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Newborn Screening Tests

By Deborah M. Consolini, MD

Many serious disorders that are not apparent at birth can nonetheless be detected by various screening tests. Early diagnosis and prompt treatment can reduce or prevent many disorders that may interfere with an infant's healthy development. Some tests are done routinely and some are required by the state. When screening tests are positive, other tests are often done.

Typical screening tests include

  • Blood tests

  • Tests of oxygen level

  • Hearing tests

Doctors evaluate all newborns for jaundice (a yellow color of the skin caused by elevated levels of bilirubin in the blood—see Jaundice in Newborns) by looking at the skin and whites of the eyes, using a skin sensor, doing a blood test, or a combination. All states require a number of blood tests in newborns to detect certain inherited metabolic disorders (see Overview of Hereditary Metabolic Disorders) that are treatable. Common tests include those for phenylketonuria, maple syrup urine disease, galactosemia, congenital adrenal hyperplasia, sickle cell disease, and hypothyroidism. Some states also require testing for cystic fibrosis and/or immune deficiency. However, different states require different tests. For a list of routine newborn screening tests by state, see the National Newborn Screening and Global Resource Center .

Doctors place an oxygen sensor (pulse oximetry) on the newborn's right hand and right foot to measure oxygen levels. Low oxygen levels or significant differences between the hand and foot suggest the possibility of congenital heart disease.

Hearing tests are done to detect hearing loss, which may accompany certain birth defects or infections. Doctors use a handheld device that produces soft clicks and measures the echoes off the newborn's eardrum.

* This is the Consumer Version. *