Newborn health screenings identify health problems early

January 24, 2023 00:00

University of Utah Health Communications

Having a newborn is an exciting time for parents. But it can also be overwhelming keeping up with numerous pediatrician appointments, growth milestones, diapers, and feedings. Your doctor will do several types of checkups and screenings to identify many possible diseases or conditions. We’ll talk about some of the important ones here.

According to Jose Morales Moreno, MD, a pediatrician and assistant professor in the Division of General Pediatrics at the University of Utah Health, all states require newborn screenings, but it varies from state to state. Some screenings are done universally, such as hearing screening and congenital heart disease screening. Others, such as those on the Neonatal Metabolic Screen, vary.

The Administration of Health Services and Resources has a list of recommended screenings that each state tests against its Neonatal Metabolic Screen. Decisions are tied to factors such as the prevalence of a disease, the resources available to treat it, and the cost of screening.

Universal newborn hearing screening

The American Academy of Pediatrics recommends hearing screenings in all newborns, preferably before they leave the hospital. About one or two out of 100 children fail initial screening. If they fail hearing screening in both ears, your child will be screened again soon after.

The good news is that most children who fail the first hearing test do well on the second. There is often a blockage of the ear due to amniotic fluid or vernix, which can interfere with the results. Even so, it is very important to do further testing for those children who fail the initial hearing screening to confirm the absence of hearing loss.


Jaundice in newborns is common and benign. A baby with jaundice will have a yellow color to the skin and eyes that tends to spread from head to toe. It occurs when the level of bilirubin in the blood is high. Because high levels of bilirubin can cause brain damage, it’s important to watch out for this condition.

Bilirubin is carried within red blood cells, and when babies are born, they have a higher number of red blood cells than adults. Soon after birth, there is an increased turnover of red blood cells and the bilirubin in them is released into the bloodstream. In adults, the liver processes bilirubin and sends it to the intestines, where it is passed through bowel movements. In infants, their livers are often not developed enough to handle this chemical process. Other processes such as poor nutrition and bilirubin reabsorption can also contribute to high bilirubin levels. Other conditions, such as blood type differences between mothers and newborns, can lead to much higher and dangerous bilirubin levels.

To test for bilirubin, health care professionals most often use a small device called a bilirubinometer or a quick blood test. Bilirubin levels are highest when a baby is three to five days old and are more common among babies who are breastfed, born prematurely, or with a family history of jaundice. However, a newborn’s liver develops quite rapidly and becomes mature enough to handle bilirubin. Light therapy using special lighting is used to reduce jaundice, but frequent feedings early on can also stimulate bowel movements and help get rid of bilirubin as well.

Congenital heart disease

Congenital heart disease or heart defects can often be detected during pregnancy using an ultrasound scan called a fetal echocardiogram. After birth, congenital heart disease or congenital heart defects are screened for by pulse oximetry. Generally, children with heart disease or a heart defect will have low blood oxygen levels. Testing with a pulse oximeter is quick and painless and can detect seven common types of heart disease or defects. Early diagnosis means prompt treatment, which can prevent disability or death early in life.

Newborn metabolic screening

The metabolic screen is among the most important screens your newborn will receive. “In essence, the many metabolic diseases that newborn screening checks for are due to deficiencies of enzymes responsible for vital chemical processes in the body,” says Morales Moreno. “If identified early, these conditions can often be treated and many of their complications prevented or improved.”

  • Hypothyroidism is one example. Left untreated, hypothyroidism can lead to significant growth and developmental delays in children.
  • Congenital adrenal hyperplasia, if not identified early, can lead to electrolyte abnormalities, low blood pressure, and even cardiac arrest.
  • PKU or phenylketonuria can permanently damage the nervous system and lead to seizures or intellectual disability if left untreated.

“Other conditions, such as sickle cell anemia and cystic fibrosis, require less urgent treatment but are no less important,” says Morales Moreno. “The key point is that if a condition is identified on the newborn screen, treatment can be started sooner and overall outcomes are better.”

Many parents worry that their children will be negatively impacted by the number of screens and tests their children receive. However, they are normally very well tolerated and the benefit of being able to identify, prevent and treat many of these conditions is invaluable.

Newborn health screenings identify health problems early

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