P-89: Recurrent Pregnancy Loss and Genetic Counseling

Background: Recurrent pregnancy loss (RPL) is a common and distressing disorder. RPL is a devastating reproductive problem affecting approximately 5% of couples trying to conceive. If we camper the rate of miscarriage in couples may experience RPL with the pregnancy loss rate in general population we may calculate that it is at least two or three times higher than expected. This study aimed to provide recommendations for genetic counseling of couples with recurrent miscarriage. Materials and Methods: The Medline were searched for articles relating to genetic counseling and repeated pregnancy loss that were published from 1990 to 2010, using the following terms: genetic counseling, RPL and genetic factors. Results: A variety of possible etiologies have been described include i) genetic factors ii) hormonal and metabolic disorder iii) uterine anatomical abnormalities iv) autoimmune disease v) thrombophilia , and of course any possible combination of the above listed causes. Chromosomal abnormalities in the embryo are the single most common cause, whereas new data about association of RPL with genetic polymorphism are now being published (genes like SYCP3, VEGF and IL-1 receptor). Chromosomal aberrations in parents are a major pre-disposing factor and causative of abortion if carried over to the embryo. The transmission rate in the embryo can be speculated to be about 50%. Recently, research has generated interest in genetic markers for recurrent loss such as skewed X-chromosome inactivation and human leukocyte antigen-G polymorphisms. Genetic counseling will face different subjects: couples in whom no defined cause of RPL has been yet identified, and requesting suggestion as to the genetic test to be performed, or couples in whom a (genetic) cause has already been found. Conclusion: Discover the new methods of genetic analysis (from copy number variation to high (throughput sequencing), have helped to identify the etiology of RPL in a relevant percentage of cases. Finally The Medical Geneticist will of course deal not only with the problem of RPL, but will take into account any further genetic problem resulting from family history.