What Every Utah Parent Should Know About Newborn Screening
When your baby is born, you’re not just meeting a brand-new person—you’re also stepping into a whole new world of decisions, checkups, and what might feel like a flurry of tests. One of the most important—and perhaps least understood—is newborn screening.
Utah’s newborn screening program is a vital safety net for your child’s health. It’s fast, painless (aside from a brief heel stick), and can detect more than 40 rare but serious health conditions before symptoms ever appear. Early detection can make the difference between a life filled with opportunity and one limited by illness or disability.
Understanding what newborn screening is—and what it’s not—can help you feel confident about this important first step in your child’s care.
A Legacy of Prevention: A Brief History of Newborn Screening
Newborn screening began in the 1960s with a single test for phenylketonuria (PKU), a rare inherited condition that can cause severe intellectual disability if not treated with a special diet. That one breakthrough changed everything: children who might have faced profound disability could now grow up with normal development.
Since then, newborn screening programs have grown exponentially. Each state determines its own screening panel based on medical evidence, cost-effectiveness, and public health benefit. In Utah, our screening program is managed by the Utah Department of Health and Human Services (DHHS) and is recognized as one of the most robust in the nation.
Over time, this quiet public health achievement has saved tens of thousands of lives and spared countless families the heartbreak of a preventable crisis.
What Exactly Is Screened?
Utah’s newborn screen currently includes over 40 conditions. These fall into categories like:
Metabolic disorders, such as PKU or MCADD, which affect how the body converts food into energy.
Endocrine disorders, like congenital hypothyroidism, which can affect growth and brain development.
Hematologic conditions, such as sickle cell disease or other inherited blood disorders.
Immunodeficiencies, like SCID (the “bubble boy” disease), which severely impair the immune system.
Genetic and enzyme deficiencies, including biotinidase deficiency, galactosemia, and others.
All of these conditions are:
Rare, meaning most babies are unaffected.
Silent at birth, with no immediate signs or symptoms.
Treatable, especially when caught early.
Treatment might be as simple as a daily supplement, special formula, or medication—or in some cases, more intensive management—but the key is early detection.
Why Two Tests? The Two-Step Process Explained 👣
Utah’s newborn screening is intentionally done in two steps:
First screen: Done between 24–48 hours of life. Ideally performed at the hospital before discharge.
Second screen: Performed between 7–16 days of age, often during the baby’s first visit to the pediatrician.
This two-screen process is designed to maximize accuracy. Some conditions may not show up right away because:
The baby’s body is still adjusting to life outside the womb.
Hormone or enzyme levels haven’t reached detectable ranges.
Certain metabolic markers take time to accumulate.
For example, congenital adrenal hyperplasia may not show clearly on the first screen but becomes more detectable in the second. By testing twice, we reduce the chances of both false positives and false negatives, improving early diagnosis and avoiding unnecessary worry—or missed intervention.
If you miss the second screen, we’ll likely call to remind you. It’s that important.
What Happens to My Baby’s Information?
Parents often wonder: Where does this information go? Is my child’s DNA being stored?
Here’s what actually happens:
A few drops of blood from your baby’s heel are blotted onto a special filter paper card.
The card is labeled with identifying information and sent to the Utah Public Health Laboratory.
The blood spots are tested only for specific disorders included in Utah’s screening panel.
The physical samples are stored for up to 90 days for quality control, then destroyed—unless parents opt into longer storage for future research or retesting.
Results are stored in a secure, confidential state database. Only authorized public health and medical providers have access. The database helps:
Ensure babies with abnormal results get prompt follow-up.
Track screening performance across the state.
Improve the screening system over time.
Importantly, this is not a genetic database. While a small number of conditions use DNA-based testing as a follow-up to abnormal results, the newborn screen is not designed to collect or analyze your baby’s genetic code for other purposes.
Common Myths & Misunderstandings
Let’s clear up a few common concerns we hear from families:
“It’s just another unnecessary test.”
Actually, it’s one of the most impactful tests your child will ever have. The chance of finding something is low—but if your baby is affected, this test could change everything.
“I’ll see signs if something is wrong.”
Not always. Many of the screened conditions don’t show symptoms until damage is already done—especially to the brain, heart, or immune system. By the time a child seems sick, the best window for treatment may have passed.
“This is genetic testing to collect my baby’s data.”
No. The screen uses biochemical markers, not full genetic sequencing. It’s focused solely on detecting medically actionable conditions. Nothing is added to any national DNA registry, and samples are not stored long-term unless parents specifically consent.
“It’s painful or dangerous.”
The heel stick may cause brief discomfort (and a few tears), but the sample needed is tiny. There are no lasting risks—and the benefits are enormous.
What If I Want to Decline?
Utah allows parents to refuse newborn screening for religious or personal reasons. To do so, you must sign a written waiver acknowledging the risks.
We respect that decision-making around medical care is deeply personal. However, we strongly encourage all parents to understand the consequences of refusal:
Missed diagnoses could result in developmental disability, permanent organ damage, or death.
Many of these conditions show no signs until it’s too late to prevent harm.
If an affected child is not diagnosed through screening, the path to diagnosis can be long, stressful, and emotionally and financially draining.
If you’re considering refusal, we invite you to have an open conversation with your pediatrician. Our goal is not to pressure, but to inform and support you.
Final Thoughts: A Quiet Lifesaver
In the whirlwind of early parenthood, it’s easy to overlook a test that happens quietly in the background. But newborn screening is one of the most powerful tools we have to protect your baby’s health.
It’s quick. It’s safe. And it could change the course of your child’s life.
If you have questions about your baby’s results, missed the second screen, or want to learn more, please don’t hesitate to reach out. At Healing Arts Pediatrics and Bee Home Pediatrics, we’re here to walk with you every step of the way—starting from day one.
