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  • State of the Art
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State-of-the-Art

Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States?

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a common X-linked enzymopathy can lead to severe hyperbilirubinemia, acute bilirubin encephalopathy and kernicterus in the United States. Neonatal testing for G6PD deficiency is not yet routine and the American Academy of Pediatrics recommends testing only in jaundiced newborns who are receiving phototherapy whose family history, ethnicity, or geographic origin suggest risk for the condition, or for infants whose response to phototherapy is poor. Screening tests for G6PD deficiency are available, are suitable for use in newborns and have been used in birth hospitals. However, US birth hospitals experience is limited and no national consensus has emerged regarding the need for newborn G6PD testing, its effectiveness or the best approach. Our review of current state of G6PD deficiency screening highlights research gaps and informs specific operational challenges to implement universal newborn G6PD testing concurrent to bilirubin screening in the United States.

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Acknowledgements

This manuscript derives in part from the US Stakeholders meeting convened on 28–29 July 2010 to determine the feasibility of identification of G6PD deficiency to prevent severe hyperbilirubinemia sponsored by the Health Research Services HRSA/NNSGRC. We thank the participants of this Stakeholders Meeting for their thoughtful suggestions and ideas. These individuals include: Duane Alexander (National Institute of Health, NIH), Hani Atrash and Wanda Barfield (Center for Disease Control, CDC), Stan Berberich (Iowa Program, HRSA Newborn Screening), Vinod K Bhutani (Lucile Packard Children’s Hospital at Stanford University), George Buchanan (University of Texas Southwestern Medical School), (Roger Eaton Massachusetts Program, HRSA Newborn Screening), Jim Eckman (Emory University, Atlanta, GA), Bertil Glader (Lucile Packard Children’s Hospital at Stanford University), Alice Gong (University of Texas Health Science Center at San Antonio), Greg Gosch (Luminex), Jeffrey S Gould (Lucile Packard Children’s Hospital at Stanford University), Nancy S Green (Columbia University, New York, NY), Scott Grosse (CDC), Judy Hall (Lucile Packard Children’s Hospital at Stanford University), Harry Hannon (CDC, Quality assurance), Jim Hanson (NIH), Keith Hoots (NHLBI), Carolyn Hoppe (Children’s Hospital of Oakland Research Institute, Oakland, CA), Rodney Howell (NIH), Lois Johnson (Pennsylvania Center for Kernicterus), Michael Kaplan (Shaare-Zadek Hospital, Jerusalem, Israel), Fred Lorey (CDC, Newborn Screening), Marie Mann (HRSA), Mary Nock (Macdonald Hospital, Case Western Reserve University), Kwaku Ohene-Frempong (Children’s Hospital of Philadelphia, University of Pennsylvania), Richard Olney (CDC), Vamsee Pamula (Advanced Liquid Logics, Durham, NC), Michele Parisi (NIH), Leela Phillip and Family (Patient with G6PD and Kernicterus with her family), Michele Puryear (HRSA), Tonse NK Raju (NICHD), Keld Sorenson (Luminex), Ann R. Stark (Safe and Healthy Beginnings Initiative, American Academy of Pediatrics, Baylor College of Medicine), David K Stevenson (Lucile Packard Children’s Hospital at Stanford University), Brad Therrell (NNSGRC), Tina Urv (NIH), Peter van Dyck (HRSA, MCHB) and Jon F Watchko (Magee Women’s Hospital, University of Pittsburgh). We gratefully appreciate the individual contributions of Drs Nancy S Green, Bertil Glader, Marie Mann, Bradley Therrell and Lois Johnson, and their constructive critique of an earlier version of this manuscript. We thank Rohan Vilms and Diana Wise (research assistants) at the Stanford University. We also acknowledge and thank Stella Gengania-Dina and Ronald J Wong for their administrative support at the Stanford University.

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Watchko, J., Kaplan, M., Stark, A. et al. Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States?. J Perinatol 33, 499–504 (2013). https://doi.org/10.1038/jp.2013.14

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