Outcomes of Universal Newborn G6PD Deficiency Screening in a Large Urban Cohort

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.

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.

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.

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.