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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 10
  • Publication Date: 2011
  • Doi Number: 10.1089/gtmb.2010.0171
  • Title of Journal : GENETIC TESTING AND MOLECULAR BIOMARKERS
  • Page Numbers: pp.701-707

Abstract

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.