Québec’s Neonatal Blood and Urine Screening Program is aimed at detecting certain rare diseases in newborns. Detecting and treating a rare disease before the appearance of symptoms reduces the risk of serious and permanent complications for the child.
The program comprises two screening tests:
- neonatal blood screening
- neonatal urine screening
The blood and urine samples, screening results and personal information (e.g. name, date, place of birth) are stored in a confidential manner.
It is recommended that screening be done before the end of the neonatal period, i.e. before the newborn is 28 days old.
Neonatal Blood Screening
The nurse or midwife ensures that the parents understand the advantages and disadvantages of screening, and that they have a right to refuse it. A parent’s verbal consent must be obtained before a few drops of blood can be taken from the newborn’s heel.
The test is performed in the first 24 to 48 hours after birth. The blood sample is sent for analysis by the hospital or birth centre to the Centre hospitalier universitaire de Québec – Université Laval.
Blood screening is free of charge, and is done before mother and child leave the hospital or birth centre.
Note
After verbal consent is obtained, the nurse or midwife signs the sample collection form to indicate the parent’s verbal agreement. If the parents refuse neonatal blood screening, the nurse or midwife indicates this on the form, signs it, and has it signed by one of the parents.
Neonatal Urine Screening
One of the parents must collect a urine sample from the infant’s diaper, 21 days after birth. The hospital staff or midwife provides a free kit for collecting the sample at home. The kit includes instructions for obtaining the sample.
The parent’s consent is confirmed by sending in the urine sample.
Results of Screening Tests
If the results are normal (no disease detected), the parents are not called. If the sample is unusable, they are asked to provide a second sample.
In the event of positive results (meaning that a disease was detected), the parents are contacted within 2 or 3 weeks after the sample was taken. They are directed to a medical specialist as soon as possible so that the child can be examined more thoroughly.
Diseases Detected
The following diseases are detected:
- Endocrine diseases – prevent hormones from functioning normally and cause stunted growth or intellectual disabilities (e.g. congenital hypothyroidism).
- Metabolic diseases – prevent the normal digestion of food and cause an accumulation of toxic waste in the body (e.g. phenylketonuria, tyrosinemia type 1, urea cycle disorders). Some metabolic diseases can be screened for in the blood, others in the urine.
- Hemoglobin diseases – deform red blood cells and prevent them from circulating normally. These diseases can cause pain crises and various complications. One such disease is sickle cell anemia.
In spring 2018, cystic fibrosis will be added to the diseases screened by the program.
Sickle Cell Anemia
A child who has the sickle cell anemia gene is not ill, and his or her risk of becoming ill is no greater than that of someone who does not have it.
Parents are not automatically contacted if screening reveals that their child has the gene. They are only sent the result if they request it.
Test results can be useful when 2 people wish to have a child. If both have the gene, their child could develop the disease.
Child Born Outside of Québec
A child born in Canada, but outside of Québec has probably had neonatal blood and urine screening. However, the diseases screened for in other provinces or territories may not be the same as those in Québec. In case of doubt, parents can contact a Québec nurse or physician to have the child tested under Québec’s Neonatal Blood and Urine Screening Program.
A child born outside of Canada can be tested under the Neonatal Blood and Urine Screening Program after arriving in Québec. For adopted children, this procedure is usually handled by international adoption clinics. If it was not done or the parents are unsure, they can contact a Québec nurse or physician.
Public health Act (RLRQ, chapter S-2.2)
