What Parents Need to Know About Newborn Screening

Newborn screening is a set of tests your baby has 24 to 48 hours after birth. These tests help healthcare providers identify certain health conditions. Newborn screening helps ensure that your baby gets needed treatment as soon as possible.

“The earlier we treat an infant, the better the long-term outcomes for that little one,” says Joshua Baker, DO, FAAP, FACMG, attending physician in genetics, genomics and metabolism and director of newborn screening at Lurie Children’s. “Newborn screening tests help us catch and treat health conditions early, when we can prevent potential complications of disease.”

Here, Dr. Baker tells you everything you need to know about newborn screening tests and how screening helps babies stay healthy.

What is newborn screening?

Newborn screening is a public health program. Each state in the U.S. screens newborn babies for certain health conditions. Every state manages its own newborn screening program and may choose which health conditions it screens for.

How does newborn screening help my baby?

Newborn screening test results tell healthcare providers whether your baby may have a health condition. Providers don’t diagnose health conditions with newborn screening tests. Instead, they use screening results to determine if your baby needs more testing to confirm a health condition. 

Newborn screening helps keep babies healthy by making sure babies who need treatment get it right away. “Before newborn screening, we had to wait for infants to show symptoms,” Dr. Baker says. “This led to delayed treatment and complications in some babies.”

What newborn screening tests will my baby have? 

Newborn infants nationwide have the same types of screenings. But while the types are the same, each state decides which specific health conditions they include in their newborn screenings. Your baby will have three different types of tests.     

Newborn Blood Spot Screening 

Newborn blood spot screening looks for certain treatable health conditions. These tests typically include newborn metabolic screening, which checks for disorders affecting how the body turns food into energy. The tests also usually screen for conditions affecting your baby’s blood and hormones. The newborn screening program in each state decides which conditions the blood spot test will look for. For example, in Illinois, the newborn screening program tests for more than 40 specific health conditions. 

A healthcare provider uses a small needle to prick your baby’s heel, known as a heel stick. Your baby may feel a small pinch during this quick test. The provider then collects a few drops of blood.

The provider places the blood drops on a card made with special paper that absorbs the blood. They then send this card to a laboratory. Newborn blood spot screening tests may include:

• Amino acid metabolism disorders: These health conditions cause problems with how the body processes amino acids. Amino acids are substances that help the body make protein. 
• Fatty acid oxidation disorders: These health conditions affect how the body changes fat into fatty acids for energy.
• Organic acid metabolism disorders: This group of health conditions affects how the body processes food and liquids. 

“These are all rare conditions,” Dr. Baker says. But when providers identify these conditions right away, your baby can get care quickly to help keep them healthy. 

Specialists also check newborn blood spots for:

• Endocrine (hormone) disorders: A group of health conditions that may affect a baby’s hormones, such as congenital adrenal hyperplasia
• Hemoglobin disorders: Health conditions that cause problems with a baby’s red blood cells, such as sickle cell anemia      

Newborn Hearing Screening

Newborn hearing screening checks to see if your baby may have hearing loss. Healthcare providers place earbuds in your baby’s ears. They play soft sounds and use a computer to measure how your baby responds to sound. Providers may measure:

• Automated auditory brainstem response: Providers place small sensors on your baby’s head and neck. These sensors connect to a computer. The computer tells providers if your baby’s ears and brain respond to sounds.
• Otoacoustic emissions: Providers use a computer to determine if your baby’s ears respond to sounds played through the earbuds.

Healthcare providers will talk to you about any needed follow-up testing for your baby. 

Newborn Pulse Oximetry Screening

Blood oxygen level tells providers if critical congenital heart disease (CCHD) may be present. CCHD includes differences in the heart’s structure that affect its ability to pump blood. 

Providers place a sensor on your baby’s hand, foot or wrist. They connect the sensor to a monitor that checks how much oxygen is in your baby’s blood. Providers tell you if pulse oximetry screening results show that your baby may need more tests.

When will I find out my baby’s newborn screening test results? 

You’ll learn the results of your baby’s hearing screening and pulse oximetry screening as soon as each test is done. Newborn blood spot screening test results are usually available in about a week. Ask your baby’s pediatrician about their newborn screening test results at your baby’s first or second well-child visit.

What happens if my baby’s newborn screening results aren’t normal? 

Sometimes, newborn screening test results are outside typical ranges. Providers may call this a positive result. A positive result may feel scary, but these results don’t mean your baby has a health condition for sure.

“These truly are screening tests,” Dr. Baker says. “They’re not definitive. Newborn screening tests quickly screen all babies to find those who could be most at risk and bring them to our attention for further testing.”  

Your pediatrician may refer you to a specialist for more tests when newborn screening test results are positive. “We can't get all the information we need from the newborn blood spot,” Dr. Baker says. “Babies with positive blood spot results need confirmatory genetic testing. That helps us know the severity of the condition.” 

Your baby also needs more testing when: 

• Hearing screening shows they may have hearing loss
• Pulse oximetry screening shows they may have critical congenital heart disease

What if my baby has a health condition? 

Treatment is available for every condition included in newborn screening tests, Dr. Baker says. Babies should get care right away when diagnostic tests confirm they have a health condition.

“We monitor your baby over time and help keep them healthy as they get older,” he says. “They may need medication or a special diet.”

How can I get more information about what newborn screening test results mean?

Talk to your pediatrician about your baby’s newborn screening test results. Your baby should have more tests right away when providers need more information about their health. 

Specialists can help with next steps. “We look at all of the puzzle pieces to help determine if your baby has a disease and how severe it is,” Dr. Baker says. “We help with next steps for your baby and your family.” 

Dr. Baker says newborn screening tests sometimes show false positive results. “For every 10 babies where we get a false positive, there's still that one baby where we’re catching the disease and treating it early,” he says. 

Learn more about pediatric genetics, genomics and metabolism at Lurie Children’s. 

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