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Newborn screening tests

• Overview
• Risks
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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.

In the United States, the individual states each regulate newborn screening, so the diseases screened for vary considerably. Most states require three to eight tests, but organizations such as the March of Dimes 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

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.

Why the test is performed:

Screening tests do not diagnose illnesses. They identify which babies need additional testing to confirm or rule out illnesses. Good screening tests have a low false-negative rate (if the test is normal, the child should be healthy), but may have a high false-positive rate (as many affected children as possible should test positive, even if this means many healthy children also test positive).

If a disorder is diagnosed on follow-up testing, appropriate treatment can be started right away, before symptoms appear.

Screening tests are used to detect a number of disorders, including:

• Biotinidase deficiency
• Congenital adrenal hyperplasia
• Congenital hypothyroidism
• Cystic Fibrosis
• Galactosemia
• Glucose-6-phosphate dehydrogenase deficiency (G6PD)
• Hearing problems
• Hemoglobinopathy Disorders and Traits
• Homocystinuria
• Human immunodeficiency disease (HIV)
• Maple syrup urine disease
• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
• Sickle cell disease
• Toxoplasmosis

Specific Tests:

• Acylcarnitine profile. This test screens for organic acid and fatty acids disorders, including methylmalonic acidemia (MMA).
• Amino acid profile. This test looks for amino acid deficiencies such as maple syrup urine disease and phenylketonuria .
• APGAR. The APGAR test is performed one to five minutes after birth. Observers evaluate heart rate, breathing, activity, and skin color to detect which babies may need extra medical attention in the delivery room.

References:

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.

Graves JC, Miller KE, Sellers AD. Maternal serum triple analyte screening in pregnancy. Am Fam Physician . 2002 Mar 1;65(5):915-20.

Grosse SD, Boyle CA, Cordero JF. Newborn screening for cystic fibrosis: recommendations from the Centers for Disease Control and Prevention. Am Fam Physician . 2005 Apr 15;71(8):1482, 1487.

Bryant KG, Horns KM, Longo N, Schiefelbein J. A primer on newborn screening. Adv Neonatal Care . 2004 Oct;4(5):306-17.

Carreiro-Lewandowski E. Newborn screening: an overview. Clin Lab Sci . 2002 Fall;15(4):229-38.

Centers for Disease Control and Prevention. Newborn Screening for Cystic Fibrosis: Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs. J Pediatr . 2005 Sep;147(3 Suppl):S1.

Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004 Oct 15;53(RR-13):1-36.

• Review Date: 5/1/2007
• Reviewed By: Rachel A. Lewis, MD, FAAP, Columbia University Pediatric Faculty Practice, New York, NY. Review provided by VeriMed Healthcare Network. Previously reviewed by Alan Greene, M.D., F.A.A.P., Department of Pediatrics, Stanford School of Medicine; Lucile Packard Children's Hospital; Chief Medical Officer, A.D.A.M., Inc.

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