Prenatal diagnostic techniques and IVF in patients with coagulopathies

Hemophilia and other hereditary coagulopathies tend to be associated with a huge negative impact both for individuals who suffer the disease and for their families. In this respect, hemophilia carriers feel the need to make reproductive decisions which will inevitably affect their children, their families and from themselves. Genetic and reproductive counseling is of the essence to alleviate these women's distress. Prenatal diagnosis and preimplantation genetic diagnosis (PGD) allow couples at high-risk of transmitting genetic diseases like hemophilia and other hereditary coagulopathies to prevent the birth of children with the disease. The main difference between prenatal diagnosis and PGD is related to the time at which diagnosis is made. Prenatal diagnosis is done when the woman is pregnant, and both the performance of the technique and its result can affect the course of pregnancy. PGD is a diagnostic procedure in which embryos created in vitro are analyzed for genetic defects before being transferred to the uterus. Performance of both prenatal diagnosis and PGD is subject to a few prerequisites: the establishment of an exact clinical diagnosis, an understanding of the parental genetic alterations that are responsible for the disease and technical feasibility of genetic diagnosis. These couples should be provided with complete, up-to-date and easy-to-understand information.