753 - Universal G6PD Deficiency Newborn Screening: Trends In A Large New York Healthcare System

Publication Number: 753.6846

Shweta R. Sharma, SIUH Northwell Health, Brooklyn, NY, United States; Eleny Romanos-Sirakis, SIUH Northwell Health, SI, NY, United States

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked recessive inheritance state, is the most common enzyme defect among humans, affecting 5.3% of males globally with greatest incidence among those of Asian, African and Mediterranean descent. G6PD deficiency may exacerbate physiological neonatal jaundice with risk of irreversible neurological damage (kernicterus), identified as a “never event” in medical care. The World Health Organization recommends routine screening in populations with 3-5% incidence of G6PD deficiency among males; for present-day US demographics, incidence is estimated to be 4.5-7%. In May 2022, New York State (NYS) mandated screening at-risk newborns for G6PD deficiency. In the absence of a central database from which to access results and determine true incidence, this study was devised.

Objective: Primary: Study trends in test completion and local incidence of abnormal G6PD deficiency screening results in a diverse state​.
Secondary: Survey hematologists regarding subsequent care of screen positive newborns.

Design/Methods: Following IRB approval, data spanning 18 months of neonatal G6PD testing was retrieved from Northwell’s secure database. We analyzed test outcomes for all livebirths at 7 Northwell Health institutions (across various NY locations) between July 1, 2022 and December 31, 2023, with an aim to identify incidence of G6PD deficiency among those tested.

Results: Quantitative test data was sought for all 40,638 livebirths (51.14% males) across Northwell, with a test completion rate of 79.93%. Among the effective sample size of 32,481 (51.02% males), 1.08% subjects tested screen positive (range 0.43-1.5% across hospitals); an additional 1.03% subjects (range 0.54-2.12%) had intermediate/borderline test results. Among males in particular (n=16,573), 1.94% tested screen positive (range 0.93-2.71%); an additional 1.09% of subjects (range 0.65-2.03%) had intermediate/borderline test results; the remaining 96.97% of males with completed tests had adequate G6PD enzyme activity.

Conclusion(s): The screen positive rate observed in this data was lower than the projected incidence. Study results are limited by a high rate of unknown results and variable demographic distribution in catchment areas. Further study is needed to determine if these results are indicative of the current nationwide incidence of G6PD deficiency, and a survey of NYS hematologists is underway to understand the impact of this screening measure on clinical practice.

Test Completion Rates
Hospital-wise test completion rates (range: 68.29 - 92.93%), with bars indicating number of livebirths at each hospital during the study period versus number of completed tests with analyzable results.

Abnormal G6PD Screening Results, All vs Male, Cumulative
Cumulative depiction of abnormal results [viz. (i) screen positive ( <4.9 U/g Hb, reflective of G6PD deficiency), (ii) intermediate/borderline results (4.9-9.9 U/g Hb), and (iii) combined screen positive and intermediate/borderline results], each reflected as percentages of all subjects (n=32,481) versus only male subjects (n=16,573).

Abnormal G6PD Screening Results, All vs Male, By Hospital
Hospital-wise depiction of abnormal results, viz. (i) screen positive ( <4.9 U/g Hb, reflective of G6PD deficiency) and (ii) intermediate/borderline results (4.9-9.9 U/g Hb), reflected as percentages of all subjects versus only male subjects at each hospital.