Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive range of monogenic disorders. Yet, the effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied.
The gene panel sequencing identified 59 patients undetected by biochemical tests, including 20 patients affected by biochemically and genetically screened disorders and 39 patients affected by solely genetically screened disorders, which translates into one out of every 500 newborns .
A total of 328 patients with G6PD deficiency were identified. All were detected by genetic NBS, but 10 male patients were not detected by biochemical NBS; instead, they were confirmed in the confirmatory tests. Overall, the fluorometric assay had a sensitivity of 96.95% and a specificity of 99.71% , whereas genetic NBS had a sensitivity of 100% and a specificity of 98.61% for G6PD deficiency.
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