Fetal, maternal and paternal cytogenetic analysis in first trimester spontaneous miscarriages

ABSTRACT Fetal, Maternal and Paternal Cytogenetic Analysis in First Trimester Spontaneous Miscarriages In this study, we aimed to determine the role of cytogenetic factors in recurrent miscarriages. Therefore, 31 mothers having two and more spontaneous abortions, accepted to this study and cytogenetic analysis was performed to fetal tissue or chorionic villus from their last abortion. We used the long term culture method for the tissue culture. In addition to this, for ctyogenetic analysis of the parents of abortions, we used blood culture method. Thus, a total number of 93 materials were cytogenetically studied. Our culture succes rate, was 77.5% (31/40). 58% of abortuses that could be karyotyped were abnormal; 66.6% of these were numerical aberrations, and %33.3 were structural. A total number of 12 numerical aberrations, 5 of which (42%) were trisomic, 4 (33%) were polyploid, 3 (25%) were monosomic. Structural aberration were found in 19.3% of all cases. In our study, the mean maternal age of total cases was 26.3+6.2, of normal cases was 27.8+6.5 and of abnormal cases was 25.3±5.5. The mean maternal age of trisomic and monosomic cases were 25.8 and 24, respectively. The mean number of miscarriges was 3.4+2.0 (range 2-11). For normal and abnormal cases, the mean number of miscarrieges was 3.8+2.2 and 3.0+1.7 consecutively. For total cases, the mean gestational age was 9.5+3.5 (week). For normal and abnormal cases, the mean gestational age was 8.2+3.3 and 10.5+3.1 consecutively. Of the 31 abortuses that could be karyotyped, 45.2% (14) were male and 54.8% (17) were female. Ten of the 14 male cases (71.4%) had an abnormal karyotype. In addition, 31 couples were karyotyped. Among 31 couples, 4 chromosome abnormalities were detected. The overall chromosome aberration frequency was 13% per couples (6.5% per individual). Our results are generally in harmony with literature findings. We think that our results are important from point of genetic counseling and understanding of etiology of abortions. Key words: Spontaneous abortion, Cell culture, Chromosomal abnormalities, Cytogenetic analysis, Karyotyping. IX