History of Neonatal Screening

NBS is a public health action that aims to recognize and treat serious congenital conditions at birth. These are rare diseases that, if not detected or managed as soon as possible, seriously threaten their health and interfere with the child’s normal development.

Historically, screening was made possible from the 1960s for phenylketonuria (PKU) in newborns thanks to the innovative spirit of American bacteriologist Robert Guthrie. A few drops of blood deposited on blotting paper and a simple and inexpensive analytical technique would be key to success. In fact, Guthrie had the idea of collecting blood from newborns on blotting paper, which allowed for both minimal blood sampling and easy transportation to the laboratory and he developed a simple biological method for a phenylalanine assay applicable to this type of sampling.

The applications of early screening have subsequently expanded by offering screening for other conditions such as congenital hypothyroidism, congenital adrenal hyperplasia or cystic fibrosis. Today, several dozens of genetic abnormalities can thus be identified and millions of newborns are screened each year around the world.

The experience today demonstrates that neonatal screening is one of the most ambitious and accomplished public health initiatives conducted over the past sixty years.