Universal Screening for G6PD Deficiency Detects More Cases Than Selective Testing

Background: Testing for glucose-6-phosphate dehydrogenase (G6PD) deficiency is traditionally restricted to jaundiced neonates, as well as to those whose risk factors provide sufficient grounds to suspect the deficiency. We assumed that in a multi-ethnic, multicultural society, routine neonatal screening for G6PD deficiency would detect more affected neonates.

Methods: An observational, population-based, cohort study was designed to compare the incidence of G6PD deficiency between two groups of neonates using a validated qualitative enzyme test. Incidence of G6PD deficiency was calculated retrospectively for one group of neonates born between January 2005 and July 2012 (i.e., epoch 1), when only "at-risk" newborns were tested for the deficiency (i.e., group 1). Incidence was also calculated for a second, prospective group of neonates, who were all to be born between August 2012 and April 2014 (i.e., epoch 2), and were all screened for the deficiency irrespective of risk factors.

Results: A total of 39,268 live-born infants were included in our study. In epoch 1, 6.8% of all newborns were tested for the deficiency, compared to about 87% in epoch 2. The incidence of G6PD deficiency was 0.4% (119/29,332) and 1.6% (156/9,936) in epoch 1 and epoch 2, respectively (p<0.05). Among females, there was a 6.6-fold increase in incidence of G6PD deficiency between epoch 1 (0.08% [12/14,410]) and epoch 2 (0.53% [26/4,881]), while among males there was a 3.4-fold increase in incidence between epoch 1 and epoch 2 (0.72% [107/14,922] and 2.47% [125/5055], respectively).

Conclusions: As universal screening for G6PD deficiency detects more affected newborns than the selective, risk-factor-based testing does, we suggest that validation of our study and cost-effectiveness analyses may further the aim of introducing universal screening for G6PD deficiency for neonates born in multi-ethnic, multicultural society setting.