Newborn screening tests are tests given to infants within a few days after birth. These tests check for disorders that could cause serious harm and can only be found by blood tests. 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 accurate but they are not perfect. Sometimes they show that a child has a disease that the child does not actually have. This is particularly a concern when the true disease is very, very rare. Therefore 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.
All states in the U.S. test for diseases in these categories:
If these rare diseases are diagnosed early, some of them can be effectively treated. Some can be completely cured. Unfortunately some children will not improve very much from early diagnosis.
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 brain waves 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.
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.
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.