Newborn Screening

Newborn screening is a public health program that tests infants shortly after birth for conditions that are treatable but not yet visible in the newborn period, with the goal of identifying at-risk infants early enough to confirm a diagnosis and begin treatment before the disease can cause lasting harm. The program began with the discovery that phenylketonuria, an inherited disorder in which the body cannot process the amino acid phenylalanine, could be treated by dietary adjustment if caught early, and Robert Guthrie developed a simple bacterial-inhibition blood test in the 1960s, collected on filter paper, that could detect the condition shortly after birth and made screening on a large scale practical. Newborn screening programs, typically run by state or national governing bodies, now test for a defined panel of treatable disorders that varies by jurisdiction, and most tests measure metabolites or enzyme activity in a blood sample, though some programs also include bedside tests for hearing loss and congenital heart defects.