512 - Glucose-6-Phosphate Dehydrogenase Screening in Infants in Two Urban Multiethnic Community Hospitals in New York City

Publication Number: 4502.512

Elif T. Aydin Goker, Flushing Hospital Medical Center, Flushing, NY, United States; Ankita Gogineni, Flushing Hospital Medical Center, Flushing, NY, United States; Murat Yigit, Flushing Hospital Medical Center, Flushing, NY, United States; Lourdes Cohen, Flushing Hospital Medical Center, Flushing, NY, United States; R. Jonathan Robitsek, Jamaica Hospital Medical Center, Jamaica, NY, United States; Lily Q.. Lew, Flushing Hospital Medical Center, Flushing, NY, United States; Shirley Pinero-Bernardo, Flushing Hospital Medical Center, Flushing, NY, United States

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzyme disorder that can present with increased risk of neonatal hyperbilirubinemia. In May 2022, NYS mandated G6PD screening for all newborns hospitalized with jaundice.

Objective: To describe the characteristics of newborns screened for G6PD deficiency before and after the state-mandate.

Design/Methods: A retrospective chart review of newborns screened for G6PD deficiency in two urban multiethnic teaching hospitals in NYS. Newborns tested between August 2011, and May 2022 were designated as pre-mandate and between August and January 2025 as post-mandate. Demographics (age, gender, ethnicity), clinical presentation and outcome were extracted from EHR. Normal G6PD level was defined as 7.0-20.5 U/g Hb. Pre- and post-mandate groups were compared. Data were analyzed using R software, p< 0.05 was considered significant.

Results: Among the 465 newborns screened for G6PD deficiency, less than a fifth (n=59, 13%) were in pre-mandate group and most (n=406, 87%) were in the post-mandate group. A total of seventeen newborns (3.6%) were diagnosed with G6PD deficiency. Of the six (35%) newborns in the pre-mandate group, the median age of G6PD test was 5.5 (5.0-7.0) days, all were male, two-thirds Asian (n=4, 67%) and a third presented with hyperbilirubinemia and anemia (n=2, 33%). Of the eleven newborns in the post-mandate group, the median age of G6PD test was 5.0 (4.0-6.0) days, ten male (91%), over a half (55%) Black or African American, a third (36%) Asian and one Hispanic (9%), and all presented with hyperbilirubinemia. The total number of G6PD tests was higher post-mandate (84%), and the proportion diagnosed with G6PD deficiency was lower compared to the pre-mandate group (2.9% vs 15%), p< 0.023. Newborns were tested at a younger age in the post-mandate group, p< 0.001. Testing for anemia was greater in the pre-mandate group ([9.1% vs 0%], p< 0.001), and neonatal hyperbilirubinemia was the predominant indication ([21% vs 58%], p< 0.001) in the post-mandate group.

Conclusion(s): NYS-mandated testing for G6PD deficiency increased the total number of tests with lower proportion diagnosed. Those diagnosed pre-mandate were more likely an Asian male with hyperbilirubinemia and anemia. Those diagnosed post-mandate were more likely Black or African American, at a younger age, not all male, and all presented with hyperbilirubinemia. The differences were possibly due to the higher selectivity in testing in the pre-mandate group.