Özet:

In this study, 141 amniocentesis, 9 chorionic villus and 5 fetal blood samples, which come with abnormal ultrasonography findings representing 8 years of experience in Trakya University Medical Faculty Hospital, were analyzed cytogenetically. Our aim is to determine the correlation of karyotypic abnormalities detected by ultrasonography for the detection of fetal anomalies in prenatal diagnosis.Karyotypes in metaphases obtained from amniocentesis, chorionic villus and cordocentesis samples were evaluated. For rapid diagnosis, fluorescent in situ hybridization was performed in the interphase nuclei specific to X, Y, 13,18, 21 chromosomes. Chromosome anomalies were found in 23 (14.83%) out of 155 patients referred with abnormal ultrasound findings. NT increase is the most common abnormal fetal ultrasonography finding. Two of the chromosomal anomalies were evaluated as structural chromosome analysis. Anomalies detected in the remaining 21 patients were numerical chromosome anomalies. Of these 21 numerical anomalies, 5 are trisomy 13, 3 are trisomy 18, 13 are trisomy 21. One of the 21 trisomy cases was obtained from cordocentesis material and 1 was obtained from CVS material. Our results present that the relationship between fetal chromosomal anomalies and ultrasonographic findings is significant in a high-risk population, while verifying the validity of selected ultrasonographic markers in detecting aneuploidy in the fetus.

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