2023 Author: Anita Thornton | [email protected]. Last modified: 2023-11-27 18:44
When you finally leave the hospital with baby, you will be given a kit that will allow you to collect a urine sample. This is the Quebec Urine Screening Program.
We have already taken a blood test (Guthrie's test) at the hospital, which can screen for certain metabolic diseases. Thanks to the urine sample that you will collect in the comfort of your home, we will be able to unmask certain hereditary diseases which, discovered early enough, can be treated, such as various disorders of the urea cycle, hyperglycinemia, metabolic aciduria and various disorders of amino acid metabolism.
Quebec neonatal screening program
Offered free of charge, this screening therefore makes it possible to identify certain disorders of the metabolism of amino acids and urinary organic acids as quickly as possible. Thus, we make sure to start the medical treatment as soon as possible, well before the first symptoms of the disease appear. This test is done by taking a urine sample when the baby is 21 days old.
When you leave the hospital or the birthing center with your baby, you receive the necessarycollection yourself: a return envelope, a form, blotting paper and absorbent pads. In the best of all worlds, parents are asked to take the sample when baby is exactly 21 days old, but, in case of forgetfulness, it is always possible to do so the following days. That being said, it should be noted that the relevance of the test decreases as baby ages.
What is metabolic disease?
Metabolic diseases are defined by the presence of defects and flaws in the genes, which disrupt the way the body makes or destroys certain proteins or enzymes.
Thus, metabolic diseases often affect multiple organs and cause significant dysfunction. These diseases can take different forms, and each case is unique. Remember that hereditary metabolic diseases are rare, and only affect one in 1,500 births.
Even if they do not cure the disease, when treatment is started very early, it is possible to bring significant he alth benefits to the affected child and, thus, improve their quality of life long-term. Moreover, for some of these diseases, treatment started before the onset of symptoms allows a completely normal development of the child.
Your baby's urine sample will be sent to the Center hospitalier universitaire de Sherbrooke, and it is this same establishment that will be responsible forcontact you if the results are not normal. Indeed, no one will contact you if the results are normal. In short: no news, good news! There is no need to worry.
However, if the result is abnormal, you will receive a call from the screeners no later than 3 weeks after the sample is taken. From then on, the specialists will direct you to a referral center in Quebec, where further tests will be carried out. When a diagnosis is confirmed, treatment and monitoring of your child will be immediately undertaken by a team of specialists.
Steps to follow
- Take urine collection in the morning, if possible.
- Do not use wet, commercial-type washcloths to wash your baby's bottom before collection as this will affect test results. Also, do not apply any cream, oil or powder to your baby's bottom before the sample is taken.
- Place the absorbent pad in the diaper (plastic wrap facing the bottom of the diaper).
- Watch your child to remove the tampon as soon as he has urinated to avoid contamination of the tampon by stool.
- If the tampon is contaminated by stool, repeat with the second tampon provided to you.
- Tear off the blotting paper from the yellow form. Place the pad filled with urine on the blotting paper and press firmly to soak it well on both sides.
- Let the blotting paper dryon a clean, dry surface.
- Fill out the yellow form. Enter the baby's approximate weight, type of feeding and other information requested. Confirm your address and phone number.
- When the blotting paper is dry, insert it into the return envelope with the yellow form.
Stamp the envelope and mail it.
Reassure yourself: the results, as well as all personal information on the parents and the child are kept confidential. "Normal" blood samples will be destroyed after 2 years, "normal" urine samples are destroyed after 5 years, while "abnormal" samples are stored long-term for future testing, but always on a confidential basis.
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