Journal of Clinical Obstetrics & Gynecology, cilt.29, sa.1, ss.8-16, 2019 (Scopus, TRDizin)
Objective: The present study aimed at evaluating and improving the knowledge regarding prenatal test indications by assessing the results of the invasive prenatal tests for the detection of fetal chromosomal anomalies conducted in our tertiary center. Material and Methods: Aretrospective study was conducted to collect the results of prenatal invasive procedures performedin our tertiary center between January 2002-September 2017. The types and prevalence of fetalchromosomal anomalies were identified and the efficiency of the invasive procedure indications inpredicting these fetal chromosomal anomalies was investigated. Results: The results of 2136 invasive procedures (2014 amniocentesis, 80 cordocentesis, and 42 chorion villus samplings) revealed101 (4.72%) fetal chromosomal anomalies and 128 (5.99%) chromosomal polymorphisms. The mostcommon chromosomal anomaly observed was trisomy 21 (n=52), followed by trisomy 18 (n=12). Interms of diagnosis of the fetal chromosomal anomalies, the following observations were made: theindication “major structural anomaly in the ultrasound (USG)” exhibited 31.68% sensitivity and82.03% specificity with an odds ratio (OR) of 2.11 (95% CI: 1.37-3.27); the indication “screening testpositivity” exhibited 44.55% sensitivity and 48.25% specificity [OR=0.75 (95% CI: 0.50-1.13)]; andthe co-existence of “major structural anomaly in the USG” and “screening test positivity” exhibited8.91% sensitivity and 98.24% specificity [OR=5.49 (95% CI: 2.54-11.84)]. Conclusion: Fetal chromosomal anomaly rate was observed to be 4.72%. The co-existence of a sonographic major fetalstructural anomaly and serum screening test positivity was observed to maximize the risk of numerical as well as a structural chromosomal anomaly. The data from the present study which reflected screening performances of detailed USG and biochemical screening tests for the detectionof fetal chromosomal anomalies may be useful for clinicians while performing detailed counselingof patients.