GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.15, no.10, pp.701-707, 2011 (SCI-Expanded)
Aim: The purpose of this article was to evaluate the reliability of maternal serum triple marker screening of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol for the prenatal diagnosis of fetal chromosomal abnormalities in Turkish pregnant women. Method: Medical records were used to analyze indications of amniocentesis and quantitative fluorescent-polymerase chain reaction. Anomaly screening was performed for all patients between 13 and 22 weeks of pregnancy. A total of 1725 pregnancies with chromosomal abnormality risk according to triple test screening were accepted for fetal chromosome analysis and quantitative fluorescent-polymerase chain reaction. Results: Chromosomal aberrations were observed in 56 (3.2%) cases. About 44.6% of the abnormalities detected were numerical aberrations; however, 55.3% of the abnormalities were structural aberrations. Abnormalities detected were inversion of chromosome 9 in 20 cases, trisomy 21 in 14 cases, 46,XX/47,XX, + 21 in 1 case, trisomy 18 in 2 cases, trisomy 13 in 1 case, 47,XXY, in 1 case, 45, X, in 1 case, structural abnormalities in 12 cases, and mosaic or tetraploidy in 6 cases. Conclusion: Second trimester triple test is an effective screening tool for detecting fetal Down syndrome in Turkish women.