Objective: To describe demographics and explore outcomes of newborns impacted by glucose-6-phosphate dehydrogenase (G6PD) deficiency in our health system during the first year of universal screening following the 2022 New York State mandate.
Methods: In this retrospective review, clinical data were compared across infants with normal, intermediate, and deficient G6PD enzyme levels. Categorical variables were analyzed using χ2 tests. Continuous variables were compared using Kruskal-Wallis and Mann-Whitney U tests. To ascertain whether all G6PD-deficient infants would have been captured by a risk factor-based approach, demographic data were reviewed.
Results: The study cohort comprised 5470 infants. The prevalence of G6PD deficiency and intermediate status were 1.7% and 2.4%, respectively, with 2.9% of male infants testing deficient. G6PD-deficient infants had higher bilirubin levels and were more likely to require phototherapy during birth hospitalization (P < .001) and be readmitted for phototherapy (P = .04) compared with G6PD-sufficient infants. Thirteen percent of infants with G6PD deficiency had parents who identified as "white" and "Ashkenazi Jewish." Twenty-two percent of G6PD-deficient newborns had parents who identified as "Puerto Rican" or "Dominican." Risk factor-based screening would have missed 44% of affected newborns prior to hospital discharge.
Conclusions: G6PD-deficient newborns are more likely to require phototherapy than G6PD-sufficient infants. Exchange transfusion and bilirubin-induced neurotoxicity are rare, likely due to protocolized bilirubin management. Our findings suggest that infants will be missed by risk factor-based screening such as that recommended by New York State.
Copyright © 2026 by the American Academy of Pediatrics.