Grant: Doctoral Award - Frederick Banting and Charles Best Canada Graduate Scholarships

In up to 10% of pregnancies, the baby does not grow to its full potential. These growth-restricted babies are more likely to be born early or with birth defects, and they are at increased risk for poor infant, childhood, and adult health outcomes. Fetal growth restriction typically occurs when the placenta, the organ that transfers oxygen and nutrients to the developing baby, does not work efficiently. One cause of poor placenta function is genetic abnormalities found in the placenta but not the baby. Previous research in this area only focused on large chromosome errors in the placenta, but with technological advances, we can now detect deletions or duplications of smaller sections of the chromosomes, called copy number variants. These copy number variants likely also account for poor placenta function, and as a result, poor fetal growth. Using DNA samples collected from the placenta and the baby's umbilical cord from 30 pregnancies with evidence of poor fetal growth and from 30 pregnancies with a healthy baby, I will: 1) Determine how frequently copy number variants are found in the placenta but not the baby 2) Assess if copy number variants confined to the placenta are more frequent in pregnancies where the baby is born too small 3) Determine what effect these copy number variants have on the function of the placenta The results of my research will be important for both understanding the causes of poor placenta function and for the interpretation of prenatal testing. Increasingly, prenatal genetic testing is done by analyzing DNA from the placenta that is found in the mother's blood. This project will help us to understand how often a genetic abnormality may be present in placental DNA but not actually present in the baby, which is important for pregnancy counselling. Overall, this project will address the major gap in our knowledge about the incidence and impact of copy number variants in the placenta on fetal growth and development.