Universal newborn screening for G6PD deficiency and severe hyperbilirubinemia at a tertiary center in Jerusalem.

OBJECTIVE: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a major risk factor for neonatal hyperbilirubinemia, yet screening protocols are limited to at-risk populations and may miss affected infants. STUDY DESIGN: We reviewed 5413 neonates born at a tertiary center in Jerusalem. Of 4867 with valid results, 81 (1.66%, 2.9% of males) had severe (<2 IU/g Hb) and 108 (2.2%, 4.4% of females) had intermediate enzyme activity (2-10 IU/g Hb). A nested case-control analysis compared newborns with diminished G6PD activity with randomly selected controls. RESULT: Severe deficiency increased phototherapy risk (OR 4.78; 95% CI 2.60-8.78; p < 0.001). 43.2% of deficient newborns would not have been tested by targeted screening based on family history or ethnicity. Universal screening identified 6.4% of phototherapy-treated neonates who would not have been flagged for treatment under targeted screening. CONCLUSION: Universal G6PD screening objectively identifies newborns at increased risk for hyperbilirubinemia requiring phototherapy and may support earlier risk-adapted management.