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.