Newborn screening tests Health Article

Definition

Newborn screening tests look for serious developmental, genetic, and metabolic disorders so that important action can be taken during the critical time before symptoms develop. Most of these illnesses are very rare.

In the United States, individual states regulate newborn screening, so the diseases screened for vary considerably from state to state. Most states require three to eight tests, but organizations such as the March of Dimes and the American College of Medical Genetics suggest more than two dozen additional tests.

The most thorough screening panel checks for about 40 disorders. All 50 states screen for congenital hypothyroidism, galactosemia, and phenylketonuria (PKU).

Alternative Names

Infant screening tests; Neonatal screening tests

How the test is performed

Blood tests: A health care professional will prick the baby’s heel to obtain a few drops of blood. The blood is sent to a lab for analysis.

Hearing test: An audiologist will place a tiny earpiece or microphone in the infant’s ear or stick electrodes on the baby’s head.

How to prepare for the test

There is no preparation necessary for newborn screening tests. The tests are performed when the baby is between 24 hours and 7 days old, typically before the baby goes home from the hospital.

How the test will feel

The baby will most likely cry when his or her heel is pricked to obtain the small blood sample. The hearing test should not cause the baby to feel pain, cry, or respond.