Why is newborn screening important?

September 16, 2020 | by Audrey Carr
Why is newborn screening important?

September commemorates Newborn Screening Awareness Month, a time to educate and raise awareness for newborn screenings. We sat down with experts across our practices to answer questions about the various newborn screening tests.

The what and why of CCHD screening

First up, we chatted with pediatric cardiologists Hanoch Patt, M.D., MPH, Kenneth Shaffer, M.D., FAAP, FACC and Matthew Park, M.D., FAAP, FACC, about the importance of Critical Congenital Heart Disease (CCHD) screening.

As explained by Dr. Shaffer, CCHD screening, also known as pulse oximetry screening, allows doctors to identify low blood oxygen levels in babies, which can reflect an abnormality in the heart that causes abnormal blood and oxygen flow to the body. Overall, the screen is very simple and involves placing a small pulse oximetry probe on the baby’s foot and hand. Since the probe is nothing more than a small light, the screen causes no pain or discomfort to a newborn baby. 

Though only about 1% of babies initially fail the CCHD screen, it is still critically important that all newborns are tested as many babies with congenital heart defects and abnormalities are asymptomatic and issues often go undetected until treatment for full recovery is too late. CCHD screening allows pediatric cardiologists to immediately identify at-risk babies and provide the proper treatment plans. According to Dr. Patt, “Since screening was implemented, we have discovered patients in our practices who looked normal, but failed the screen and were found to have a significant heart problem that needed surgery before they left the hospital.”

Dr. Patt, Dr. Shaffer, and Dr. Park have all been heavily involved in advocating for changes in state laws that mandate the use CCHD screening. Dr. Park says the most important change came around the end of 2011 when the screen was recommended by the Academy of Pediatrics to be included in the universal screening recommendations from the United States Department of Health and Human Services Secretary. After that, it became up to each state individually to mandate the screening—and as of September 2019, all states have chosen to do so. Pediatrix Medical Group has also been very involved in advocacy work and is a leader in researching and validating the CCHD screening protocol.

The development of newborn metabolic screening

Next up, we interviewed pediatric hospitalist Valerie Bell, M.D., about the importance of newborn metabolic screening.

Newborn screening began in the 1960s when a blood test was developed by Robert Guthrie, M.D., PhD, to screen newborns for phenylketonuria (PKU), a disorder that causes the amino acid phenylalanine to dangerously build up in the body. If families wait to start treatment until a child displays symptoms of this disorder, there may already be irreversible brain damage. So, it was important for doctors to develop a way to quickly identify at-risk children. PKU screening expanded over the years into a general metabolic screen for all newborns. Though some specific testing varies from state to state, Dr. Bell says there is a core group of over 30 tests that all states perform. In deciding which disorders are screened for, each is evaluated on criteria such as how common it is, it’s treatability and how quickly it needs to be identified in a child’s life. “It turned out that there were things they weren’t even testing for that were more important than PKU in the big picture. So, that’s when they came up with these 30-some things that everyone should test for.” For example, PKU is found in 1 in 20,000 babies while cystic fibrosis is found in 1 in 1,500.                                                                                      

Today’s metabolic screening involves analysis of five spots of blood drawn from a small prick on the baby’s heel. To ensure a pain-free poke, some of the techniques Dr. Bell’s nurses use include administration of a sucrose solution (which aids the brain in releasing hormones that reduce the sensation of pain), warming the baby’s heel, tactile distractions (stroking the head or leg) and auditory distractions (shushing and cooing). Although the disorders tested on newborn screens are rare to find, any one of them could potentially cause death or permanent disability if left untreated. “That’s why we are doing the screening,” Dr. Bell says. “Early identification can lead to treatment, which can prevent long-term complications.”

The significance of hearing screening

Finally, we spoke with Jillian Gerstenberger, AuD, MBA, MEDNAX’s Chief Clinical, Strategy & Innovation Officer of the Newborn Hearing Screen Program, about the importance of newborn hearing screening.

Newborn hearing screening is a measurement of the infant’s hearing system and involves connecting three sensors to a baby (two on the forehead and one on the infant shoulder). Sounds are produced by the ear sensors and the subsequent auditory nerve and brainstem activity is measured and recorded by the sensors. Easing many parent’s worries, Jillian explains that there is absolutely no harm to an infant during the screening and the sound that goes into the ears is as soft as a whisper.

A common question parents have relates to what is expected of the baby during the screen. Jillian explains that some parents assume their baby has to have a physical response for them to pass, but that’s not the case. “It’s a passive test,” she says. “The infant is not expected to do anything during the screen. It’s actually best performed while the infant is fast asleep.” After the sound is made, the screening machine looks for the response from the baby’s auditory nerves as recorded by the sensors. If the response is within a certain range, the baby will pass.

“Hearing loss is critical to identify early in life,” Jillian explains. “There is a period of early language development that capitalizes on brain neuroplasticity, which is critical for successful or most optimal intervention.” Ears are the doorway to the brain, the place where all sound is given meaning and interpreted. Parents need to be aware of potential issues with their baby’s auditory pathway as it impacts their social, emotional and educational development.


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