Newborn Screening Tests

What are newborn screening tests?

Newborn screening tests are tests given to infants just after they are born. These tests check for disorders that could cause serious damage. The tests are provided by your state's department of health. Different states have different rules about which tests are done.

Newborn screening tests are not perfect. Sometimes they show that a child has a disease that the child does not actually have. All children who test positively for a disease should be tested again. Rarely, the tests do not identify children who actually do have a disease.

What diseases are tested for?

All states in the U.S. test for these diseases:

• congenital adrenal hyperplasia. This disorder may cause death if not treated.
• cystic fibrosis. This disease affects the lungs and other organs. Early treatment helps the child with CF.
• galactosemia. This condition can cause blindness, mental retardation, and growth problems if not treated.
• homocystinuria. This disorder can cause mental retardation, blood clotting problems, and skeletal problems.
• hypothyroidism. If babies do not have enough thyroid hormone, they may not develop normally.
• maple syrup urine disease. Without treatment, severely affected babies will be mentally retarded. They may not live more than one month.
• phenylketonuria (PKU). This can cause mental retardation if not treated early.
• sickle cell anemia. Sickle cells can get stuck in blood vessels and block the flow of blood and oxygen to parts of the body. The lack of oxygen can damage the body tissues and cause severe pain and fever.

All states except Oklahoma test for biotinidase deficiency. This disorder may lead to seizures, hearing loss, mental retardation, and problems with the immune system.

If these rare diseases are diagnosed early, they can be treated. Some can be completely cured.

Many states test for amino acid, organic acid, and fatty acid oxidation defects. In some states these tests are only available through private testing labs. Early diagnosis and treatment of these disorders may help to prevent serious problems like mental retardation. Ask your healthcare provider about these screening tests.

Hearing tests are also part of newborn screening in 35 states. The newborn needs to be quiet or asleep for this test. The test measures brainwaves that result when a sound is made. Reduced hearing is a frequently occurring birth defect. If hearing loss is not treated early, speech, language and learning can be affected.

How are the tests done?

Your child's healthcare provider makes a tiny cut in the baby's heel to get a small amount of blood to test. Well infants are usually tested just before they go home from the hospital, but not later than 72 hours after birth. Sick or premature infants are tested at 1 week of age, or earlier if a disease is suspected.

If a test suggests your child has a disease, the health department will contact you and your baby's doctor. If the tests do not show any diseases, you will generally not be contacted. Your baby's doctor usually gets copies of the newborn screening test results.

If your baby needs a blood transfusion, blood tests should be done before the transfusion.

Some states provide a second set of newborn screening tests between 1 and 2 weeks of age. This is important if the newborn leaves the hospital less than 24 hours after birth.

Parents may refuse to have their newborn screened because of religious or personal beliefs. Parents who refuse to have the testing done must sign forms stating they refuse the tests.

You can get more information on newborn screening from your healthcare provider or from the state health department.

Disclaimer: This content is reviewed periodically and is subject to change as new health information becomes available. The information provided is intended to be informative and educational and is not a replacement for professional medical evaluation, advice, diagnosis or treatment by a healthcare professional.

HIA File diag3740.htm Release 13/2010