Certain healthcare providers can help you make decisions about genetic testing based on your health and what you want to learn.
What Is Newborn Screening?
Newborn screening is one of your baby’s first tests. It checks for many serious, sometimes life-threatening, conditions soon after your baby is born. Many of the conditions newborn screening checks for have a genetic basis. Nearly every baby born in the U.S. receives this test.
Newborn screening looks for signs that a baby's body is not working the way it should work. Your healthcare provider can help if your baby’s screening result is abnormal, or out-of-range. An out-of-range result means more testing is needed. Follow-up tests will show if your baby has one of the conditions checked for by newborn screening in your state. In some cases, babies have a condition that needs to be taken care of quickly. For these babies early treatment can:
- Improve a child’s quality of life
- Avoid serious intellectual or physical delays
- Save a baby’s life
How Do I Get Newborn Screening?
Every state has a newborn screening program run by the state health department. Each state decides which conditions are screened for as part of their newborn screening program. To find out what your state screens for, visit BabysFirstTest.org.
Newborn Screening Process
Newborn screening looks for signs of many conditions, so there are different types of screens a baby can go through as part of newborn screening. The most common is the “heel prick.” This screen requires a few drops of blood. A healthcare provider will prick your baby’s heel to get the drops of blood. The blood is put on special filter paper. The contact information of the baby's parents and healthcare provider also is put on the paper. After the paper dries it is sent to a central testing laboratory, usually the state public health laboratory. The laboratory performs many screenings on the blood sample from the filter paper. If anything is out of range, the scientist at the lab will contact the healthcare provider listed on the card.
A newborn’s hearing is also checked as part of newborn screening. The hearing screen is a quick procedure to figure out if your baby has a risk of hearing loss. This also is done in the hospital before the babies leave.
Screening for Critical Congenital Heart Disease
Some states are starting to add another procedure as part of newborn screening. Pulse Oximetry, also called pulse ox, is a non-invasive way to measure how much oxygen is in the blood. This means that no blood or other samples are taken. Pulse ox screening is used to find babies who are at risk for Critical Congenital Heart Disease.
Getting Your Results
It is important that your healthcare provider can reach you to tell you the results of all the newborn screening procedures. When you leave the hospital or birthing center, give the best address and phone number to get in contact with you or a family member. Follow-up testing can tell if the baby is healthy or sick. If your baby needs more tests, you may need to take him or her to a hospital or specialist right away. You should follow your healthcare provider’s directions for more testing as soon as possible.
What If My Child Is Diagnosed With a Condition?
Babies diagnosed with a condition may need follow-up treatment. Treatment may happen at a special center for their particular disorder or with a range of specialists. Parents will receive treatment recommendations that, if followed, will help their child lead the healthiest life possible.
With early detection through newborn screening, most babies that are diagnosed with a condition can live happy, active lives. Several resources talk about support programs and services for families. For more information:
- Visit the State Screening Information page and the Living with Conditions section on Baby's First Test.
- Visit a directory of support groups for genetic conditions.
Families who have a child diagnosed with a rare genetic condition may have questions about future children. Parents can discuss their risk of having another affected child with their primary care provider or a genetic counselor.