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The need for neonatal glucose-6-phosphate dehydrogenase screening: a global perspective
1Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel. kaplan@cc.huji.ac.il
Insights
Global screening for Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in newborns is crucial. Early detection before hospital discharge improves awareness and timely treatment for neonatal hyperbilirubinemia and kernicterus.
Area of Science:
- Biochemistry
- Genetics
- Neonatology
Background:
- Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a significant cause of severe neonatal hyperbilirubinemia.
- This deficiency is disproportionately linked to kernicterus, even in regions with low overall incidence.
Observation:
- Neonatal screening for G-6-PD deficiency before hospital discharge can enhance awareness among parents and caregivers.
- This increased awareness facilitates earlier medical evaluation and treatment for affected infants.
Findings:
- Participants at the Newborn Jaundice and Kernicterus Meeting agreed on the necessity of expanding global neonatal G-6-PD screening.
- Screening results must be available before infant discharge from the birth hospitalization.
Implications:
- Implementing universal neonatal G-6-PD screening can reduce the incidence of severe hyperbilirubinemia and kernicterus.
- The discussion highlighted the need to consider the optimal timing and methods (biochemical vs. molecular DNA) for screening.
Abstract:
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is an important cause of severe neonatal hyperbilirubinemia, and is overrepresented, even in countries with a low overall incidence of the enzyme deficiency, in the etiology of kernicterus. Neonatal screening for G-6-PD deficiency before discharge from the birth hospitalization should be instrumental in increasing parental and medical caretaker awareness of the high-risk nature of an infant, thereby effecting earlier referral of hyperbilirubinemic neonates for medical evaluation and treatment. The need for global screening, timing of screening, and the pros and cons of biochemical versus molecular DNA screening were discussed at the Newborn Jaundice and Kernicterus Meeting in Siena. The participants agreed that there was a need to expand neonatal G-6-PD screening globally and that screening results should be obtained before the infants' discharge from birth hospitalization.
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