Today in the United States all newborns undergo testing called the newborn screen. This test is usually collected before the infant is discharged from the hospital. The blood is collected on filter paper called a Guthrie card and sent to the state lab.
In some states, the test is repeated about two weeks later. The first disorder screened was phenylketonuria (PKU); some people still refer to this as the PKU test, but today numerous disorders are screened with this small blood sample. The purpose of the newborn screen is to identify inherited conditions, so that treatment may start early and prevent complications.
There are several blood disorders that can be identified on the newborn screen. We will review them here. The testing is not exactly the same in all 50 states, but in general, most of these will be detected.
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