BMC pediatrics · 2026
Neonate screening for glucose-6-phosphate dehydrogenase deficiency in South Kivu, eastern Democratic Republic of Congo.
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Francisca Isia Nanci, Ghislain Bisimwa Balakula, Gaylord Amani Ngaboyeka, Francois Boemer, Vincent Bours, Oreste Battisti, Richard Mbusa Kambale
Аннотация
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzymatic disorder and an important risk factor for severe neonatal hyperbilirubinemia. In the Democratic Republic of the Congo (DRC), neonatal data on G6PD deficiency remain limited. This study aimed to screen for G6PD deficiency among neonates in South Kivu, eastern DRC.
METHODS: A cross-sectional hospital-based study was conducted from April to August 2022 in three maternity wards in South Kivu. Live-born neonates whose parents provided informed consent were screened within one hour of birth. G6PD activity was measured on dried blood spots using the fluorescent spot test. G6PD deficiency was defined as enzyme activity < 30% of normal activity. Prevalence estimates with 95% confidence intervals (CI) were calculated, and associations were assessed using bivariate analysis.
RESULTS: Among 1,188 neonates screened, four had doubtful results. Among the 1,184 neonates with valid results, 73 were G6PD deficient, corresponding to an overall prevalence of 6.2% (95% CI: 4.9-7.7). Prevalence ranged from 2.9% to 7.7% across study sites, with no significant difference between maternity wards (p = 0.11). G6PD deficiency was more frequent among males than females (10.1% vs. 1.5%), and male sex was significantly associated with deficiency (odds ratio 7.49; 95% CI: 3.56-15.77).
CONCLUSION: Neonatal G6PD deficiency is relatively common in South Kivu and exceeds thresholds commonly proposed for targeted neonatal screening. These findings support consideration of neonatal G6PD screening strategies in the DRC.
METHODS: A cross-sectional hospital-based study was conducted from April to August 2022 in three maternity wards in South Kivu. Live-born neonates whose parents provided informed consent were screened within one hour of birth. G6PD activity was measured on dried blood spots using the fluorescent spot test. G6PD deficiency was defined as enzyme activity < 30% of normal activity. Prevalence estimates with 95% confidence intervals (CI) were calculated, and associations were assessed using bivariate analysis.
RESULTS: Among 1,188 neonates screened, four had doubtful results. Among the 1,184 neonates with valid results, 73 were G6PD deficient, corresponding to an overall prevalence of 6.2% (95% CI: 4.9-7.7). Prevalence ranged from 2.9% to 7.7% across study sites, with no significant difference between maternity wards (p = 0.11). G6PD deficiency was more frequent among males than females (10.1% vs. 1.5%), and male sex was significantly associated with deficiency (odds ratio 7.49; 95% CI: 3.56-15.77).
CONCLUSION: Neonatal G6PD deficiency is relatively common in South Kivu and exceeds thresholds commonly proposed for targeted neonatal screening. These findings support consideration of neonatal G6PD screening strategies in the DRC.