Abstract

The phenotypes of triploid fetuses and placentae are now well established and known to correlate with parental origin of the extra haploid set of chromosomes. In fetuses, it is not clear whether there is a direct parent of origin effect on the fetus itself or if the phenotypes are the result of growth differences influenced by abnormalities in growth and function of the placenta. Examining the phenotype of triploid embryos at an earlier stage in gestation, when the placenta effects may be less pronounced, could help clarify this question. A phenotype characteristic of triploidy in the embryonic period has been described; however, parental origin was not determined in these embryonic cases. In the present study, a population of triploid embryos is assessed to determine if there is a correlation between parental origin and phenotype. Parental origin was determined in 27 first trimester miscarriages. Digyny accounted for 19 cases and diandry for eight cases. Assessment of embryonic phenotype with parental origin showed no correlation between the phenotype of the embryo and parental origin of the extra haploid set. While there may be subtle effects of imprinting on embryonic development, they are not as obvious as they are in the mouse, consistent with the general trend of fewer imprinted genes in human beings compared with the mouse.