Newborn Screening Tests

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Newborn Screening Tests

Definition:

Newborn screening tests look for seriousdevelopmental and genetic disordersso that important action can be taken during the critical time before symptoms develop.

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In the U.S., the individual states each regulate newborn screening, so the diseases screened vary considerably. Most statesrequirethree to eight tests, butorganizations 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 screenfor congenital hypothyroidism.

Alternative Names:

Infant screening tests

How the test is performed:

Blood tests: Ahealth care professional will prick the baby?s heel to obtain a drop or two 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 and7 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 priced 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:

Screeningtests 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-phosphatedehydrogenasedeficiency (G6PD)
Hearing problems
Hemoglobinopathy Disorders and Traits
Homocystinuria
Human immunodeficiency disease (HIV)
Maple syrup urine disease
Medium-chain acyl-CoA dehydrogenase (MCAD)
Sickle cell disease
Toxoplasmosis

Specific Tests:

Acylcarnitine profile. This testscreens for organic acid and fatty acids disorders, including methylmalonic acidemia (MMA).
Amino acid profile. This testlooks for amino acid deficiencies such as maple syrup urine disease andphenylketonuria.
APGAR. The APGAR test is performedone to fiveminutes after birth. Observersevaluate heart rate, breathing, activity,and skin color to detect which babies may need extra medical attention in the delivery room.

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