Newborn Screening Programs

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 a health care provider, typically a hospital nurse. The blood sample is placed on a special newborn screening card, the blood is dried, and the card is then transported to the testing laboratory. If the test is normal, the results are sent to the infant's health care provider and the testing is complete; if the test is abnormal, newborn screening programs follow-up measures ensure that the infant with a positive result enters into treatment for the disease. These steps include notification of the infant's physician and family of the positive screening result; obtaining a specimen for a second screening test; and, if the second screen is positive, a visit to a clinical specialist for diagnostic testing (the laboratory screening test typically detects an elevation in a substance that can occasionally be temporary and not indicative of actual disease). Finally, if the diagnostic test indicates the presence of a disease, the infant undergoes the therapeutic treatment recommended by existing clinical standards for the specific disease typically by a specialist trained to care for the specific disorder.

All 50 states and the territories perform screening tests of newborn blood specimens to detect diseases for which a treatment prevents the medical complications of untreated disease. With improvements in testing [Page 732]technology, most newborn screening programs are now expanding the number of disorders for which screening is done. This entry discusses the development of newborn screening, the current expansion of the programs, and the potential for future newborn screening.