Newborn Screening

Newborn screening refers to blood tests done on newborns to identify infants who may have a rare disorder ("inborn error of metabolism").

Every state has a newborn screening program and a legislative mandate enforced by the Department of Public Health.

The disorders being tested for are serious and usually cause brain damage if not detected early. There are no signs or symptoms at birth and unless the blood test is done, the disorders cannot be diagnosed.

The test is also called the "PKU", which is the abbreviation for "Phenylketonuria", the first test developed to test newborns for this disorder. Most states began testing babies in the mid 1960’s for "PKU". Now there are several tests that screen infants for other rare disorders. Each state’s Public Health Code stipulates the number of tests done and who, when, where and how it is performed.

The Newborn Screening Test is a cornerstone in the prevention of mental retardation.

Editorial provided by Alicia Perez, MD of Complete Newborn Care, PC in Danbury, Connecticut