Identification of cytogenetic alterations in infertile couples experiencing repeated spontaneous abortions - using Giemsa Trypsin Giemsa banding (GTG)

The most significant complication of pregnancy is repeated spontaneous abortions. The incidence of Chromosomal Instability (CI) association is high incouple experiencing two or more recurrent miscarriages. The altered centromere functions may have an increased risk for CI and this leads to spontaneous abortion due to cell division errors. In this study we aimed to screen karyotype results in couples who were referred for infertility and also to find the rate of chromosomal abnormalities (CA) in couples with recurrent pregnancy loss. To find out this anomaly blood cultures were performed in a series of 30 women with repeated spontaneous abortions and also in their husbands. Therefore, this study was designed to identify the frequency of cytogenetic abnormalities in infertile couples. Peripheral blood cultures were set up according to standard protocols and 50 G-banded metaphases were analyzed in each case according to ISCN (1995). Numerical and structural chromosomal abnormalities (CA) were detected in infertile cases. Among 30 couples, 10 (80%) showed structural aberrations, and 2 (10%) showed numerical aberrations. In addition 2 (10%) individuals were found to have chromosome variants. Among structural abnormalities that formed the largest group of chromosomal anomalies, reciprocal translocations were seen in 4 cases (20%), which frequently involved chromosomes 4, 8, 9, 13, 14, 17, 18 and Y. Apart from these major chromosomal abnormalities, chromosome variants were found in 2 cases, which includes variations in Y chromosome. The observation in the present study shows the patients with genetic alterations may be predispose to cell division errors due to chromosome instability and thus may lead to spontaneous abortion.   Key words: Infertility, chromosomal abnormality (CA), metaphase analysis, spontaneous abortion.