Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples
Abstract Background 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...
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doaj-1d27213356fe49d3a5b6eda0b8548d112020-11-25T00:27:51ZengBMCBMC Pediatrics1471-24312017-07-011711610.1186/s12887-017-0912-yScreening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samplesSaif AlSaif0Ma. Bella Ponferrada1Khalid AlKhairy2Khalil AlTawil3Adel Sallam4Ibrahim Ahmed5Mohammed Khawaji6Khalid AlHathlol7Beverly Baylon8Ahmed AlSuhaibani9Mohammed AlBalwi10Division of Neonatology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health AffairsDivision of Neonatology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health AffairsDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health AffairsDivision of Neonatology, Department of Pediatrics, Prince Mohammad bin Abdulaziz Hospital, Ministry of National Guard Health AffairsDivision of Neonatology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health AffairsDivision of Neonatology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health AffairsDivision of Neonatology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health AffairsDivision of Neonatology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health AffairsDivision of Neonatology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health AffairsDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health AffairsDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health AffairsAbstract Background 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. Methods We 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. Results Among 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%. Conclusion There 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.http://link.springer.com/article/10.1186/s12887-017-0912-yGlucose-6-phosphate dehydrogenase deficiencyScreeningNeonatesCord blood |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Saif AlSaif Ma. Bella Ponferrada Khalid AlKhairy Khalil AlTawil Adel Sallam Ibrahim Ahmed Mohammed Khawaji Khalid AlHathlol Beverly Baylon Ahmed AlSuhaibani Mohammed AlBalwi |
spellingShingle |
Saif AlSaif Ma. Bella Ponferrada Khalid AlKhairy Khalil AlTawil Adel Sallam Ibrahim Ahmed Mohammed Khawaji Khalid AlHathlol Beverly Baylon Ahmed AlSuhaibani Mohammed AlBalwi Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples BMC Pediatrics Glucose-6-phosphate dehydrogenase deficiency Screening Neonates Cord blood |
author_facet |
Saif AlSaif Ma. Bella Ponferrada Khalid AlKhairy Khalil AlTawil Adel Sallam Ibrahim Ahmed Mohammed Khawaji Khalid AlHathlol Beverly Baylon Ahmed AlSuhaibani Mohammed AlBalwi |
author_sort |
Saif AlSaif |
title |
Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples |
title_short |
Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples |
title_full |
Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples |
title_fullStr |
Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples |
title_full_unstemmed |
Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples |
title_sort |
screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples |
publisher |
BMC |
series |
BMC Pediatrics |
issn |
1471-2431 |
publishDate |
2017-07-01 |
description |
Abstract Background 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. Methods We 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. Results Among 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%. Conclusion There 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. |
topic |
Glucose-6-phosphate dehydrogenase deficiency Screening Neonates Cord blood |
url |
http://link.springer.com/article/10.1186/s12887-017-0912-y |
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