Newborn Screening

If you’ve just given birth to a healthy newborn, you may be surprised to hear your baby needs a health screening before leaving the hospital. But the newborn health screening is important for all babies. Why? It helps catch serious medical conditions like cystic fibrosis or sickle cell disease. And it can help relieve the anxieties that lots of new parents have.

Every hospital in the United States is required to do the newborn screening. And UVA Health is no different. But if your child does have a health issue, you and your baby are already in the perfect location. We’re Virginia’s best children’s hospital because of the level of care we can provide.

The Newborn Screening Process

The newborn screening includes 3 parts. For most babies, the test is short. Your baby will get a:

• Hearing screening
• Heart check
• Blood test for genetic conditions

Each of these tests is designed to catch problems that are treatable. And where babies benefit from early and quick treatment.

How Are Genetic Conditions Screened For?

A blood sample is taken by sticking your baby’s heel with a specially-sized needle, or lancet. Only a tiny blood sample is needed, which is put on a special card. With just that tiny drop of blood, your baby can be screened for 35 genetic conditions.

Does The Heel Stick Hurt?

Naturally, most parents don’t feel good about seeing their child cry. While it’s not comfortable, it’s quick and quickly forgotten. And it can help catch very serious conditions.

How Do I Get My Child’s Results?

The hearing screening and heart check are both done in the hospital. And your provider will be there to go over any results with you.

But the blood test must be sent to a lab. Your child’s doctor will get the results in several days. For most families, that means after they’ve left the hospital.

If everything is normal, your baby’s screening results will be sent to your pediatrician. You’ll also be able to find them in MyChart.

If anything is urgently abnormal, you may be contacted directly from the health department. They’ll walk you through your next steps. Most of the time, that will mean coming to see our genetics department for additional testing.

If additional testing verifies that your child has a medical condition, we’ll help you find the follow-up care you need.

What Conditions Can a Newborn Screening Find?

In Virginia, the newborn screening looks for 35 conditions. Most are metabolic disorders, known as inborn errors of metabolism. Metabolic disorders affect how your child turns food into energy. If they can’t do that, they can get sick very quickly. But with quick treatment, most of these children can go on to live normal lives.

Full List of Newborn Screening Conditions

Were These Conditions Covered in Prenatal Testing?

Prenatal testing offers a lot of valuable information. But most of the conditions screened for are chromosomal disorders (called trisomies). If you’re a carrier for a genetic condition, you could also find out through carrier screening.

But no prenatal test can test for all the conditions in the newborn screening.

What About Other Conditions?

There are more than 6,000 known genetic disorders. But the Virginia newborn screening looks only at the 35 conditions that:

• Have a treatment option
• Have a reliable screening test
• Need early treatment

If you have other concerns, like a family history of heart conditions or breast cancer, genetic testing is available. A genetic counselor can talk to you about your family history and risk. That way you can narrow those 6,000 genetic disorders down to something more reasonable.

My Child’s Results Were Positive, But My Pediatrician Isn’t Concerned?

Most of the children who get an abnormal newborn screening won’t have a condition. Some of them will be carriers of the condition.

Often newborns will get a positive screen. But then follow-up tests will show a negative result. This is because the newborn screening sets the result values very low. That way, we catch everyone who might need additional testing and help.

Also, rather than just being positive or negative, results have degrees of abnormality. This lets your pediatrician know how concerned to be. They can also often tell certain conditions based on your newborn’s symptoms.

Follow-Up Care

If your child’s follow-up testing also comes up positive, you’ll be referred to a treatment center. The most common findings are sickle cell disease and cystic fibrosis. UVA Health Children's has leading experts on these and other conditions.

All the conditions on the newborn screening have one important thing in common. Experts know how to treat these conditions. And they’ll work with you to make sure your child gets the best start in life.