The need for neonatal glucose-6-phosphate dehydrogenase screening: a global perspective

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.