A Brief History of Newborn Screening
Feb 20, 2023 ·
7m 11s
Gerald Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, provides a brief history on newborn screening. Newborn screening began with phenylketonuria (PKU)....
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Gerald Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, provides a brief history on newborn screening.
Newborn screening began with phenylketonuria (PKU). In the 1960s, Dr. Robert Guthrie showed the value of developing a NBS program to screen for PKU since it was a genetic disease that can lead to permanent damage to the body if not treated early. Since babies with PKU appear normal at birth, NBS is important to establish a proper treatment/diet plan as soon as possible.
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Newborn screening began with phenylketonuria (PKU). In the 1960s, Dr. Robert Guthrie showed the value of developing a NBS program to screen for PKU since it was a genetic disease that can lead to permanent damage to the body if not treated early. Since babies with PKU appear normal at birth, NBS is important to establish a proper treatment/diet plan as soon as possible.
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