Description

Newborn screening allows the detection of certain diseases that may be present at birth even if they are not yet apparent. Complete screening requires two tests, one that is done using a blood sample and another that is done using a urine sample.

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Procedure

Screening tests are done using 2 different samples:

  • a blood sample;
  • a urine sample.

Blood sample

A few drops of blood are taken from the baby’s heel 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.

Urine sample

A small amount of urine is taken from the baby’s diaper 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

Collect the urine sample in the morning, if possible. Also, 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.

  1. Put the absorbent pad provided in the diaper with the plastic film against the diaper surface.

  2. 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.

  3. 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.

  4. Leave the blotting paper to dry on a clean, dry surface.

  5. 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.

  6. When the blotting paper is dry, put it in the reply envelope with the yellow form.

  7. Put a stamp on the reply envelope and mail it.

Eligibility

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 and 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.

Voluntary participation

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 when it is time for the sample to be taken.

If you choose not to have your baby screened, 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.

Limitations and disadvantages of screening

Despite being highly effective, 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;
  • your child may develop certain complications associated with the disease detected even if treatment was started early;
  • preventive treatment was started for your child, whereas advanced testing confirms that your child does not have the disease and is healthy. Treatment is stopped, but you will have been worried about your child’s health.