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Newborn screening originated with an amino acid disorder, phenylketonuria (PKU), which can be easily treated by dietary modifications, but causes severe Intellectual disability if not identified and treated early. Robert Guthrie introduced the newborn screening test for PKU in the early 1960s. [12]
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.
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.
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.
In 1961, Guthrie and his lab started screening infants for PKU, a project that quickly expanded. In two years, they had tested 400,000 American newborns, and diagnosed 39 with PKU. This early diagnosis allowed for early treatment and avoidance of the most severe consequences of the disease. [ 1 ]
Two other possible culprits that are usually diagnosed in newborns, according to Dr. Castilla, include biotinidase deficiency (BTD) and phenylketonuria (PKU). The former makes it difficult for the ...
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.