User: CIUSSS de l’Estrie
Each year in Quebec, more than 2,000 invasive procedures, such as amniocentesis, are performed on pregnant women considered at risk to confirm or rule out the presence of a serious genetic condition in the fetus. While effective, these procedures carry a risk of miscarriage.
This research proposes an innovative and safe alternative: a non-invasive prenatal test based on a simple blood sample from the pregnant woman. This sample contains a small amount of fetal DNA, which, thanks to advanced genomic analysis methods and artificial intelligence, can be used to screen for serious diseases caused by mutations in approximately 2,000 genes.
The goal of the project is to validate the reliability of this test in detecting these genetic diseases during pregnancy. This advancement could provide an alternative to invasive procedures, which are often declined by some parents due to the associated risks. The test would allow parents to better prepare for their child’s birth or make informed decisions regarding interventions during pregnancy or after delivery, in the best interests of the child and their family.
By integrating this test into the healthcare system, the number of miscarriages linked to invasive procedures could be significantly reduced, while optimizing the use of specialized medical resources. This progress would contribute to a safer and more effective approach to managing high-risk pregnancies.