Grant: Project Grant

A growth restricted fetus is more likely to be born premature or with birth defects and is at increased risk for adverse neonatal, childhood and adult health outcomes. Poor growth is most often linked to a placenta that does not deliver oxygen and nutrients efficiently tot eh developing baby. One cause of poor placenta function, present in ~10% of pregnancies with pathologically small babies, is a chromosome (genetic) abnormality found in the placenta that is not present in the baby. This is referred to as confined placental mosaicism. In the past only large chromosome errors could be tested for in the placenta, but with advances in diagnostic technologies, smaller genetic changes can now be detected. These likely also account for a portion of small babies. Our goal is to determine the incidence of genetic abnormalities confined to the placenta and how often they explain why a baby is born too small. This genetic data is also important for interpreting prenatal testing; increasingly, prenatal testing is done by analyzing cell-free DNA derived from the placenta that circulates in maternal blood. Our goal is to fill the major gap in knowledge concerning the incidence and impact of placental mosaicism on fetal growth and development.