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Newborn Screening Ontario
Screening Results

Screen Positive Follow-Up

The image below walks you through the process that happens when a baby has a screen positive result.

Please click "Next Step" to reveal the next step in the process.

  • Screen Positive Result

    Next Step
    • Disease ruled out (false positive)

      No further follow-up is needed.

      • If diagnostic testing rules out the disease for which a baby screened positive, the newborn screening result is considered a false positive result. In other words, false positive results are when a baby screens positive for a disease, but follow-up  testing shows that the baby does not actually have the disease.
      • False positive results cause unnecessary worry for families but come as a by-product of striving to find every baby who has the disease. Sometimes false positive newborn screening results can be explained, but most often there is no explanation.
    • Inconclusive

      The Regional Treatment Centre continues to follow the baby and more testing may be needed.

    • Disease confirmed (true positive)

      The specialist physician and team provide follow-up treatment and care for the disease.

      • If a baby is diagnosed with the disease for which he/she screened positive; the newborn screening result is considered a true positive result and healthcare providers at the Regional Treatment Centre will discuss treatment and management options with his/her parents.
      • There is wide variation in the clinical presentation of the diseases that the newborn screen detects. Therefore, some babies who have had diagnostic testing indicating that they have a disease will remain healthy or have only very mild symptoms, even without treatment.
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