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    Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey
    (2020) Göktaş, Emine; Ayaz, Reyhan
    Aim: The aim of this study is to retrospectively evaluate the indications and karyotype resultsof amniocentesis and chorion villus sampling performed in Health Sciences University, VanEducation and Research Hospital, Department of Perinatology.Material and Methods: In this study, 157 patients who underwent amniocentesis and 58patients who performed chorion villus sampling procedure for different indications in ourperinatology clinic between March 2017 and March 2019 were evaluated retrospectively. Aspinal needle of 22-Gauge for amniocentesis procedure and a 20-Gauge spinal needle forchorionic villus sampling were used.Results: Genetic abnormality was detected in 14.6% of amniocentesis (n=23) and 34.5% ofchorion villus sampling cases (n=20). Twenty (87.0%) of the chromosomal anomalies detectedin amniocentesis and 18 (90.0%) of the anomalies detected in chorionic villus sampling werenumerical anomalies. The most common chromosomal anomaly of these numerical anomalieswas trisomy 21. The most common indication for patients who underwent amniocentesis andchorionic villus sampling was abnormal ultrasound findings, followed by high risk in triple orquadruple test.Conclusion: Amniocentesis and chorion villus sampling are commonly performed invasivetests for prenatal diagnosis of genetic diseases. The indications of amniocentesis and chorionvillus sampling procedures and the rate of genetic anomaly detected as a result of geneticanalysis applied to these samples in our clinic were compatible with literature. It is thoughtthat this study will contribute to the literature since this is the first study that evaluates theresults of amniocentesis and chorion villus sampling in Van and nearby cities.