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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.
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.
MCADD was the first condition added when the United Kingdom expanded their screening program from PKU only. [11] Population based studies in Germany, the United States and Australia put the combined incidence of fatty acid oxidation disorders at 1:9300 among Caucasians. The United States screens for all known fatty acid oxidation 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.
Neonatal screening for phenylketonuria became nationwide in 1969–70. Since then, Guthrie card samples have been collected routinely from infants in over 20 countries to screen for phenylketonuria and more recently for congenital hypothyroidism, sickle cell disorders and HIV infection. The limitations of sensitivity and specificity when ...
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After the discovery of PKU as a cause of mental retardation, Horst Bickel and colleagues discovered that it could be treated successfully with a diet low in phenylalanine. [7] The main drawback in successful treatment of PKU was the delay in identifying affected individuals. The common test for PKU at the time was mixing urine with ferric chloride.
Because of the low accuracy of conventional screening tests, 5–10% of women, often those who are older, will opt for an invasive test even if they received a low-risk score from the screening. A patient who received a 1:330 risk score, while technically low-risk (since the cutoff for high-risk is commonly quoted as 1:270), might be more ...
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