Performance Comparison Between Conventional Fluorescent Spot Test and Quantitative Assay in Detecting G6PD Deficiency...

Area of Science:

• Biochemistry
• Neonatal Screening
• Genetics

Background:

• Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent inherited enzymopathy globally.
• The fluorescent spot test (FST) is a traditional method for neonatal G6PD screening, but it has limitations.
• Quantitative assays, such as the CareStart Biosensor 1, are increasingly recommended for G6PD detection.

Purpose of the Study:

• To compare the diagnostic performance of the fluorescent spot test (FST) and the CareStart Biosensor 1 for detecting G6PD deficiency in neonates.
• To evaluate the ability of both methods to identify varying levels of G6PD activity.

Main Methods:

• A cross-sectional study involving 455 neonates.
• Analysis of cord blood using CareStart Biosensor 1 and dried cord blood spots using FST.
• Statistical analysis including sensitivity, specificity, and Cohen's kappa to assess agreement and performance.

Main Results:

• FST sensitivity decreased significantly at higher G6PD cut-off values (29.0% at 60% cut-off), while specificity remained high (100%).
• The prevalence of G6PD deficiency was 5.1% by FST versus 17.8% by Biosensor 1 (p < 0.001).
• FST misclassified individuals with intermediate G6PD levels as normal.

Conclusions:

• The FST misses a substantial number of neonates with intermediate G6PD deficiency.
• The CareStart Biosensor 1 identifies a higher prevalence of G6PD deficiency compared to FST.
• Accurate detection of G6PD deficiency is crucial to prevent oxidative stress-related complications.