Jan 24, 2023 12:00 AM

Author: University of Utah Health Communications


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

According to Jose Morales Moreno, MD, a pediatrician and assistant professor in the Division of General Pediatrics at University of Utah Health, all states require newborn screenings, but they vary from state to state. Some screens are performed universally, like the hearing and congenital heart disease screen. Others, like those on the newborn metabolic screen, vary.

The Health Resources and Services Administration has a list of recommended screenings that every state tests for on their metabolic newborn screen. Decisions are related to factors like how common a disease is, the resources available to treat a disease, and the expense involved in the screening.

Universal newborn hearing screening

The American Academy of Pediatrics recommends performing hearing screens in all newborns, preferably before they leave the hospital. About one to two out of 100 babies will not pass their initial screen. If they fail the hearing screening in either ear, the baby will be given a second screening soon after.

The good news is that most babies who fail the first hearing test do fine on the second. Often, there is blockage of the ear due to amniotic fluid or vernix, which can interfere with the results. Even so, it is very important to have further testing performed for those babies who fail their initial hearing screen to confirm the absence of hearing loss.

Jaundice

Jaundice in newborns is common and benign. A baby with jaundice will have a yellow color to their skin and eyes that tends to spread from the head down to the feet. It occurs when the bilirubin level in the blood is high. Because high levels of bilirubin can lead to brain damage, it is important to be on the lookout 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 increased turnover of the red blood cells, and the bilirubin within them is released into the blood stream. In adults, the liver processes bilirubin and sends it to the intestines, where it is passed through bowel movements. In newborns, their livers are often not developed well enough to handle this chemical process. Other processes such as poor feeding and reabsorption of bilirubin 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 providers 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 more common among babies that are breastfed, premature, or have a family history of jaundice. The newborn’s liver develops fairly quickly, however, and becomes mature enough to handle the bilirubin. Phototherapy using special lighting is used to reduce jaundice, but frequent feedings at first can also stimulate bowel movements and help get rid of the bilirubin too.

Congenital Heart Disease

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

Metabolic Newborn Screening

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

  • Hypothyroidism is one example. If 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 disabilities if not treated.  

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

Many parents worry that their children will be adversely affected by the number of screens and tests that 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 screening newborn pregnancy kids health hearing jaundice metabolic screen

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