
Newborn screening (NBS) has been cited by the U.S. Center for Disease Control (CDC) as one of the most impactful public health initiatives of the 20th century, and in the 21st century has undergone significant expansion through improved techniques of high throughput biochemical analysis, enzymatic activities and specific molecular defects. Screening is particularly indicated for medical conditions in which early treatment is more effective than treatment in later stages of the condition. Population screening adds a requirement of broader societal benefit to those related to individuals. Until recently, more than 130,000 babies a year in the Commonwealth of Pennsylvania underwent 10 mandated tests for rare genetic and metabolic diseases in addition to tests for hearing loss and cardiac defects.… Read more