Understanding newborn screenings

Newborn screenings after birth help diagnose rare but serious health conditions. By catching these problems early, newborn screenings can protect children’s health and even save their lives.

Every U.S. state has a newborn screening program. The tests are free and usually happen anywhere from a day to a week after giving birth.

If you give birth in a hospital, your provider will arrange the newborn screenings to happen before you take your baby home. Some states have a second screening about a week or two after the first one.

If you give birth at a home or birthing center, your midwife or nurse may be able to perform some of the screenings right away. If they can’t perform any of the screenings, they will refer you to a center that can.

The screenings include blood tests, as well as checks of your baby’s hearing and heart.

What Is Newborn Screening (NBS)?

Newborn screening, sometimes shortened to NBS, screens your newborn for more than 25 genetic, hormonal, or metabolic problems. You can check the Health Resources & Services Administration (HRSA) website to see the diseases included in your state’s program.

Here are just some of the diseases that the newborn screening checks for:

Congenital hypothyroidism

A problem where the thyroid gland doesn’t make enough thyroid hormone, needed for brain and body development. If health providers don’t identify and treat this problem, children can have mental delays and other problems.

Cystic fibrosis

A genetic disorder where the body makes too much mucus in the lungs and other organs. This can harm breathing and digestion, but early diagnosis can help children with CF live normal lives.

Phenylketonuria (PKU)

A rare disorder where the body can’t properly break down proteins in food. Children with PKU require a special diet and often supplements and medication to avoid learning delays and growth problems. As this was one of the first tests included in newborn screening, some still call the blood test a PKU screening.

Severe Combined Immunodeficiency (SCID)

A rare genetic disorder that causes problems in the cells that fight infections. This disease can be fatal without treatment. Children usually need a stem cell transplant in the first few months of life.

Sickle cell disease

A health problem where the red blood cells are abnormally shaped, which can cause pain when they move through small blood vessels. Children with this problem need extra monitoring to prevent pain and anemia (low iron).

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What Happens During the Newborn Screening Blood Test?

A provider, usually a nurse, will visit you and your baby in your hospital room. They will ask if your baby has had breast milk or formula. This is because some of the tests aren’t accurate if your baby hasn’t had at least one feeding.

The provider will explain the newborn screening, which they may call a NBS screening. They will clean your baby’s heel with an alcohol wipe. Then they will prick your child’s heel with a very small needle.

Next, they will dab the blood onto a special filter paper that absorbs the blood. They will send this paper to a lab.

The lab will use special techniques to look for various proteins in the blood samples. These proteins occur at higher or lower levels when a child has one of the diseases included in the screening.

Will the blood test hurt my baby?

Your baby will feel the needle prick. They will probably cry, but the pain only lasts a few seconds.

Swaddling the baby during the test and feeding or cuddling them right after can make the process easier.

What Do the Newborn Blood Screening Results Mean?

A “positive” or “high-risk” screening test doesn’t mean your baby has a disease. Your baby could have higher- or lower-than-normal levels of a protein for other reasons. It could be due to stress, a premature birth, an error in the screening process, or another reason.

If the newborn screening result is a positive or high risk for any disease, you’ll need to take your baby for more testing for that disease. Your provider will connect you with a specialist who can do this testing. Your baby may need more blood tests, urine tests, or other tests to either confirm or rule out a diagnosis.

If further testing does show your child has the disease in question, they’ll need extra care. They may need medication, a special diet, and more doctor’s visits.

A negative or low-risk result means it’s very unlikely your child has any of the diseases included in the screening program. It’s still possible, however, because the screenings aren’t 100% accurate.

In the case of a “false negative” result, doctors would pick up the problem after a child shows symptoms.

Critical Congenital Heart Disease Screening

On top of the blood test, your child will have a screening to check their heart for defects. This is a painless test. The provider will put a sensor on your child’s wrist or foot.

Without poking the skin, the sensor measures the level of oxygen in your baby’s blood. If the reading shows lower than normal oxygen levels, your baby needs further tests. They may need an ultrasound of the heart or an electrocardiogram to measure the electric signals of the heart.

If further testing reveals a problem with the heart, your baby may need medication or surgery.

Hearing Screening for Newborns

On top of checking your child’s blood and heart, newborn screenings after birth also include a check of their hearing. For the newborn hearing screening, the provider will place sensors on your baby’s head. They will play soft sounds for your baby with special earbuds or headphones.

The sensors measure vibrations in the ear, electrical signals in the brain, or both.

If your child fails the screening, they will need further hearing tests to confirm or rule out hearing loss.

The brain responds better to earlier treatments for hearing loss, compared to later ones. That’s why it’s important to pick up hearing loss early. Read more about the newborn hearing screen.

How Long Will It Take To Get My Newborn Screening Results?

For the hearing and heart screening, the provider will let you know right away if your child passed, or needs more testing. For the blood screen, the results should be ready in about a week. If there is a positive or high-risk result, your health provider will call you.

The HRSA recommends parents ask about the newborn screening results in the first routine doctor’s appointment. Even though you should receive a call if the screen is abnormal, it’s best to double-check.

Dr. Michael Celluci. Newborn screening tests. Nemours KidsHealth. Link

Centers for Disease Control and Prevention. Newborn screening portal. Link

Centers for Disease Control and Prevention. Critical Congenital Heart Defects. Link

Health Resources and Services Administration. Newborn screenings in your state. Link

Health Resources and Services Administration. Newborn screening process. Link

Health Resources and Services Administration. Newborn screening results and follow-up. Link

MedlinePlus. Newborn screening tests. Link

About Pediatrics

From nutrition to illnesses, from athletics to school, children will face many challenges growing up. Parents often will make important health care decisions for them. We hope to help guide both of you in that journey. UPMC Children’s Hospital of Pittsburgh is a national leader in pediatric care, ranking consistently on U.S. News & World Report’s Best Children’s Hospitals Honor Roll. We provide expert treatment for pediatric diseases, along well-child visits, urgent care, and more. With locations across Pennsylvania, Maryland, and West Virginia, you can find world-class care close to home. We also work closely with UPMC Magee-Womens Hospital, a national leader in care for newborns and their mothers. Our goal is to provide the best care for your children, from birth to adulthood and beyond. Visit our website to find a doctor near you.