Under the Québec Neonatal Blood and Urine Screening Program, blood and urine are screened to detect certain rare diseases that may be present at birth so that they can be treated as early as possible. Early treatment, even before the first symptoms appear, can prevent serious and permanent consequences and give affected children the best chance of developing normally.
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Screening tests are done using a blood sample and a urine sample.
The blood sample, that is, a few drops taken from the baby’s heel, is collected in hospital or at the birthing centre by a nurse or midwife. This is done within 24 to 48 hours of the child’s birth.
The urine sample, that is, a small amount of urine taken from the baby’s diaper, is collected at home by the parents on Day 21 after the child’s birth using the material provided by hospital staff or the midwife.
Steps to follow to collect the urine sample
Collect the urine sample in the morning, if possible. To avoid affecting the test results, do not clean your baby’s bottom with commercial baby wipes or apply any cream, oil or powder before you collect the sample. Here are the steps to follow:
Put the absorbent pad provided in the diaper with the plastic film against the diaper surface.
Remove the pad as soon as your child has urinated to avoid contamination of the pad by stool. If the pad is contaminated by stool, repeat the procedure using the second pad provided.
Remove the blotting paper from the yellow form and put the urine-filled pad on it. Press firmly so that both sides of the blotting paper are soaked.
Leave the blotting paper to dry on a clean, dry surface.
Fill out the yellow form. Write down the baby’s approximate weight, type of feeding and any other information requested. Confirm your address and telephone number.
When the blotting paper is dry, put it in the reply envelope with the yellow form.
Put a stamp on the reply envelope and mail it.
Blood and urine screening are offered free of charge to all newborns in Québec who are insured by Québec’s health insurance plan (RAMQ).
Babies born outside Québec who are insured by the RAMQ can also have these screening tests free of charge. Their parents must, however, get a prescription for the tests from a doctor as soon as possible.
Although recommended, screening is voluntary.
If you have any questions about screening in general or if you are hesitant about having your baby undergo the tests, discuss it with a health professional during your pregnancy follow-up or with the nurse or midwife when it is time for the blood sample to be taken from your baby’s heel.
If you do not want your baby to have blood screening, tell the nurse or midwife before the sample is taken. She will ask you to sign a form confirming that you have refused screening. For urine screening, when you send in the sample you are confirming that you want your baby to be screened.
If you do not want your baby to have urine screening either, do not collect the urine sample. If you send the sample in, it will be seen as confirmation that you want urine screening to be done.
Limitations and disadvantages of screening
Despite being highly effective, newborn blood and urine screening has limitations. Although rare, these situations can occur:
- your child has one of the diseases screened for, but it was not detected;
- the diagnosis is difficult to confirm and the doctors need to see your child several times for further testing to confirm whether or not they have the disease;
- your child suffers the effects of the disease despite the treatment provided;
- your child does not have the disease but was given preventive treatment while waiting for the results of other tests. Of course, treatment is stopped, but you will have been worried about your child’s health.