What to expect with your newborn’s health screening

September 4th, 2025 / 0 Comments

In the first days after birth, your baby will have a series of routine newborn health screenings. These quick and often painless checks — including a heel prick test and simple non‑invasive exams — look for rare but serious conditions that often show no symptoms at birth. Early newborn screening allows for immediate treatment that can prevent lifelong complications and even save lives.

Why newborn health screening matters

Some conditions tested at birth don’t cause visible signs in the first few days. Without early detection, they can lead to developmental delays, long‑term issues or even life‑threatening complications. With newborn screening, your medical team can detect these conditions early and begin treatment right away, giving your baby the best possible start.

Newborn screening tests at a glance

Test type	Examples of conditions	Why it’s important	How it’s done
Metabolic conditions	PKU (phenylketonuria), maple syrup urine disease, MCAD deficiency	Body may not process nutrients properly	Heel prick blood test
Hormone conditions	Congenital hypothyroidism, congenital adrenal hyperplasia	Affects growth, development or stress response	Heel prick blood test
Hemoglobin conditions	Sickle cell disease, beta thalassemia	Affects red blood cells’ ability to carry oxygen	Heel prick blood test
Other rare disorders	Cystic fibrosis, spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID)	Can impact lungs, muscles or immune system	Heel prick blood test
Hearing check	Hearing loss	Early identification supports speech and language development	Soft earphones play sounds while baby rests
Heart screening	Critical congenital heart disease (CCHD)	Catch heart conditions needing urgent care	Pulse oximeter sensor on hand or foot
Jaundice check	High bilirubin levels	Prevents complications such as brain damage	Handheld sensor on forehead

Which newborn screenings will your baby get?

Most states follow national recommendations for more than 30 core tests included in newborn screening. If your state’s panel doesn’t include everything you’d like, you can request additional testing through your provider.

Metabolic conditions

These occur when the body can’t properly turn food into energy due to missing or malfunctioning enzymes. Examples include:

Phenylketonuria (PKU): Affects breakdown of the amino acid phenylalanine, which can harm brain development
Maple syrup urine disease (MSUD): Causes a harmful buildup of amino acids
MCAD deficiency: Makes it difficult for your baby to use fat for energy, especially when not eating regularly

For more information on metabolic conditions, check out our BearGenes video series on YouTube.

Hormone conditions

These involve imbalances in hormone production, which can affect development and metabolism.

Congenital hypothyroidism: Causes low thyroid hormone, impacting growth and brain development
Congenital adrenal hyperplasia: Affects hormone production, stress response and growth

Hemoglobin conditions

Hemoglobin disorders, like sickle cell disease and beta thalassemia, involve problems with how red blood cells carry oxygen.

Other health concerns

Some screenings look for rare but serious conditions like:

Cystic fibrosis: Affects lungs and digestion
Spinal muscular atrophy (SMA): Weakens muscles over time
Severe combined immunodeficiency (SCID): Impairs the immune system’s ability to fight infections

Non-blood newborn screenings

Not every newborn screening requires a blood sample:

Hearing test: Done in a quiet room while your baby rests. Small earphones or sensors check how your baby’s ears respond to sound
Heart screening (CCHD): A soft sensor on your baby’s skin measures oxygen levels in the blood
Jaundice check: A small handheld device scans your baby’s forehead to measure bilirubin. If levels are high, a confirmatory blood test may be done

When and how newborn screenings are done

All tests are done within the first 1-2 days after birth while you are still in the hospital. For conditions screened through blood tests, the nursery team will do a heel prick to collect a small blood sample, which is sent to a state laboratory for analysis. If your baby was not born in a hospital, discuss newborn screening options with your birthing team (doula or midwife) and your child’s doctor to ensure the tests are performed and the results are received.

If your baby is tested within the first 24 hours of life, a second sample may be taken later. Some states test all infants twice. Your baby’s heel may be red in the area where the blood sample was taken or develop a bruise. This will go away within a few days and is not cause for concern.

What do I do if my newborn tests positive for any of the tests?

If your newborn’s blood tests are positive for any condition, you will receive results by the time your baby is 5-7 days old. While a positive result may be concerning, the initial positive result will need to be followed up with additional tests to confirm that your newborn actually has a health condition. This additional testing may happen with the support of your primary care provider and a specialist. Specialists are often health providers who are experts in specific conditions like metabolic, hemoglobin or hormonal conditions. Be sure to discuss any positive test with your child’s doctor so you can receive a full diagnosis and treatment plan. Among the treatments your child may need are special formula, diet restrictions, supplements, medicines and close monitoring.

If the hearing test, critical congenital heart disease or jaundice screens are abnormal or concerning, the nursery team will share these results with you immediately – prior to discharge from the hospital. The results should also be included in the discharge summary so that you and your pediatrician can discuss them during your first visit after discharge from the nursery.

Where to learn more about newborn screening

You can research which newborn screening tests are available in your state at Baby’s First Test. Visit the Children’s National Health Library to research health conditions that are included in newborn screening.

If you’re interested in following up on any genetic conditions discovered in your baby’s newborn screening tests, you may want to consult a genetic counselor.