a cost-effective solution for expanding newborn screening.
• This technology enhances efficiency and reduces resource requirements for diagnosing inherited disorders.
• The platform's versatility supports a wide range of assays relevant to newborn screening, including LSDs.