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 |
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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 |
format | Article |
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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.
Second trimester triple test is an effective screening tool for detecting fetal Down syndrome in Turkish women.</description><identifier>ISSN: 1945-0265</identifier><identifier>EISSN: 1945-0257</identifier><identifier>DOI: 10.1089/gtmb.2010.0171</identifier><identifier>PMID: 21699408</identifier><language>eng</language><publisher>United States: Mary Ann Liebert, Inc</publisher><subject>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</subject><ispartof>Genetic testing and molecular biomarkers, 2011-10, Vol.15 (10), p.701-707</ispartof><rights>COPYRIGHT 2011 Mary Ann Liebert, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c393t-7d292386b923b5a2c93b136c0049551fd9acd28787d0a29ff06a3e40dac93fb33</citedby><cites>FETCH-LOGICAL-c393t-7d292386b923b5a2c93b136c0049551fd9acd28787d0a29ff06a3e40dac93fb33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21699408$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Demirhan, Osman</creatorcontrib><creatorcontrib>Pazarbaşı, Ayfer</creatorcontrib><creatorcontrib>Güzel, Ali İrfan</creatorcontrib><creatorcontrib>Taştemir, Deniz</creatorcontrib><creatorcontrib>Yilmaz, Bertan</creatorcontrib><creatorcontrib>Kasap, Mülkiye</creatorcontrib><creatorcontrib>Özgünen, Fatma Tuncay</creatorcontrib><creatorcontrib>Evrüke, Cüneyt</creatorcontrib><creatorcontrib>Demir, Cansun</creatorcontrib><creatorcontrib>Tunç, Erdal</creatorcontrib><creatorcontrib>Kocatürk-Sel, Sabriye</creatorcontrib><creatorcontrib>Onatoğlu-Arikan, Dilge</creatorcontrib><creatorcontrib>Koç, Semra</creatorcontrib><creatorcontrib>Özer, Onur</creatorcontrib><creatorcontrib>İnandiklioğlu, Nihal</creatorcontrib><title>The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women</title><title>Genetic testing and molecular biomarkers</title><addtitle>Genet Test Mol Biomarkers</addtitle><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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Chromosome Aberrations</subject><subject>Cytogenetic Analysis - methods</subject><subject>Down syndrome</subject><subject>Female</subject><subject>Fetal Diseases - diagnosis</subject><subject>Fetal Diseases - genetics</subject><subject>Health aspects</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical tests</subject><subject>Pregnancy</subject><subject>Pregnant women</subject><subject>Prenatal Diagnosis - methods</subject><subject>Reproducibility of Results</subject><subject>Risk factors</subject><subject>Serum - metabolism</subject><subject>Turkey</subject><subject>Young Adult</subject><issn>1945-0265</issn><issn>1945-0257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1rHSEUxaW0NF_ddhmELrJ6L36MM-MyhDYJBLJ5XYvjXN-zGfVFHUJ2-dPrJGlWgSLo8fo7lysHoe-UrCnp5fm2-GHNSL0S2tFP6JDKRqwIE93nd92KA3SU8x9C2ob37Vd0wGgrZUP6Q_S82QFOMDk9uMmVJxwt9rpACnrCGdLscUluPwEukAt2Ae8TBF3q6-j0NsTs8uKxsJTMLkUfc_RV6yHEVIUrDl6QatwGHQrezOne5R1-jB7CCfpi9ZTh29t5jH7_-rm5vF7d3l3dXF7crgyXvKy6kUlWhx_qPgjNjOQD5a0hpJFCUDtKbUbWd303Es2ktaTVHBoy6kragfNjdPbad5_iw1z_orzLBqZJB4hzVlI0raCy7f9L9rIXRJJGVPLHK7nVEygXbCxJm4VWF6wjvBMdX6j1B1RdI3hnYgDrav0jg0kx5wRW7ZPzOj0pStSSulpSV0vqakm9Gk7fJp4HD-M7_i9m_hcdCqll</recordid><startdate>201110</startdate><enddate>201110</enddate><creator>Demirhan, Osman</creator><creator>Pazarbaşı, Ayfer</creator><creator>Güzel, Ali İrfan</creator><creator>Taştemir, Deniz</creator><creator>Yilmaz, Bertan</creator><creator>Kasap, Mülkiye</creator><creator>Özgünen, Fatma Tuncay</creator><creator>Evrüke, Cüneyt</creator><creator>Demir, Cansun</creator><creator>Tunç, Erdal</creator><creator>Kocatürk-Sel, Sabriye</creator><creator>Onatoğlu-Arikan, Dilge</creator><creator>Koç, Semra</creator><creator>Özer, Onur</creator><creator>İnandiklioğlu, Nihal</creator><general>Mary Ann Liebert, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201110</creationdate><title>The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c393t-7d292386b923b5a2c93b136c0049551fd9acd28787d0a29ff06a3e40dac93fb33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Chromosome Aberrations</topic><topic>Cytogenetic Analysis - methods</topic><topic>Down syndrome</topic><topic>Female</topic><topic>Fetal Diseases - diagnosis</topic><topic>Fetal Diseases - genetics</topic><topic>Health aspects</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical tests</topic><topic>Pregnancy</topic><topic>Pregnant women</topic><topic>Prenatal Diagnosis - methods</topic><topic>Reproducibility of Results</topic><topic>Risk factors</topic><topic>Serum - metabolism</topic><topic>Turkey</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Demirhan, Osman</creatorcontrib><creatorcontrib>Pazarbaşı, Ayfer</creatorcontrib><creatorcontrib>Güzel, Ali İrfan</creatorcontrib><creatorcontrib>Taştemir, Deniz</creatorcontrib><creatorcontrib>Yilmaz, Bertan</creatorcontrib><creatorcontrib>Kasap, Mülkiye</creatorcontrib><creatorcontrib>Özgünen, Fatma Tuncay</creatorcontrib><creatorcontrib>Evrüke, Cüneyt</creatorcontrib><creatorcontrib>Demir, Cansun</creatorcontrib><creatorcontrib>Tunç, Erdal</creatorcontrib><creatorcontrib>Kocatürk-Sel, Sabriye</creatorcontrib><creatorcontrib>Onatoğlu-Arikan, Dilge</creatorcontrib><creatorcontrib>Koç, Semra</creatorcontrib><creatorcontrib>Özer, Onur</creatorcontrib><creatorcontrib>İnandiklioğlu, Nihal</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Genetic testing and molecular biomarkers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Demirhan, Osman</au><au>Pazarbaşı, Ayfer</au><au>Güzel, Ali İrfan</au><au>Taştemir, Deniz</au><au>Yilmaz, Bertan</au><au>Kasap, Mülkiye</au><au>Özgünen, Fatma Tuncay</au><au>Evrüke, Cüneyt</au><au>Demir, Cansun</au><au>Tunç, Erdal</au><au>Kocatürk-Sel, Sabriye</au><au>Onatoğlu-Arikan, Dilge</au><au>Koç, Semra</au><au>Özer, Onur</au><au>İnandiklioğlu, Nihal</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women</atitle><jtitle>Genetic testing and molecular biomarkers</jtitle><addtitle>Genet Test Mol Biomarkers</addtitle><date>2011-10</date><risdate>2011</risdate><volume>15</volume><issue>10</issue><spage>701</spage><epage>707</epage><pages>701-707</pages><issn>1945-0265</issn><eissn>1945-0257</eissn><abstract>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.</abstract><cop>United States</cop><pub>Mary Ann Liebert, Inc</pub><pmid>21699408</pmid><doi>10.1089/gtmb.2010.0171</doi><tpages>7</tpages></addata></record> |
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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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