What is the goal of genetic testing and screening?
It is possible to perform genetic tests at all stages of life, from the embryonic stage to adulthood: • During in vitro fertilization, preimplantation genetic testing can be carried out on the in vitro embryo before transferring the embryo to the uterus; • During pregnancy, prenatal genetic testing can be carried out to monitor the health of the developing fetus and of the mother; • At birth, some genetic tests are performed systematically, as part of pediatric care. This is known as newborn screening and it is carried out on all newborn babies born in the majority of industrialized nations. In Quebec, the fees for these services are covered by the Minister of Health and Social Services. Therefore, all newborns in Quebec have a blood sample taken from their heel and collected on filter paper. The tests conducted on these samples enable the identification and rapid treatment of children affected by or at risk of developing tyrosinemia, phenylcetonuria, and congenital hypothyroidia.
