Newborn screening is well recognized as the largest and most successful health promotion and disease prevention system in the country. Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal conditions that are not otherwise apparent at birth. Newborn screening tests take place before the newborn leaves the hospital and identifies serious or life-threatening conditions before symptoms begin. Although such conditions are usually rare, they can affect a newborn’s normal physical and mental development. Early detection is crucial in newborn screening since intervention can prevent death or a lifetime of severe disabilities.
Public health laboratories in each state and territory conduct newborn screening tests for more than 95% the four million babies born in the United States each year. Each year approximately 3,000 babies with severe disorders are identified in the US using state newborn screening programs.
Newborn screening encompasses more than testing, however. Once a preliminary diagnosis is made, public health laboratory scientists collaborate with other public health and medical practitioners to make certain that the affected child receives prompt and appropriate treatment, follow-up care, case management and evaluation.
Recent advances in technology and genetics highlight a growing need to incorporate advanced testing technologies in public health laboratories and to explore the public health laboratory’s role in genetic testing.