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

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. Medical records were used to ana...

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Veröffentlicht in:Genetic testing and molecular biomarkers 2011-10, Vol.15 (10), p.701-707
Hauptverfasser: Demirhan, Osman, Pazarbaşı, Ayfer, Güzel, Ali İrfan, Taştemir, Deniz, Yilmaz, Bertan, Kasap, Mülkiye, Özgünen, Fatma Tuncay, Evrüke, Cüneyt, Demir, Cansun, Tunç, Erdal, Kocatürk-Sel, Sabriye, Onatoğlu-Arikan, Dilge, Koç, Semra, Özer, Onur, İnandiklioğlu, Nihal
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container_end_page 707
container_issue 10
container_start_page 701
container_title Genetic testing and molecular biomarkers
container_volume 15
creator Demirhan, Osman
Pazarbaşı, Ayfer
Güzel, Ali İrfan
Taştemir, Deniz
Yilmaz, Bertan
Kasap, Mülkiye
Özgünen, Fatma Tuncay
Evrüke, Cüneyt
Demir, Cansun
Tunç, Erdal
Kocatürk-Sel, Sabriye
Onatoğlu-Arikan, Dilge
Koç, Semra
Özer, Onur
İnandiklioğlu, Nihal
description 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. 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. 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. Second trimester triple test is an effective screening tool for detecting fetal Down syndrome in Turkish women.
doi_str_mv 10.1089/gtmb.2010.0171
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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. 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. 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subjects Adolescent
Adult
Chromosome Aberrations
Cytogenetic Analysis - methods
Down syndrome
Female
Fetal Diseases - diagnosis
Fetal Diseases - genetics
Health aspects
Humans
Infant, Newborn
Male
Medical tests
Pregnancy
Pregnant women
Prenatal Diagnosis - methods
Reproducibility of Results
Risk factors
Serum - metabolism
Turkey
Young Adult
title The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women
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