Since December 11, 2023, screening for spinal muscular atrophy and severe combined immunodeficiency is offered to all babies born in Québec, as part of the Québec Neonatal Blood and Urine Screening Program.
Description
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.
Procedure
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.
Eligibility
Blood and urine screening are offered free of charge to all newborns in Québec.
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.
Diseases screened
The diseases detected, that is, 11 diseases by blood screening and 7 diseases by urine screening, may take different forms, but screening is done only for the most severe forms.
- Spinal muscular atrophy
- Cystic fibrosis
- Congenital hypothyroidism
- Hemoglobin diseases
- Metabolic diseases
- Severe combined immunodeficiency (SCID)
If left untreated, the diseases detected prevent the body from functioning normally. They can have significant health effects for the child and even be life threatening.
Spinal muscular atrophy
Spinal muscular atrophy 
is a rare inherited genetic disease caused by the mutation of a gene whose function is to produce a protein that ensures the normal movement of the muscles and the control of the arms, legs, abdomen, head and neck, chest, and respiratory muscles. The disease is characterized by a progressive and irreversible loss of the cells that control the muscles. There are now several treatments that could improve the quality of life of children born with a spinal muscular atrophy diagnosis.
Cystic fibrosis
Cystic fibrosis is a genetic disease that causes secretions to become thick and sticky, interfering with the proper function of the lungs and pancreas. It can result in repeated infections and poor absorption of food, delaying the child’s growth. The disease is detected by a blood test. An additional test, a sweat test, must be done to make a diagnosis.
Congenital hypothyroidism
Congenital hypothyroidism is a disease that causes growth delays and severe intellectual disabilities. Starting treatment in the first days of life allows the child to develop normally. The disease is detected by a blood test.
Hemoglobin diseases
The hemoglobin diseases detected by screening affect the shape of red blood cells, preventing blood from circulating normally in the body. Starting treatment in the first weeks of life reduces the risk of complications and the health effects for the child.
| Type of specimen | Diseases detected |
|---|---|
| Blood |
|
Metabolic diseases
The metabolic diseases detected by screening prevent the normal use of food consumed, which can cause toxic waste to build up in the body. The child’s overall condition can deteriorate rapidly. Serious complications can also lead to intellectual disability, permanent damage to various organs, such as the kidneys, liver, brain and heart, as well as muscle pain. Starting treatment before the disease becomes apparent can prevent these complications. Some metabolic disorders are detected by a blood test and others by a urine test.
| Type of specimen | Diseases detected |
|---|---|
| Blood |
|
| Urine |
|
Severe combined immunodeficiency (SCID)
SCID is a rare and serious disorder that affects the immune system, which is responsible for defending the body against infections. The immune system of patients with SCID is unable to fight microbes like bacteria, which can lead to serious and life-threatening infections. With neonatal screening, children born with a SCID can now benefit from very rapid treatment before an infection, which increases their chances of survival after treatment.
Normal result
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.
Abnormal result
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:
Blood screening
Centre hospitalier universitaire de Québec – Université Laval
Toll-free line: 1-855-654-2103
Urine screening
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.
Treatment
If your child has one of the diseases screened for, you will have to take them to various treatment and follow-up appointments. For most diseases, your child will have to have treatment continuously, throughout their life.
Treatment must be started before signs of the disease appear. If you wait until signs appear, there might already be significant health effects for your child. In most cases, while treatment does not cure the disease, it greatly improves the quality of life of affected children.
Treatment may involve:
- following a particular diet;
- taking medications or vitamins;
- planning specialized medical follow-up.
Storage of samples and protection of privacy
Personal information about the parents and the child (e.g., name, date, place of birth) and blood and urine samples collected during screening activities will be stored in a confidential manner by the hospital centres responsible for testing.
"Normal" samples will be destroyed after two years, in the case of blood samples, and after five years, in the case of urine samples. All "abnormal" samples will be stored long term.
Information may be shared in a confidential manner between those responsible for screening and health professionals solely in order to:
- carry out further testing for the child’s benefit;
- provide the child with the care they need;
- ensure the evaluation, quality assurance and continuous improvement of screening services.
Last update: October 2, 2023
