The Reliability of Maternal Serum Triple Test in Prenatal Diagnosis of Fetal Chromosomal Abnormalities of Pregnant Turkish Women

DEMİRHAN O., PAZARBAŞI A., GÜZEL A. İ., Tastemir D., Yilmaz B., KASAP M., ...More

GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.15, no.10, pp.701-707, 2011 (SCI-Expanded) identifier identifier identifier


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.