Madison Pilon
Supervisor: Oana Caluseriu
Project: Province-wide prenatal genetic testing
"This project will improve our understanding of the clinical presentation of rare genetic diseases and how these may evolve throughout pregnancy."
Prenatal genetic testing across Alberta
Within any pregnancy, there are many moments of important decision-making that can impact the health of both the mother and child. With the increasing use of prenatal genetic testing, physicians can provide families with earlier detection of life-changing and emotional diagnoses. This additional time is vital in helping families feel empowered in their decision-making and in providing medical and social support for managing these complex pregnancies.
One of the most powerful technologies currently being utilized in clinical genetic analysis is whole exome sequencing (WES). By using WES, physicians can examine the genes of the fetus and help predict the likelihood of the child developing different genetic conditions and syndromes. Previous work done within our group has highlighted the benefit of genomic testing during the newborn and infancy periods, therefore this project aims to determine whether there is increased benefit in testing further in advance before the child is born in the prenatal period.
The main portion of this project will focus on analyzing the outcomes of approximately 150 cases that underwent WES and characterize their observable traits through a comprehensive chart review. These pregnancies were referred to medical geneticists in Edmonton or Calgary during pregnancy and subsequently received WES testing during the prenatal period. These genomes can first be analyzed to identify disease-causing variants, as well as those variants of unknown disease-causing significance.
For each fetal genome, this genetic data will then be compared with the pre- and post-birth clinical data and early infancy outcomes to provide an estimate of the diagnostic yield of WES in the prenatal period. Altogether, this project will demonstrate the extent to which a province-wide prenatal genetic testing program would provide an overall benefit to the Alberta population.
Madison Pilon was supervised by Oana Caluseriu and her summer studentship was funded by the Stollery Children’s Hospital Foundation. She is enrolled in the Doctor of Medicine program.
