Newborn screening for disease is a highly effective public health effort to prevent the consequences of certain diseases in affected newborns. Through testing of blood samples from and administration of hearing tests to newborn infants, targeted diseases are detected very early, often before manifestations of diseases are evident, enabling rapid initiation of treatment of these diseases. This entry summarizes the mechanism of screening, the diseases screened, and the treatment of some of these diseases and highlights the potential of newborn screening for identification and control of other health problems.

Newborn screening comprises a system through which a laboratory, public or private, processes a newborn blood specimen to detect the possible presence of a disease in the infant. The newborn screen blood sample is usually obtained by ...