Evaluation of chromosomal variants considered polymorphic variants in couples with recurrent pregnancy loss

Abortus is the spontaneous excretion of the embryo from the uterus before the 20th week of pregnancy. Recurrent pregnancy loss (RPL) is two or more consecutive pregnancies resulting in abortion. Approximately 10 -15% of first trimester pregnancies in the general population result in spontaneous abortion. And recurrent pregnancy loss occurs 1-2% frequently. Generally, there are 2 to 5% genetic causes in the etiology of RPL. It has been reported that chromosomal anomalies are responsible for 60% of first trimester RPL, 10-15% of second trimester RPL and 5% of third trimester stillbirths. In our study with retrospective case screening and healthy control group; the aim was to evaluate the cytogenetic analysis of individuals who admitted to Afyon Kocatepe University Medical Faculty Medical Genetics Department between 2007-2017. 1688 cases with two or more recurrent pregnancies were evaluated with clinical and cytogenetic data. Cytogenetic analysis results of 40 pairs with no familial disease, no consanguineous marriages, healthy children and no history of miscarriage and / or stillbirth were also evaluated. It was observed that 488 individuals (28.9%) had polymorphic chromosome variants in the case group and 13 (16.2%) patients in the control group. When our results were analyzed, it was determined that recurrent pregnancy loss and chromosomal polymorphisms were found to be correlated. Karyotype analysis for couples with recurrent pregnancy loss will guide the prognosis of subsequent pregnancies of couples.