Possible Test Results
In most cases, since the diseases screened for are rare, the results are normal, that is, babies do not have the diseases. If the results are normal, you will not be contacted. No news is good news!
However, you may be contacted if a second blood or urine sample is needed. It’s nothing to be alarmed about. It might just mean that the first sample was unusable. Follow the instructions you are given.
Sometimes screening test results are abnormal, but this does not necessarily mean that the baby has a disease. If the results are abnormal, you will be contacted around one to two weeks after the sample is taken. You will quickly be directed to a referral centre for more advanced tests.
If the result is abnormal, the baby must be seen quickly, either to receive the care and treatment they need if they have a disease or to reassure you if they do not have a disease.
Sometimes a disease that is not screened for is discovered during advanced testing. In this case, the child will receive medical follow-up for this disease.
If you have questions about the test results, contact the hospital centre responsible for testing and test results follow-up:
Centre hospitalier universitaire de Québec – Université Laval
Toll-free line: 1 855 654-2103
Centre intégré universitaire de santé et de services sociaux de l’Estrie – Centre hospitalier universitaire de Sherbrooke
Toll-free line: 1 855 905-5253
Result that shows the child is a carrier of a defective gene
Screening tests or some more advanced tests may reveal that your child is a healthy carrier of a defective gene associated, for example, with sickle-cell anemia or cystic fibrosis without, however, having the disease.
As a healthy carrier, your child is not sick, is not at risk of developing the disease and does not require any particular follow-up. However, once they reach adulthood, they could pass the disease on to their children if they conceive a child with someone who carries the same defective gene.
If your child is a carrier, there is a strong possibility that one of the parents is also a carrier. Tests will be offered to both parents to find out if you could pass the disease on to any future children.
To find out the chances of passing on the gene for a disease or of having a child with the disease, go to the page Recessive hereditary disease transmission.
If you are still worried about your child’s health, tell your doctor. They will be able to determine if another assessment is necessary.
Note, however, that if your child is a healthy carrier, you will not necessarily find out. For hemoglobin disorders, for example, such as sickle cell anemia, you must submit a request to find out your child’s carrier status result. For cystic fibrosis, for example, you will find out if your child is a carrier if they had to have an additional test after the blood test and this test, called a sweat test, shows that your child does not have the disease. To find out more about these two examples, go to the pages Sickle cell carrier and Cystic fibrosis carrier status.