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

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

Author information

1
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.

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.

PMID:
21699408
DOI:
10.1089/gtmb.2010.0171
[Indexed for MEDLINE]

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