Once the Ontario Newborn Screening Program (ONSP) has received and analyzed the specimen card, one of the following will occur :

If the baby is "screen negative", he or she has a low risk of having any of these disorders. In this case, a report is mailed to the hospital or health care provider that sent in the baby's sample.

If the baby's sample is unsatisfactory (for example, if it was taken too early, or if there was not enough blood to do the testing), the ONSP will contact the hospital or health care provider that sent in the sample and ask them for a new sample. The health care provider who submitted the sample should call the patient to tell them that the baby's test needs to be repeated and make arrangements for another sample to be taken.

If  the baby is screen positive, this does NOT mean that the baby has a disorder; however, it does mean that the baby has an increased chance to have a disorder. A doctor, genetic counsellor, or nurse from the ONSP may contact the baby's parent(s)/guardian(s) or health care provider directly about the result. An ONSP physician will refer the baby to physicians at a regional treatment centre for follow-up diagnostic testing to determine if the baby has the disorder. In some cases, ONSP staff work directly with health care providers and families to arrange testing.

The treatment centre physicians will provide the referring physician at the ONSP with follow-up information about the baby. This includes medical information, which tests were done, the results of those tests, and whether or not the baby has the disorder ( see an example of a Diagnostic Evaluation Form).

This feedback allows the ONSP to make sure that screen positive babies receive appropriate and timely care. It is also important for you to note that the information from the evaluation form will be used to make sure that the ONSP provides quality service to the baby and all babies born in Ontario. The ONSP health care providers review this information and may contact you, the baby's parent(s)/guardian(s), or the regional treatment centre if they have questions about the baby's care. Parents/guardians may choose not to share this information, in which case, they should be encouraged to discuss this with their health care provider or contact the ONSP.

If a diagnosis of a disorder is confirmed, the treatment centre will provide management, counselling and follow up. A report is also issued by mail to the hospital or health care provider that sent in the baby's sample, and should be filed in the baby’s medical records.

It's important to remember that, as with all screening tests, there will be false positive and false negative results. False positives will increase parental anxiety, while false negatives will give a misleading sense of reassurance. If a baby in your care displays symptoms of a particular disorder, the child should be investigated and managed appropriately regardless of the results of the newborn screen. The relevant specialist should be contacted immediately for further advice.

There is wide variation in the clinical presentation of the disorders that the newborn screen detects. Therefore, some affected individuals (babies who have had diagnostic testing indicating that they have a particular disorder) will remain asymptomatic even without treatment or have very mild symptoms.

Call the ministry INFOline at 1-866-532-3161
TTY: 1-800-387-5559

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