title: 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.
authors: Division of Newborn Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Magee-Womens Hospital and Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
authors: J F
authors: JF
authors: Watchko
authors: M
authors: M
authors: Kaplan
authors: A R
authors: AR
authors: Stark
authors: D K
authors: DK
authors: Stevenson
authors: V K
authors: VK
authors: Bhutani
mesh_terms: D001741:Black or African American / Q000706:statistics & numerical data; D004899:Erythroblastosis, Fetal / Q000175:diagnosis; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis* / Q000453:epidemiology / Q000208:ethnology; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000175:diagnosis / Q000453:epidemiology / Q000517:prevention & control; D007231:Infant, Newborn; D007647:Kernicterus / Q000517:prevention & control; D015997:Neonatal Screening / Q000379:methods / Q000706:statistics & numerical data*; D010353:Patient Education as Topic; D015203:Reproducibility of Results; D018570:Risk Assessment; D014481:United States / Q000453:epidemiology