The Québec Newborn Blood Screening Program screens children for type 1 tyrosinemia, phenylketonuria, congenital hypothyroidism and medium-chain acyl-CoA dehydrogenase deficiency (also called MCADD), and makes medical treatment possible before symptoms appear.
Blood samples are taken at the hospital where the birth took place, before the mother and infant leave the hospital. If the birth was at a birthing house, a midwife takes the blood samples. Ideally, the test is done within 24 to 48 hours following the birth. However, a test done later is still valid.
As of November 4, 2013, a screening test for sickle cell anemia is done on babies who are born in hospitals and birth centres in the Montréal and Laval regions. Screening for that disease will be offered progressively in the other regions.
Child born in Canada, outside Québec
If a child is born in Canada, but outside of Québec, it is very likely that he or she had a newborn blood screening test. However, the illnesses that are screened for may vary according to the province or territory where the infant is born. If parents are in doubt, they may contact a physician in Québec to have the infant screened under the Programme québécois de dépistage néonatal sanguin.
Child born outside Canada
A child born outside of Canada may be screened under the Programme québécois de dépistage néonatal sanguin when he or she arrives in Québec. In the case of an adoption, this step is usually taken care of by the international adoption clinics. If this has not been done, or when in doubt, parents may contact a physician in Québec.
Analysis of the samples
The blood samples are sent to the Centre hospitalier universitaire de Québec ( CHUQ), where they are analyzed. The CHUQ is in charge of ensuring follow-up of the results.
Results of the screening test for sickle cell anemia
Since children who carry the sickle cell anemia gene are not ill, parents of those children are not automatically informed of the results of the screening test. Parents who want to obtain the test results can ask for them.
