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Point-of-Care Quantitative Measure of Glucose-6-Phosphate Dehydrogenase Enzyme Deficiency
Vinod K Bhutani1, Michael Kaplan2, Bertil Glader3
1Department of Pediatrics, Stanford University School of Medicine, Stanford, California; bhutani@stanford.edu.
Insights
A new digital microfluidics platform accurately screens for glucose-6-phosphate dehydrogenase (G6PD) deficiency in newborns. This point-of-care test could prevent severe newborn complications.
Area of Science:
- Biochemistry
- Medical Diagnostics
- Point-of-Care Testing
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects newborns, potentially causing bilirubin neurotoxicity.
- Early screening is crucial for preventing severe neonatal complications.
Purpose of the Study:
- To evaluate a quantitative G6PD assay on a digital microfluidic platform.
- To compare its performance against standard clinical methods for newborn screening.
Main Methods:
- Quantitative G6PD activity measurement using digital microfluidic fluorescence.
- Comparison with the gold standard fluorescence biochemical test.
- Analysis of 98 discarded blood samples, including 24 G6PD-deficient samples.
Main Results:
- Digital microfluidics showed comparable results to the standard method for both normal and G6PD-deficient samples.
- Bland-Altman analysis indicated a mean difference of -0.96 ± 1.8 U/g Hb.
- The assay effectively discriminated between G6PD-deficient and normal samples with no overlap.
Conclusions:
- The digital microfluidics platform demonstrates potential as an accurate point-of-care tool.
- Further validation is recommended for rapid newborn G6PD screening.
- This technology could significantly improve newborn health outcomes by enabling early detection.
Background And Objectives:
Widespread newborn screening on a point-of-care basis could prevent bilirubin neurotoxicity in newborns with glucose-6-phosphate dehydrogenase (G6PD) deficiency. We evaluated a quantitative G6PD assay on a digital microfluidic platform by comparing its performance with standard clinical methods.
Methods:
G6PD activity was measured quantitatively by using digital microfluidic fluorescence and the gold standard fluorescence biochemical test on a convenience sample of 98 discarded blood samples. Twenty-four samples were designated as G6PD deficient.
Results:
Mean ± SD G6PD activity for normal samples using the digital microfluidic method and the standard method, respectively, was 9.7 ± 2.8 and 11.1 ± 3.0 U/g hemoglobin (Hb), respectively; for G6PD-deficient samples, it was 0.8 ± 0.7 and 1.4 ± 0.9 U/g Hb. Bland-Altman analysis determined a mean difference of -0.96 ± 1.8 U/g Hb between the digital microfluidic fluorescence results and the standard biochemical test results. The lower and upper limits for the digital microfluidic platform were 4.5 to 19.5 U/g Hb for normal samples and 0.2 to 3.7 U/g Hb for G6PD-deficient samples. The lower and upper limits for the Stanford method were 5.5 to 20.7 U/g Hb for normal samples and 0.1 to 2.8 U/g Hb for G6PD-deficient samples. The measured activity discriminated between G6PD-deficient samples and normal samples with no overlap.
Conclusions:
Pending further validation, a digital microfluidics platform could be an accurate point-of-care screening tool for rapid newborn G6PD screening.
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