Newborn Screening: What Parents Should Know

When you have a baby, it is a time filled with excitement and maybe a little anxiety. There are a lot of decisions to make, from what color to paint the nursery, to selecting a pediatrician, to deciding whether to breastfeed or not. One important thing you may not have thought about is newborn screening.

Identifying Disorders Early 

Newborn screening involves diagnostic tests performed within a day or two of a baby’s birth in order to identify various disorders. All states throughout the US are required to have some level of newborn screening tests. 

The public health department in each state decides what conditions to screen for.

Each state has a panel, which is a list of certain conditions they test a baby for. States may decide what medical conditions to screen for based on the frequency of the disorder in the state, cost of screening and state laws. The United States Health Resources and Service Administration issued a set of guidelines to encourage consistency among states. The administration recommends testing newborns for 31 different conditions. Although the recommendations have been made, states are not required by law to follow them.  

Although newborn health screening tests are recommended and highly encouraged by physicians, parents can opt out of screening if they wish. Parents should keep in mind that screening is easy and according to the CDC, there are no risks or side effects of testing. But if parents object for religious or other reasons, they can sign a form stating they are refusing the screening.

How Is Screening Performed?

Newborn screening is simple and quick. A few drops of blood are taken from the baby’s heel. The blood is analyzed in the lab and screened for various types of medical conditions. Only a small amount of blood is needed to test for multiple disorders. Newborns are also screened for hearing problems. When a baby is first born, it can be difficult to determine if he or she is having any difficulties hearing. It is not until they are a little older that parents may recognize hearing problems. That’s where newborn screening can be helpful.

There are two different newborn hearing tests, and both are painless and noninvasive. One test is called the otoacoustic emissions test. The procedure involves placing a small earpiece and microphone into the baby’s ear. After placing the device, sounds are played. If a baby’s hearing is normal, after the sound is played, an echo will be measured by the microphone.

The second type of hearing test called the auditory brainstem response involves placing electrodes on the baby’s head. The electrodes measure the response of the hearing nerve to sound. The type of test done varies by hospital. Some hospitals choose one test over another while others perform both tests.

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Newborn screening also includes a pulse oximetry test. A small probe is placed on the baby’s wrist, and a second one is placed on the baby’s foot. The test measures the oxygen level in the blood. In some cases, low oxygen levels may indicate a heart problem.

Newborn Screening Can Be Lifesaving

The types of disorders screened for vary in severity. In some cases, symptoms of the condition may not be present early on. By the time symptoms do appear, the condition may cause serious health problems.

If a condition is identified early, treatment can be implemented, which may prevent more serious health consequences.

Types of Disorders Screened For

Different medical conditions are included in newborn screening tests including genetic, metabolic and cardiac conditions.

For example, many states screen for cystic fibrosis and sickle cell anemia. Parents can determine, which conditions are screened for in their state, by asking their obstetrician. A list of screening tests conducted by state can also be found on the babyfirsttest.org website.

Some of the metabolic disorders usually screened for include little known conditions, such as isovaleric acidemia and ketothiolase deficiency. Many parents and even pediatricians may not be familiar with these types of metabolic conditions. Without early screening and diagnosis, it could take months or years for a proper diagnosis. In some instances, a delay in diagnosis can lead to serious consequences. For example, a metabolic condition called PKU allows phenylalanine, which is an amino acid, to build up in the body after ingesting protein rich foods or liquids. The buildup of phenylalanine can lead to brain damage. If parents are aware of the condition, they can have their baby follow a special diet, which prevents problems from developing. 

Getting Newborn Screening Tests Results 

After you consent to newborn screening tests, your baby will be tested before you are discharged from the hospital. If your state does not screen for certain conditions that you want to have your newborn tested for, you may be able to pay for the added test.

You might want to consider specific tests if you have a family history of a certain condition.

Other than hearing and pulse oximetry tests, you will not have the results when you are discharged from the hospital. Different medical facilities and laboratories have different policies for notifying parents of the test results. For example, test results may be sent to the hospital where your child had the screening and not directly to your doctor.

Your child’s doctor will inform you of the results once they are available. If your baby’s test results are negative, it means the tests did not indicate any signs of the conditions screened for.

See Also: What You Need To Know About Newborn Care In The First Month

If abnormal results come back for a specific condition, try not to be alarmed. According to the Centers for Disease Control and Prevention, not all abnormal results mean your child has a disorder. If your baby tests positive for a specific condition, it means their results were out of the normal range. It does not confirm a diagnosis. Additional testing will be recommended to confirm or rule out the condition.