Evaluation of prediagnosis indication and analysis result appropriatenesses in patients who referred our laboratory for chromosomal analysis

XI SUMMARY Evaluation of Prediagnosis Indication and Analysis Result Appropriatenesses in Patients who Referred Our Laboratory for Chromosomal Analysis Araş.Gör. Hilmi İSİ Our aim in this study were to determine our laboratory chromosomal analysis results success level and to compare this level with patient prediagnosis indication and to confirm with clinicians prediagnosis approach. Peripheral blood were taken from patients who referred to our laboratory then performed with lenfosit culture and chromosomes stained by G-Banding methods (GTG) and karyotyped for numerical and structural chromosome abberations then results were evaluated. During 5 year period (1997-2001) 1650 patients were referred to Cytogenetics Laboratory. 1452 of 1650 patients were found to to have diagnosed with correct chromosomal analysis indications. This represented 88 % of the correction of Chromosome Analysis indications. The patients who does not to have chromosomal analysis but prediagnosed and referred to genetics laboratory for chromosomal analysis were 198. This represent 12 % of all patients. 3 of these198 patients were found to have chromosomal abnormality 2 in 15 (13.3 %) of cardiovascular diseases patiens group and 1 in 10 (10 %) of muscular diseases patient group. In metabolic diseases, deafness and ear malformations, endocrin diseases, gastrointestinal diseases, blood diseases, oftalmic diseases, dermatologic diseases, neurologic diseases and genetics counselling family group patients showed no any chromosomal aberrations. Chromosomal abberations rate were 1,5 % in group which no chromosome analysis needed but referred to laboratory for chromosome analysis. Chromosomal analysis done for 1452 patients who need to have chromosome analysis according to their prediagnosis. 204 (14%) of these were found to have chromosomal abnormality. Abnormality by group were as below: 2.17% in patient whose family have spontaneous abortion history, 0.97% in family which faces neonatal death, 1.4% in family who have spontaneous abortion and stillbirth history, 62.2XII % in cases with one of chromosomal abberations prediagnosis group, 3.1% prediagnosed as an infertile group, 0% in azospermic male and 6.1% in cases prediagnosed with primer and seconder amenore by gynecologist or cases without any prediagnosed group, 6.1% in dysmorphic patients group, 2% in patients with bone displasia, 3.9% in genito urinary patients group, 26% in neoplastic patients, 5.7% in mental retardation group and 2.8 % in developmental delay group patients have been detected with chromosomal abnormality. 31 % patients with chronic myeloid leukemia showed phyladelphia chromosome positive Ph (+) result in our study. Key Words: Chromosomal Disorders, Congenital Abnormalities, Dysmorphic Syndromes, Chromosome Analysis, Congenital malformations, Syndromes, Cytogenetic Study