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Newborn Screening

Newborn screening is a process where infants are screened shortly after birth for treatable disorders that are difficult to detect clinically. State or national programs aim to screen all infants born in their jurisdiction. Robert Guthrie developed a method to screen for phenylketonuria through blood samples on filter paper, testing for various disorders depending on funding and regional prevalence. Phenylketonuria is a genetic disorder where a gene mutation prevents breaking down the amino acid phenylalanine, causing developmental issues if left untreated.

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42 views1 page

Newborn Screening

Newborn screening is a process where infants are screened shortly after birth for treatable disorders that are difficult to detect clinically. State or national programs aim to screen all infants born in their jurisdiction. Robert Guthrie developed a method to screen for phenylketonuria through blood samples on filter paper, testing for various disorders depending on funding and regional prevalence. Phenylketonuria is a genetic disorder where a gene mutation prevents breaking down the amino acid phenylalanine, causing developmental issues if left untreated.

Uploaded by

ajdr_11
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© Attribution Non-Commercial (BY-NC)
We take content rights seriously. If you suspect this is your content, claim it here.
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NEWBORN SCREENING  Newborn screening is the process by which infants are screened shortly after birth for a list

of disorders that are treatable, but difficult or impossible to detect clinically.  Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction.  Newborn screening originated when Robert Guthrie developed a method to screen for phenylketonuria, a disorder which could be managed by dietary adjustment if diagnosed early.  Whole blood samples are collected from the infant's heel on specially designed filter paper, and then tested for a panel of disorders. The disorders tested can vary from region to region, based on funding and the prevalence of a condition in the population. ***Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine (Phe) to the amino acid tyrosine. When PAH enzymatic activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine. If, however, the condition is left untreated, it can cause problems with brain development, leading to progressive mental retardation, brain damage, and seizures.

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