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.