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Objective. The main objective of this paper is to present for the first time results of prenatal diagnosis, the incidence of chromosomal aberrations, in the General Hospital Uzice, with special reference to trisomy 21. Methods. This study included a group of 749 pregnant women who underwent invasive prenatal diagnosis using amniocentesis between September 2006th to the August 2013th at the Department of Gynecology and Obstetrics. The total number of delivered women during the same time period was 12 447. Karyotype analysis of in vitro cultured fetal cells was performed using standard techniques on Cytogenetic Department, Clinical Center Kragujevac. All collected data were analyzed and even acknowledge the graphic. Results. Cytogenetic analysis revealed 29 fetal chromosomal abnormalities (3,9%). From the total number of chromosomal aberrations was revealed 14 unbalanced chromosomal rearrangements (48%) and 15 balanced chromosomal aberrations (52%). The seven trisomy of chromosome 21, one triploidy, one deletion, one duplication, two mosaic trisomies, two numerical aberrations of sex chromosomes were detected. The balanced chromosomal rearrangements revealed 15 inversion of chromosome 9. Trisomy 21 makes 24% of all total chromosomal aberrations and 50% of unbalanced rearrangmants. The incidence of Down syndrome prenatally dijagnostifi kovanog is one of 107 amnion. |
