Programs
This page is meant to help families understand results from newborn screening tests. The below explains results from blood spot screening, hearing screening, and critical congenital heart disease (CCHD) screening (pulse oximetry screening).
Blood Spot Screening
Once your baby’s specimen arrives at the Newborn Screening Laboratory, it can take several days to receive the results. When screening is complete, your baby’s doctor will receive a copy of the results. A good time to ask about your baby’s results is at your 2-week well-child visit.
There are four possible results in newborn blood spot screening: Within Normal Limits/Negative, Trait, Borderline, and Positive/Abnormal.
Within Normal Limits/Negative Result
A Within Normal Limits or Negative result means that the screen was normal for the disorder and no additional follow-up is required. Newborn screening does not provide final diagnoses. It only raises flags for doing further testing. Even if the screen for a disorder was normal, if a child has symptoms for a condition, they should be evaluated immediately.
Results are provided to the birth hospital or out-of-hospital birth provider.
At the time of birth, be sure to give the hospital staff or out-of-hospital birth provider the name of your baby’s doctor or clinic so that results can be promptly sent.
Trait Result
A Trait result indicates that the infant is likely a carrier of a particular hemoglobinopathy.
Newborn Screening program staff will fax your baby’s provider the result.
Newborn Screening Program staff will mail you a packet of information about this result.
Your baby’s doctor will likely discuss this result with you at a regularly scheduled well-child visit.
Visit the Uriel E. Owens Sickle Cell Disease Association of the Midwest website for more information.
Borderline Result
A Borderline result means that the screening result was between normal and abnormal.
Newborn Screening Program staff will call your baby’s doctor or clinic to inform them of the result.
Your baby’s doctor will contact you to arrange for a repeat newborn screen or other recommended blood work.
For more information, see the Newborn Screening Results Follow-Up page at the Health Resources and Services Administration (HRSA) website.
Positive/Abnormal Result
A Positive result means that the screening result was abnormal and further testing is needed, often by the baby’s primary care doctor or a specialist.
Newborn Screening program staff will call your baby’s doctor or clinic to inform them of the result.
Your baby’s doctor will contact you to discuss the next steps.
More testing is usually needed to know if your baby has the disorder.
There are interventions and treatments available to babies who are confirmed to have a disorder identified by newborn screening.
Following up with your baby’s doctor is very important to your baby’s health.
For information on a specific disorder, see list of disorders.
Note: If your baby receives a result not listed above, your baby’s doctor will discuss the result with you and tell you if further testing or diagnostics is needed.
Hearing Screening
Your baby’s hearing results will be available on the same day of screening. A nurse or midwife will explain the results and discuss whether follow-up testing is needed. There are two possible hearing screen results: PASS and REFER (did not pass).
PASS Result
A PASS result means that the infant was found to have normal hearing in both ears at the time of the screen.
The initial hearing screening results are entered on the birth certificate by the birth registrar and sent to the Office of Vital Statistics and the Newborn Screening Program.
Most newborns who pass the hearing screening have normal hearing. However, some newborns might hear well enough to pass a screening, even though their hearing is not perfectly normal. It is a screening and not a diagnostic test, and so the newborn hearing screening cannot properly identify 100 percent of babies with hearing loss.
Additionally, some newborns may pass the screening at birth, yet they can lose hearing from illness, medications, or genetic reasons. This hearing loss can come on suddenly or gradually over time.
Because of these factors, it is important that, even if your newborn passes the screening, you contact your child’s pediatrician and get a referral to an audiologist for hearing testing if you have any concerns for your child’s hearing.
REFER (Did Not Pass) Result
A REFER result does not necessarily mean that your baby has hearing loss, but it does mean that your baby needs more testing to know for sure. Babies with a REFER result will be scheduled for on outpatient rescreen within 2 weeks or referred to see an audiologist (hearing specialist) as soon as possible.
A nurse or midwife will notify you and your baby’s doctor of the result.
Newborn screening does not give a final diagnosis. Children may receive a REFER result but later be found to have normal hearing.
Following up with these hearing rescreens and evaluations with an audiologist is important. It is the only way to determine that your baby hears at levels where the consonants and vowels are produced. If your baby cannot hear at these levels they may not be able to produce speech and language. Even if it seems to you that your baby has normal hearing, it is important to have the re-screen if your baby did not pass the first newborn hearing screen.
Critical Congenital Heart Disease Screening
Using a test called pulse oximetry, your baby’s critical congenital heart disease (CCHD) screening results will be available on the same day of screening. During the test, a small soft sensor is wrapped around the baby’s right hand and one foot. The sensor is hooked up to a monitor for about 5 minutes and measures the oxygen level in the blood and the heart rate. It is fast, easy, and does not hurt.
A nurse or midwife will explain the results and discuss whether follow-up testing is needed. The possible results are Pass and Did Not Pass.
PASS Result
A Pass result means that the infant was found to have normal oxygen levels and is not at increased risk for a critical congenital heart disease (CCHD). No further testing is needed.
A nurse or midwife will notify you and your baby’s doctor of the result.
The hospital or out-of-hospital birth provider will send the results to your baby’s doctor or clinic.
Did Not Pass Result
A Did Not Pass result means that the infant had lower than expected oxygen levels and further testing is needed.
A nurse or midwife will notify you and your baby’s doctor of the result.
Your baby’s care provider will immediately arrange for further testing to determine if your baby has critical congenital heart disease (CCHD). It is important to remember that a Did Not Pass result does not necessarily mean that your baby has CCHD. However, it is important for follow-up testing to occur as soon as possible. Only through follow-up can you determine whether or not your baby has a heart problem, breathing problem, an infection, or another issue/problem.
Babies with CCHD often need surgery within the first year of life. Each baby with CCHD will require a unique treatment plan developed for his or her particular heart defect. A heart specialist or cardiologist will talk to you about your baby’s treatment plan.