Doctor answers common questions about newborn screening

September is Newborn Screening Awareness Month, highlighting the importance of early detection and intervention for newborns. Here, Dr. Joshua Baker, attending physician in genetics, genomics and metabolism and director of newborn screening at Lurie Children’s, shares everything expecting parents 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 — a set of tests babies have 24 to 48 hours after birth which help health care providers identify certain health conditions right away and that treatment can get started as soon as possible, if needed. Each state in the U.S. screens newborn babies for certain health conditions and manages its own program, with the power to choose which health conditions it screens for.

“The earlier we treat an infant, the better the long-term outcomes for that little one,” Baker said. “Newborn screening tests help us catch and treat health conditions early, when we can prevent potential complications of disease.”

Why is newborn screening important?

Test results from newborn screening are an important first step in understanding a potential health condition in a baby. While doctors don’t use newborn screening tests to diagnose, they are vital in determining if a baby needs further testing to confirm a suspected health condition.

“Before newborn screening, we had to wait for infants to show symptoms,” Baker said. “This led to delayed treatment and complications in some babies.”

What tests are included in the newborn screening?

• Newborn Blood Spot Screening: Looks for certain treatable health conditions, such as metabolic disorders and conditions affecting a baby’s blood and hormones. A health care provider uses a heel stick — a small needle to prick the baby’s heel to collect a few drops of blood. Babies may feel a small pinch during this quick test. The blood is places on a card made with special paper that absorbs it and it set out to a laboratory.

Each state decides which conditions the blood spot test will look for. The Illinois program tests for more than 40 specific health conditions. Newborn blood spot screening tests may include tests for amino acid metabolism disorders, fatty acid oxidation disorders or organic acid metabolism disorders.

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

Specialists also check newborn blood spots for endocrine (hormone) disorders and hemoglobin disorders.

• Newborn Hearing Screening: Checks to see if your baby may have hearing loss. Earbuds are placed in a baby’s ears and soft sounds are played to measure how your baby responds. Providers may measure automated auditory brainstem response, where small sensors are placed on a baby’s head and neck and are connected to a computer. The computer tells providers if your baby’s ears and brain respond to sounds. They might also measure otoacoustic emissions, where a computer is used to determine if a baby’s ears respond to sounds played through the earbuds. If follow-up testing is necessary, health care providers will have that conversation with parents.

• 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.

A sensor is placed on a baby’s hand, foot or wrist and is connected to a monitor that checks how much oxygen is in the baby’s blood. Providers will let parents know if pulse oximetry screening results show that their baby needs further testing.

How long does it take to get newborn screening test results back?

Hearing screening and pulse oximetry screening results are available as soon as each test is done. Newborn blood spot screening test results are usually available in about a week. A good rule of thumb is to follow up with your baby’s pediatrician about their newborn screening test results at their first or second well-child visit.

What happens when newborn screening results aren’t normal?

If newborn screening test results are outside typical ranges, they may be considered a “positive result.” This phrasing may feel scary to new parents, but these results don’t automatically mean their baby has a health condition for certain. Pediatricians may refer parents to a specialist for more tests in this scenario.

“These truly are screening tests,” Baker said. “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.”

“We can’t get all the information we need from the newborn blood spot,” Baker said. “Babies with positive blood spot results need confirmatory genetic testing. That helps us know the severity of the condition.”

A baby also will need further testing when hearing screening shows they may have hearing loss or pulse oximetry screening shows they may have critical congenital heart disease.

What happens if a health condition is confirmed?

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

Physicians will monitor babies with confirmed health conditions over time and help keep them healthy as they get older, whether that’s via medication, a special diet, or otherwise.

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

Baker notes that newborn screening tests will also 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 said.

• Children’s health is a continuing series. This column was provided by Ann & Robert H. Lurie Children’s Hospital of Chicago. Dr. Joshua Baker, DO, FAAP, FACMG, is an attending physician in genetics, genomics and metabolism and director of newborn screening at Lurie Children’s.