Navigate Up

Pediatric Center - A-Z Index

#
Q
Z

Print This Page

Newborn screening tests

Newborn screening tests look for developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to be taken before symptoms develop. Most of these illnesses are very rare, but can be treated if caught early.

The types of newborn screening tests that are done vary from state to state. Most states require three to eight tests. Some 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

Screenings are done using the following methods:

  • Blood tests: A few drops of blood are taken from the baby’s heel. 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. Another method uses electrodes that are put on the baby’s head while the baby is quiet or asleep.

How to Prepare for the Test

There is no preparation needed for newborn screening tests. The tests are done when the baby is between 24 hours and 7 days old. Most of the time, screens are done 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 get the blood sample. Studies have shown that babies whose mothers hold them skin-to-skin or breastfeed them during the procedure show less distress. Wrapping the baby tightly in a blanket, or offering a pacifier dipped in sugar water, may also help ease pain and calm the baby.

The hearing test should not cause the baby to feel pain, cry, or respond.

Why the Test is Performed

Screening tests do not diagnose illnesses. They show which babies need more testing to confirm or rule out illnesses.

If follow-up testing confirms that the child has a disease, treatment can be started, before symptoms appear.

Screening tests are used to detect a number of disorders. Some of these include:

Normal Values

Normal values for each screening test may vary depending on how the test is performed.

Note: Normal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results.

What Abnormal Results Mean

An abnormal result means that the child should have additional testing to confirm or rule out the condition.

What the Risks Are

Risks for the newborn heel prick blood sample include pain and possible bruising at the site where the blood was obtained.

Special Considerations

Newborn testing is critical for the baby to receive treatment. Treatment may be lifesaving. However, not all disorders that can be detected can be treated.

Although states do not perform all screening tests, parents can have other tests done at large medical centers. Private labs also offer newborn screening. Parents can find out about extra newborn screening tests from their doctor or the hospital where the baby is born. Groups like the March of Dimes also offer screening test resources.

References

Sahai I, Levy HL. Newborn screening. In: Gleason, ed. Avery’s Diseases of the Newborn. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 27.

Lo SF. Laboratory testing in infants and children. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 707.

American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system--executive summary. Pediatrics. 2006 May;117(5 Pt 2):S296-307.

Morrow C et al. Reducing Neonatal Pain during Routine Heel Lance Procedures. MCN, The American Journal of Maternal/Child Nursing, November/December 2010; (35)6:346 – 354.

Smith L. Updated AAP Guidelines on Newborn Screening and Therapy for Congenital Hypothyroidism. Am Fam Physician. 2007; 76(3).

Levy PA. An overview of newborn screening. J Dev Behav Pediatr. 2010 Sep;31(7):622-31.

Updated: 5/10/2013

Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.


©  UPMC | Affiliated with the University of Pittsburgh Schools of the Health Sciences
Supplemental content provided by A.D.A.M. Health Solutions. All rights reserved.

For help in finding a doctor or health service that suits your needs, call the UPMC Referral Service at 412-647-UPMC (8762) or 1-800-533-UPMC (8762). Select option 1.

UPMC is an equal opportunity employer. UPMC policy prohibits discrimination or harassment on the basis of race, color, religion, ancestry, national origin, age, sex, genetics, sexual orientation, marital status, familial status, disability, veteran status, or any other legally protected group status. Further, UPMC will continue to support and promote equal employment opportunity, human dignity, and racial, ethnic, and cultural diversity. This policy applies to admissions, employment, and access to and treatment in UPMC programs and activities. This commitment is made by UPMC in accordance with federal, state, and/or local laws and regulations.

Medical information made available on UPMC.com is not intended to be used as a substitute for professional medical advice, diagnosis, or treatment. You should not rely entirely on this information for your health care needs. Ask your own doctor or health care provider any specific medical questions that you have. Further, UPMC.com is not a tool to be used in the case of an emergency. If an emergency arises, you should seek appropriate emergency medical services.

For UPMC Mercy Patients: As a Catholic hospital, UPMC Mercy abides by the Ethical and Religious Directives for Catholic Health Care Services, as determined by the United States Conference of Catholic Bishops. As such, UPMC Mercy neither endorses nor provides medical practices and/or procedures that contradict the moral teachings of the Roman Catholic Church.

© UPMC
Pittsburgh, PA, USA UPMC.com