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Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
The blood of a two-week-old infant is collected for a Phenylketonuria, or PKU, screening. The neonatal heel prick is a blood collection procedure done on newborns. It consists of making a pinprick puncture in one heel of the newborn to collect their blood. This technique is used frequently as the main way to collect blood from neonates.
Robert Guthrie, MD, Ph.D. (June 28, 1916 – June 24, 1995) was an American microbiologist, best known for developing the bacterial inhibition assay used to screen infants for phenylketonuria at birth, before the development of irreversible neurological damage. [1]
PKU was the first disorder to be routinely diagnosed through widespread newborn screening. Robert Guthrie introduced the newborn screening test for PKU in the early 1960s. [67] With the knowledge that PKU could be detected before symptoms were evident, and treatment initiated, screening was quickly adopted around the world.
In 1978 Levy moved to the Boston Children’s Hospital where he expanded the PKU Clinic into the Metabolic Program. [8] Levy's work in both newborn screening and genetic disorders has received global recognition. Early in his career Levy began a close collaboration with Robert Guthrie, the founder of newborn screening.
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
Hyperphenylalaninemia most is commonly diagnosed by newborn screening and must be distinguished from classic PKU by confirmatory testing at an experienced center. Some cases in adult women have been detected using maternal screening programs or following birth of children with birth defects.
Tools. Tools. move to sidebar hide. Actions Read; ... Newborn Screening Saves Lives Reauthorization Act of 2013; P. Phenylketonuria