Historical Perspective

Newborn screening programs began in the US with the work of Dr. Robert Guthrie, who in the 1960's developed a screening test for phenylketonuria.
Since then, scientists have developed more tests to screen newborns for a variety of severe conditions.
Each year, over 5,000 babies are born with one of the conditions included in newborn screening panels in the USA alone. Most of these infants appear perfectly healthy at birth and come from families with no history of the disorder. Unfortunately, once symptoms appear, they are often irreversible, leading to severe health and developmental problems or even death.
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Case Studies