Newborn screening tests

Table of Contents

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, but are treatable if caught early.

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).

In addition to the newborn screening blood test, a hearing screen is recommended for all newborns.


Alternative Names

Infant screening tests; Neonatal screening tests; The PKU test


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: A health care provider will place a tiny earpiece or microphone in the infant’s ear or stick electrodes on the baby’s head while the baby is quiet or asleep.


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Review Date: 06/18/2011
Reviewed By: Kimberly G Lee, MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of South Carolina, Charleston, SC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)