Cytogenetic Investigation of Patients with Infertility, Recurrent Abortions, and Unsuccessful Assisted Reproductive Technologies (ARTs) Referred to Sarem Women's Hospital in Tehran Between 2006 and 2017

Background and Objective: Infertility is a major health problem affecting 10-15% of couples globally. Genetic factors such as chromosomal abnormalities are one of the major causes of infertility and spontaneous abortions. The aim of this study was to establish the chromosome abnormality and chromosomal variants' rate amongst couples referred for reasons of infertility and subfertility to the Cytogenetics laboratory of Sarem Women’s hospital in Tehran between 2006 and 2017. Material and methods: In this study, a total number of 6514 patients were referred for chromosomal investigation. The mean age of referral female and male patients were 30 and 34 years, respectively. Referral reasons included infertility, recurrent abortions, and unsuccessful Assisted Reproductive Technologies (ARTs). Heparinized peripheral blood was obtained. Cytogenetic investigation was carried out using standard techniques. GTG high resolution banding technique was used and 20-50 metaphase spreads were studied. CBG, NOR banding, and FISH investigation were carried out if necessary. Results: The overall chromosome abnormality rate was 5.28 percent (344 out of 6514). The cytogenetic results for these referral couples are as follows: 66 (19.1%) patients had a numerical chromosome abnormality including sex chromosomes and marker chromosomes. 120 (34.9%) patients had structural chromosome abnormalities. 158 (46%) patients had mosaicism with different cell lines.70 (1.07%) patients had an inversion of chromosome 9. Discussion and Conclusion: Cytogenetic investigation in patients with infertility and subfertility is critical as a first line genetic investigation. The findings of chromosome abnormality are of great value in the better management of the patients.