ArticleBMJ paediatrics open2025
Neonatal glucose-6-phosphate dehydrogenase activity by gestational age and sex: evidence-based cut-offs for newborn screening in Saudi Arabia.
Article in BMJ paediatrics open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence.European journal of human genetics : EJHG · 2026Article
- Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency and Risk of Hyperbilirubinemia Among Newborns: A Tertiary Center Experience from Western Saudi Arabia.Pediatric reports · 2026Article
- Screening of glucose-6-phosphate dehydrogenase deficiency in a cohort of 215,137 newborns: an epidemiological and pathogenic variant spectrum study in Yueyang, China.Frontiers in genetics · 2026Article
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7 authors.
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Abstract
objectiveTo characterise quantitative glucose-6-phosphate dehydrogenase (G6PD) activity in term and preterm neonates, compare activity by gestational age (GA) and sex and derive neonatal screening cut-offs using percentile and WHO methods.
designRetrospective cross-sectional analysis of cord blood screening programme.
settingKing Abdulaziz Medical City, Riyadh, Saudi Arabia, January 2016 to May 2022.
participantsAll live births with cord blood G6PD and GA. Of 59 465 births, 58 139 (97.8%) were screened. For reference range derivation only, results below the adult threshold (<5.7 U/g haemoglobin (Hb); n=1163) were excluded, yielding 56 976.
main outcome measuresDistribution by GA and sex; prevalence under three definitions: adult cut-off (≤5.7 U/g Hb), neonatal percentile cut-off (2.5th percentile) and WHO bands (<30% deficient, 30-70% intermediate, >70% normal). Secondary measures were stratum medians and the male share among detected cases.
resultsMean activity was 15.33±2.67 U/g Hb, higher in preterm than term. Sex differences were absent in preterm strata but present at term (males lower than females; p=0.002). The neonatal 2.5th percentile cut-off was 9.9 U/g Hb. Using the adult cut-off, 2.00% (1163/58 139) were deficient, 80.9% male. Using the neonatal cut-off, prevalence rose to 4.97% (2888/58 139), adding 1725 infants (+583 males, +1142 females) and reducing the male share to 52.8%. WHO bands identified a small <30% group and a female intermediate (30-70%) group across strata. Medians were 15.0 (≥37 weeks), 16.0 (33-36), 17.0 (29-32) and 17.6 (≤28) U/g Hb.
conclusionsG6PD activity in neonates shows clear GA and sex effects. Adult cut-offs underestimate deficiency, especially in females. Neonatal thresholds (2.5th percentile plus GA-specific WHO bands) improve detection. Adoption within newborn screening, with reporting of a female intermediate band, should strengthen follow-up; external validation and linkage to bilirubin outcomes are needed.
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