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Abstract
BackgroundThe use of cord blood in the neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is being done with increasing frequency but has yet to be adequately evaluated against the use of peripheral blood sample which is usually employed for confirmation. We sought to determine the incidence and gender distribution of G6PD deficiency, and compare the results of cord against peripheral blood in identifying G6PD DEFICIENCY neonates using quantitative enzyme activity assay.MethodsWe carried out a retrospective and cross-sectional study employing review of primary hospital data of neonates born in a tertiary care center from January to December 2008.ResultsAmong the 8139 neonates with cord blood G6PD assays, an overall incidence of 2% for G6PD deficiency was computed. 79% of these were males and 21% were females with significantly more deficient males (p < .001). Gender-specific incidence was 3.06% for males and 0.85% for females. A subgroup analysis comparing cord and peripheral blood samples (n = 1253) showed a significantly higher mean G6PD value for peripheral than cord blood (15.12 ± 4.52 U/g and 14.52 ± 4.43 U/g, respectively, p = 0.0008). However, the proportion of G6PD deficient neonates did not significantly differ in the two groups (p = 0.79). Sensitivity of cord blood in screening for G6PD deficiency, using peripheral G6PD assay as a gold standard was 98.6% with a NPV of 99.5%.ConclusionThere was no difference between cord and peripheral blood samples in discriminating between G6PD deficient and non-deficient neonates. A significantly higher mean peripheral G6PD assay reinforces the use of cord blood for neonatal screening since it has substantially low false negative results.
Highlights
The use of cord blood in the neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is being done with increasing frequency but has yet to be adequately evaluated against the use of peripheral blood sample which is usually employed for confirmation
The use of cord blood in the neonatal screening for metabolic diseases including G6PD deficiency is being done with increasing frequency in some centers [6, 8,9,10,11,12]
We ran the analysis looking at gender differences in G6PD levels in both cut-off value of 5.7 and 8.05 Units/g Hemoglobin (U/g Hb) for cord and peripheral blood samples and we found that there were highly significant differences (p < 0.001) in the levels between males and females in both samples (Table 2)
Summary
The use of cord blood in the neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is being done with increasing frequency but has yet to be adequately evaluated against the use of peripheral blood sample which is usually employed for confirmation. We sought to determine the incidence and gender distribution of G6PD deficiency, and compare the results of cord against peripheral blood in identifying G6PD DEFICIENCY neonates using quantitative enzyme activity assay. The premise is that; coming from the same individual, cord blood should reflect the same glucose-6phosphate dehydrogenase (G6PD) levels as in the peripheral sample This may not be entirely accurate; considering the tremendous physiologic changes in the newborn period that could affect G6PD activity. We sought to determine the incidence and gender distribution of G6PD deficiency among neonates using cord blood, and compared cord against peripheral blood in identifying G6PD deficiency in neonates using a quantitative enzyme activity assay
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