Fifteen years experiences of genetic evaluation of recurrent pregnancy loss and infertility

Recurrent pregnancy loss (RPL) or recurrent IVF failure (RIF) and infertility are the main reasons for having no child. Recurrent pregnancy loss is an important reproductive health issue, affecting 2-5% of couples. The prevalence of infertility is between 7-15%. Among all causes of RPL and infertility, there is evidence to suggest contribution of genetic factors. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and problems come with multifactorial inheritance. Some genetic factors influence males or females specifically, and others bring about both males and females affect fetuses. Several studies have been done in the field of reproductive genetic specifically in RPL and infertility considering both prevention and treatment in Yazd Abortion Research Center of Reproductive Sciences Institute. Evaluation of chromosomal abnormalities was performed in this center since 2001, perinatal diagnosis (PND) since 2013 and preimplantation genetic diagnosis (PGD) since 2015.Single genes mutation or polymorphisms were evaluated in some studies according to previous evidence of genetic problems in RPL or RIF. Fifteen years experience in this center were indicated that the frequency of the structural and numerical abnormalities in patients referring to this center are similar the other countries. Monogenic problem, in female with thrombophilia and male with AZF microdeletions indicated that they are the most important known causes. Fortunately, treatment with aspirin or aspirin plus heparin and hormonal therapy with PND or PGS were successfully raised normal child birth to 80% of RPL cases. Frequency of the chromosomal abnormalities and the single-gene disorders in RPL and infertility or RIF, strongly suggested genetic counseling for success treatment.