Prenatal genetic diagnostic test outcomes in van province and nearby cities in eastern turkey

Abstract

Aim: The aim of this study is to retrospectively evaluate the indications and karyotype results of amniocentesis and chorion villus sampling performed in Health Sciences University, Van Education and Research Hospital, Department of Perinatology. Material and Methods: In this study, 157 patients who underwent amniocentesis and 58 patients who performed chorion villus sampling procedure for different indications in our perinatology clinic between March 2017 and March 2019 were evaluated retrospectively. A spinal needle of 22-Gauge for amniocentesis procedure and a 20-Gauge spinal needle for chorionic villus sampling were used. Results: Genetic abnormality was detected in 14.6% of amniocentesis (n=23) and 34.5% of chorion villus sampling cases (n=20). Twenty (87.0%) of the chromosomal anomalies detected in amniocentesis and 18 (90.0%) of the anomalies detected in chorionic villus sampling were numerical anomalies. The most common chromosomal anomaly of these numerical anomalies was trisomy 21. The most common indication for patients who underwent amniocentesis and chorionic villus sampling was abnormal ultrasound findings, followed by high risk in triple or quadruple test. Conclusion: Amniocentesis and chorion villus sampling are commonly performed invasive tests for prenatal diagnosis of genetic diseases. The indications of amniocentesis and chorion villus sampling procedures and the rate of genetic anomaly detected as a result of genetic analysis applied to these samples in our clinic were compatible with literature. It is thought that this study will contribute to the literature since this is the first study that evaluates the results of amniocentesis and chorion villus sampling in Van and nearby cities. © 2020, Duzce University Medical School. All rights reserved.