Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Original Article
  • Published:

Implementation and analysis of a pilot in-hospital newborn screening program for glucose-6-phosphate dehydrogenase deficiency in the United States

Abstract

Objective:

The purpose of this study was to analyze a targeted screening program for glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDdef) and clinical outcomes of G6PD-deficient vs G6PD normal newborns.

Study Design:

Retrospective chart review for 1578 male newborns was performed. The study group was those screened for G6PDdef. Comparisons between G6PD-deficient and normal infants were made with χ2-test and unpaired t-test.

Result:

A total of 1095 male newborns were screened, 11.1% had G6PDdef. 97.8% of screen results were reported by 48 h. Total bilirubin (TB) levels in deficient infants were significantly higher than in normal infants throughout birth hospitalization and they were more likely to receive phototherapy. Nineteen screened newborns were rehospitalized for hyperbilirubinemia, 47% had G6PDdef.

Conclusion:

In-hospital newborn screening for G6PDdef with rapid turnaround time is possible. G6PDdef is a risk factor for hyperbilirubinemia in American newborns. US centers with large at-risk populations can identify newborns at risk for severe hyperbilirubinemia with similar screening.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2

Similar content being viewed by others

References

  1. Cappellini MD, Fiorelli G . Glucose-6-phosphate dehydrogenase deficiency. Lancet 2008; 371: 64–74.

    Article  CAS  Google Scholar 

  2. WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Org 1989; 67: 601–611.

    Google Scholar 

  3. Beutler E . Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood 2008; 111 (1): 16–24.

    Article  CAS  Google Scholar 

  4. Sgro M, Campbell D, Shah V . Incidence and causes of severe neonatal hyperbilirubinemia in Canada. CMAJ 2006; 175 (6): 587–590.

    Article  Google Scholar 

  5. Manning D, Todd P, Maxwell M, Platt MJ . Prospective surveillance study of severe hyperbilirubinaemia in the newborn in the UK and Ireland. Arch Dis Child Fetal Neonatal Ed 2007; 92: 342–346.

    Article  Google Scholar 

  6. Bhutani VK, Johnson LH, Maisels MJ, Newman TB, Phibbs C, Stark AR et al. Kernicterus: epidemiological strategies for its prevention through systems-based approaches. J Perinatol 2004; 24: 650–662.

    Article  Google Scholar 

  7. Kaplan M, Hammerman C . Glucose-6-phosphate dehydrogenase-deficient neonates: a potential cause for concern in North America. Pediatrics 2000; 106 (6): 1478–1480.

    Article  CAS  Google Scholar 

  8. Kaplan M, Hammerman C . The need for neonatal glucose-6-phosphate dehydrogenase screening: a global perspective. J Perinatol 2009; 29: S46–S52.

    Article  CAS  Google Scholar 

  9. Bhutani VK, Johnson LH, Sivieri EM . Predictive ability of a predischarge hour-specific serum bilirubin for subsequent significant hyperbilirubinemia in healthy term and near-term newborns. Pediatrics 1999; 103: 6–14.

    Article  CAS  Google Scholar 

  10. American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Clinical practice guideline: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics 2004; 114 (1): 297–316.

    Article  Google Scholar 

  11. Beutler E . G6PD deficiency. Blood 1994; 84 (11): 3613–3636.

    CAS  Google Scholar 

  12. Kaplan M, Herschel M, Hammerman C, Hoyer JD, Heller GZ, Stevenson DK . Neonatal hyperbilirubinemia in African American males: the importance of glucose-6-phophate dehydrogenase deficiency. J Pediatr 2006; 149: 83–88.

    Article  CAS  Google Scholar 

  13. Maisels MJ, Newman TB . Jaundice in full-term and near-term babies who leave the hospital within 36 h. Clin Perinatol 1998; 25: 295–302.

    Article  CAS  Google Scholar 

  14. Kaplan M, Leiter C, Hammerman C, Rudensky B . Comparison of commercial screening tests for glucose-6-phosphate dehydrogenase deficiency in the newborn period. Clin Chem 1997; 43: 1236–1237.

    CAS  Google Scholar 

  15. Ainoon O, Alawiyah A, Yu YH, Cheong SK, Hamidah NH, Boo NY et al. Semiquantitative screening test for G6PD deficiency detects severe deficiency but misses a substantial proportion of partial-deficiency females. Southeast Asian J Trop Med Public Health 2003; 34 (2): 405–414.

    CAS  PubMed  Google Scholar 

  16. Kaplan M, Beutler E, Vreman HJ, Hammerman C, Levy-Lahad E, Renbaum P et al. Neonatal hyperbilirubinemia in glucose-6-phosphate deydrogenase-deficient heterozygotes. Pediatrics 1999; 104: 68–74.

    Article  CAS  Google Scholar 

  17. Wong FL, Boo NY, Ainoon O, Wang MK . Comparison of detection of glucose-6-phosphate dehydrogenase deficiency using fluorescent spot test, enzyme assay and molecular method for prediction of severe neonatal hyperbilirubinemia. Singapore Med J 2009; 50 (1): 62–67.

    PubMed  Google Scholar 

  18. Raju TN . Epidemiology of late preterm (near-term) births. Clin Perinatol 2006; 33 (4): 751–763.

    Article  Google Scholar 

  19. Davidoff MJ, Dias T, Damus K, Russell R, Bettegowda VR, Dolan S et al. Changes in the gestational age distribution among U.S. singleton births: impact on rates of late preterm birth, 1992 to 2002. Semin Perinatol 2006; 30 (1): 8–15.

    Article  Google Scholar 

  20. Kaplan M, Muraca M, Vreman HJ, Hammerman C, Vilei MT, Rubaltelli FF et al. Neonatal bilirubin production-conjugation imbalance: effect of glucose-6-phosphate dehydrogenase deficiency and borderline prematurity. Arch Dis Child Fetal Neonatal Ed 2005; 90: F123–F127.

    Article  CAS  Google Scholar 

  21. JCAHO. Revised guidance to help prevent kernicterus. Sentinal Event Alert 2004; (31): 1–2.

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to M L Nock.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Nock, M., Johnson, E., Krugman, R. et al. Implementation and analysis of a pilot in-hospital newborn screening program for glucose-6-phosphate dehydrogenase deficiency in the United States. J Perinatol 31, 112–117 (2011). https://doi.org/10.1038/jp.2010.69

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2010.69

Keywords

This article is cited by

Search

Quick links