Impact of prematurity and critical illness on newborn screening performance: A prospective study from Western India

Neonatal screening (NBS) enables early detection of treatable congenital disorders, but physiological immaturity in preterm and critically ill neonates may reduce screening accuracy. We conducted a prospective observational study of 8231 neonates screened over three years at a tertiary care centre in Western India for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), G6PD deficiency, sickle cell disease, and selected amino acidopathy. A total of 70 were confirmed with a screened disorder, yielding an incidence of 8.5 per 1000 live births; G6PD deficiency (1:175) and CH (1:588) were most common.