Evaluation of genetic analysis results of patients with Recurrent Pregnancy Loss (RPL)

Aim: This study aims to investigate the frequencies of chromosome abnormalities in pairs with recurrent pregnancy loss (RSM). In addition, the results were compared with the previous literature in order to give a global assessment of the frequencies of chromosomal abnormalities. Methods: In this retrospective study, the pattern of chromosomal abnormalities was evaluated for all couples with RSM who were referred to the Medical Biology department, Diyarbakir, Turkey, between 2007 and 2019. Cytogenetic analysis was performed according to the standard method. Results: Among 1390 couples with RSM, the chromosomal abnormalities were identified in 5,32% of couples (74 couples), with chromosomal inversions in 4,17% (58 couples), translocations in 0.71% (10 couples), marker in 0.14% (2 couples) The mosaic karyotypes were identified in 0.14% (2 couples), polymorphic variants were observed in 40% (555 couples), and numerical aneuploidy was observed in 0.14% (2 couples). Conclusion: These findings show that chromosomal abnormalities may be one of the important reasons of RSA. This study shows that the frequency and distribution of chromosomal abnormalities between couples with RSA in Diyarbakir city and around it is close to the global frequency rate.