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Results of Newborn Screening Explained
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 (aka pulse oximetry screening).
Ask your pediatrician, midwife, or hospital where your child was born for their newborn screening test results.
Blood spot screening
Once your baby's blood spots arrive at the Newborn Screening Program, screening takes several days. When screening is complete, you can ask your baby’s doctor to request a copy of the results. A good time to ask about your baby's results is at your first well-child visit. Be sure to give the hospital staff or midwife the name of your baby’s doctor or clinic so that results can be promptly sent.
There are four possible results in newborn blood spot screening: Within Normal Limits/Negative, Trait, Borderline, and Positive/Abnormal.
- A Within Normal Limits or Negative result means that the screen was normal for the disorder and no additional follow-up is required. Even if the screen for a disorder was normal, if a child has symptoms for it, they should be evaluated immediately.
- Results are returned to the provider who ordered the testing (birth hospital, midwife or clinic).
- 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 of the result.
- Newborn Screening Program staff will mail you a packet of information about this result.
- Discuss this result with your baby's doctor.
- For more information, see the Hemoglobin and Sickle Cell Trait page.
- A borderline result falls between the normal and positive range. Most of the time these results resolve upon further testing.
- 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 Borderline Newborn Screening Results: Family Fact Sheet (PDF).
- A Positive result means that the screening result was abnormal and further testing is needed.
- 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 Blood Spot Disorder Fact Sheets.
- An unsatisfactory result means that the screen was unable to be interpreted.
- A reason for an unsatisfactory screen can include: not enough blood, early collection, if the screen arrives to our lab more than two weeks after it was collected.
- An inconclusive screen can be due to: an issue with the laboratory test, baby is older than our screening cut offs, which is common for Cystic Fibrosis and XALD testing.
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).
- A PASS result means that the infant was found to have normal hearing in both ears at the time of the screen.
- The hospital or out-of-hospital birth provider should send the results to your baby's doctor or clinic.
- Though it is unlikely that your baby has hearing loss, it is important to make sure they meet certain language milestones. For more information on speech and language developmental milestone, please see Hearing and Speech Milestones: Newborn Hearing Screening.
- A REFER result means that the infant is at risk for hearing loss and requires follow-up.
- A follow-up appointment to have your baby's hearing rechecked should be scheduled for you. The appointment should be no later than two weeks after the initial hearing screen.
- If your baby does not pass the hearing rescreen in the follow-up appointment, further testing is necessary. An appointment with an audiologist should be scheduled for you as soon as possible.
- Newborn screening does not give final diagnoses. Children may receive a REFER result but later be found to have normal hearing.
- Following up with these hearing screens and tests is important for identifying if your baby has hearing loss.
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. 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.
- A Pass result means that the infant was found to have normal oxygen levels and is not at risk for a critical congenital heart disease (CCHD). No further testing is needed.
- The hospital or out-of-hospital birth provider should send the results to your baby's doctor or clinic.
Pulse oximetry screening does not detect all cases of CCHD. It is important your baby receives regular checkups with a doctor. You can watch your baby's H.E.A.R.T. for signs of CCHD:
Heart rate – beating too fast or too slow?
Energy – overly sleepy or agitated?
Appearance – pale or blue skin?
Respiration – breathing too fast or too slow?
Temperature – cold to the touch?
- A Did Not Pass result means that the infant had lower than expected oxygen levels and further testing is needed.
- 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, or an infection. - 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.