The Role of Chromosome Analysis in Patients with Recurrent Pregnancy Loss

Abstract

Purpose: Recurrent pregnancy loss (RPL) is called as loss of two or more clinically defined pregnancies. The causes of RPL include chromosomal abnormalities, endocrinological disorders, autoimmune problems, uterine anomalies, and thrombophilic factors. In this study, we aimed to discuss the results of chromosomal analysis of couples who had experienced RPL in central Anatolia and their relationship with RPL. Materials and Methods: A total of 1420 subjects, 721 females and 699 males with two or more RPL, were included in the study. Chromosome analysis was performed using standard cytogenetic GTG banding technique using peripheral blood lymphocytes. All chromosomes were examined for numerical and structural chromosomal abnormalities. Results: Normal chromosome formation,46, XX in 698 people and 46, XY in 680 people, was detected in a total of 1378 people (97%). Normal chromosome variant was detected in 15 patients (1%), most commonly 46,XX,9qh+ (0.28%) in 4 patients and 46,XY,9qh+ (0.21%) in 3 patients. In addition, 12 patients had balance reciprocal translocation (0.8%), 6 patients had robertsonian translocation (0.4%), 45,XX,rob (13;14) (q10;q10) in 4 patients, and 45,XY,rob(13;14)(q10;q10) in 2 patients. Conclusion: In this study, chromosomal translocations were the most important cause of RPL in the chromosomal analysis of the parents (n=18; 1.2%). Approximately 2% of individuals with RPL have numerical and structural chromosomal abnormalities such as reciprocal or robertsonian translocations, inversions, and sex chromosomal abnormalities. In order to have healthy babies, preimplantation genetic diagnostic tests should be recommended to the patients by obstetricians, medical geneticists and clinical embryologists who are involved in reproductive medicine.