ABSTRACT

The role of genetic susceptibility and gene-environment interactions in pregnancy outcomes is an area of emerging interest. Growing evidence indicates that the molecular mechanisms controlling human pregnancy are influenced by human gene variation. With recent advances in human genetics and molecular biology, genetic contributions to many human diseases have been revealed. In this review, we focus on individual genotypes that modify the risk of adverse pregnancy outcomes such as preterm birth and low birth weight. These outcomes may be influenced by the genotype of the mother or the inherited genotype of the fetus. Understanding the separate or synergistic effects of maternal and fetal genomes allows for birth timing and fetal growth regulation. The aim of this article is to describe the current studies that implicate maternal genetics, and specific genes or pathways, that shape risk for preterm birth or altered birth weight.