Comparison between results of our chromosome analysis and prediagnosis indication in patients who referred our laboratory for prenatal diagnosis

SUMMARY Comparision Between Results Of Our Chromosome Analysis and Prediagnosis Indication in Patients who Referred our Laboratory for Prenatal Diagnosis. Araş.Gör.Ayşegül Tfirkyılmaz In this study we evaluated total of 481 CVS,AS and CS specimens from patients who referred to the Prenatal Diagnostic Laboratory of Department of Medical Biology and Genetics Department of Medical Faculty of University of Dicle during period of 01.01.1999 to 31.12.2001. Lymphocyte Culture prepared in duplicate for each specimen and chromosome were obtained from total of ten slides for each specimen. For staining one in ten slides was stained with direct Giemsa staining method and others were stained with Giemsa Banding Technic ( GTG Banding ). Total (10x481) 4810 slides were evaluated for diagnosis. A total of 40 specimens were cytogenetically abnormal of which 1 1 were trisomy 21 ( Down Syndrome), two were combination of trisomy and Robertsonian type of translocation, one was mosaic Down Syndrome, one was balanced translocated chromosome carrier, two were Turner Syndrome, two were mosaic Turner Syndrome, one was triple X syndrome, two were triploidy, one was partial trisomy, one was derivative chromosome, 12 were duplication, two were deletion, one was nonrepetitive numerical and structural abnormality and one was marker chromosome. None false positive and false negative results were obtained in our study. KEY WORDS: Prenatal Diagnosis, Chromosome Analysis, Chromosomal Abnormality.