Understanding the Importance of Newborn ScreeningsPublished: Sept. 14, 2023
Welcoming a new baby into the world is a special moment. With many new memories being made, getting your newborn on a path toward good health includes completing essential screening tests within the first few days after birth. These include a blood test, hearing screening and heart screening. It’s important to understand what each screening involves and why they’re completed.
A blood test, also known as a metabolic screening, is typically completed between 24 and 48 hours after birth. A blood sample is collected from a heel poke, and five drops of blood are collected on filter paper. The paper is then submitted to a state-contracted laboratory for analysis.
Some parents have questions about what happens to leftover blood samples. In Nebraska, samples are kept for 90 days for quality assurance purposes. After that, specimens can be used for research if the parent or guardian has provided written consent.
The newborn metabolic screening tests for more than 30 metabolic conditions, all of which can be addressed with intervention to improve outcomes early in life and avoid major complications.
Most metabolic screening results come back normal. But if there is an abnormal result, parents are contacted by their pediatrician or the state for follow-up testing, which could be as simple repeating the metabolic screening or involve other blood tests to confirm different conditions.
Conditions such as hypothyroidism and cystic fibrosis, and metabolic disorders such as phenylketonuria (PKU), sickle cell disease and spinal muscular atrophy are screened for via blood test. With early treatment and intervention, pediatric health care providers can help prevent progression of these conditions or mitigate their severity. With many of these conditions, making dietary or lifestyle changes can allow the newborn to cope with the disorders and live a healthy life.
If not treated early, congenital hypothyroidism can impair neurologic function and impact developmental milestones. When this disorder is recognized early, infants can be supplemented with thyroid hormones within the first few weeks of life and go on to grow and develop normally.
Cystic fibrosis can result in conditions where the baby isn’t able to properly absorb nutrients or may have recurrent lung infections. It can also have a delay in presentation, making screening that much more important. An early diagnosis of cystic fibrosis will help doctors provide the appropriate supplements and respiratory treatments to keep the child out of the hospital.
If PKU – a condition in which the body can't break down an amino acid called phenylalanine – is caught during the screening process, your baby can be placed on a specialized diet. This will prevent phenylalanine from building up in the blood and tissues and potentially causing permanent brain damage.
If a baby needs a specialty formula because of a specific condition, state programs can help many parents with financial challenges.
A hearing test is also completed with newborn babies at the hospital. This typically involves having Baby wear tiny headphones and placing electrodes near their ears and on their forehead while a computer monitors how they respond to various sounds. This can be repeated up to twice in the hospital, but if any abnormalities are detected, your pediatrician will refer you to an audiologist. We’ll likely refer any of our patients to audiologists at either Children’s Hospital & Medical Center or Boys Town National Research Hospital.
This test, also known as the pulse oximetry test or the congenital critical heart disease screening test, evaluates for a differential in oxygenation. A larger than expected differential could predict an underlying heart defect. Discovering these defects in the early newborn period allows time for intervention, ideally before the infant becomes symptomatic.
We’re Here to Help
If you have additional questions about these important newborn screening tests, don’t hesitate to reach out to one of our pediatricians. We’re happy to answer any and all of your questions.