The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women

Genet Test Mol Biomarkers. 2011 Oct;15(10):701-7. doi: 10.1089/gtmb.2010.0171. Epub 2011 Jun 23.

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.

Publication types

  • Evaluation Study

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Aberrations*
  • Cytogenetic Analysis / methods*
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Reproducibility of Results
  • Serum / metabolism
  • Turkey
  • Young Adult