Cell-Free DNA Analysis for Trisomy Risk Assessment in First-Trimester Twin Pregnancies
Objective: To examine the clinical implementation of chromosome-selective sequencing of cell-free DNA (cfDNA) in maternal blood and an algorithm that relies on the lower fetal fraction contribution of the 2 fetuses in the assessment of risk for trisomies in twin pregnancies. Methods: Risk for trisom...
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| Veröffentlicht in: | Fetal diagnosis and therapy 2014-06, Vol.35 (3), p.204-211 |
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| creator | Gil, M.M. Quezada, Maria Soledad Bregant, Barbara Syngelaki, Argyro Nicolaides, Kypros H. |
| description | Objective: To examine the clinical implementation of chromosome-selective sequencing of cell-free DNA (cfDNA) in maternal blood and an algorithm that relies on the lower fetal fraction contribution of the 2 fetuses in the assessment of risk for trisomies in twin pregnancies. Methods: Risk for trisomies 21, 18 and 13 by cfDNA testing were estimated in stored plasma samples obtained at 11-13 weeks' gestation from 207 pregnancies with known outcome and prospectively in 68 twin pregnancies undergoing screening at 10-13 weeks. Results: Risk scores for trisomies were provided for 192 (92.8%) of stored plasma and for 63 (92.6%) of the prospective cases. In the retrospective study, 10 of 11 trisomic pregnancies were correctly identified with no false positive results. In the prospective study, 3 trisomic pregnancies were correctly identified with no false positive results. The median of the lower fetal fraction in the prospective study of twins was 7.4% (IQR range 5.9-10.0%), which was lower than in our previous study in singletons (median 10.0%, IQR 7.8-13.0%). Conclusions: cfDNA testing in twins is feasible but the reporting rate of results is lower than in singletons due to a lower fetal fraction. |
| doi_str_mv | 10.1159/000356495 |
| format | Article |
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Methods: Risk for trisomies 21, 18 and 13 by cfDNA testing were estimated in stored plasma samples obtained at 11-13 weeks' gestation from 207 pregnancies with known outcome and prospectively in 68 twin pregnancies undergoing screening at 10-13 weeks. Results: Risk scores for trisomies were provided for 192 (92.8%) of stored plasma and for 63 (92.6%) of the prospective cases. In the retrospective study, 10 of 11 trisomic pregnancies were correctly identified with no false positive results. In the prospective study, 3 trisomic pregnancies were correctly identified with no false positive results. The median of the lower fetal fraction in the prospective study of twins was 7.4% (IQR range 5.9-10.0%), which was lower than in our previous study in singletons (median 10.0%, IQR 7.8-13.0%). Conclusions: cfDNA testing in twins is feasible but the reporting rate of results is lower than in singletons due to a lower fetal fraction.</description><identifier>ISSN: 1015-3837</identifier><identifier>ISBN: 9783318026924</identifier><identifier>ISBN: 3318026921</identifier><identifier>EISSN: 1421-9964</identifier><identifier>EISBN: 331802693X</identifier><identifier>EISBN: 9783318026931</identifier><identifier>DOI: 10.1159/000356495</identifier><identifier>PMID: 24247435</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Adult ; Cell-Free System - physiology ; DNA - genetics ; Female ; Humans ; Maternal Serum Screening Tests - methods ; Middle Aged ; Original Paper ; Pregnancy ; Pregnancy Trimester, First - genetics ; Pregnancy, Twin - genetics ; Prenatal Diagnosis - methods ; Prospective Studies ; Retrospective Studies ; Risk Assessment ; Trisomy - genetics</subject><ispartof>Fetal diagnosis and therapy, 2014-06, Vol.35 (3), p.204-211</ispartof><rights>2013 S. Karger AG, Basel</rights><rights>2013 S. Karger AG, Basel.</rights><rights>Copyright (c) 2014 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c501t-c820f41eb5e0f051895aba8ea4123f90ed914c2466587e342458898f4fd42c763</citedby><cites>FETCH-LOGICAL-c501t-c820f41eb5e0f051895aba8ea4123f90ed914c2466587e342458898f4fd42c763</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,2429,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24247435$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gil, M.M.</creatorcontrib><creatorcontrib>Quezada, Maria Soledad</creatorcontrib><creatorcontrib>Bregant, Barbara</creatorcontrib><creatorcontrib>Syngelaki, Argyro</creatorcontrib><creatorcontrib>Nicolaides, Kypros H.</creatorcontrib><title>Cell-Free DNA Analysis for Trisomy Risk Assessment in First-Trimester Twin Pregnancies</title><title>Fetal diagnosis and therapy</title><addtitle>Fetal Diagn Ther</addtitle><description>Objective: To examine the clinical implementation of chromosome-selective sequencing of cell-free DNA (cfDNA) in maternal blood and an algorithm that relies on the lower fetal fraction contribution of the 2 fetuses in the assessment of risk for trisomies in twin pregnancies. Methods: Risk for trisomies 21, 18 and 13 by cfDNA testing were estimated in stored plasma samples obtained at 11-13 weeks' gestation from 207 pregnancies with known outcome and prospectively in 68 twin pregnancies undergoing screening at 10-13 weeks. Results: Risk scores for trisomies were provided for 192 (92.8%) of stored plasma and for 63 (92.6%) of the prospective cases. In the retrospective study, 10 of 11 trisomic pregnancies were correctly identified with no false positive results. In the prospective study, 3 trisomic pregnancies were correctly identified with no false positive results. The median of the lower fetal fraction in the prospective study of twins was 7.4% (IQR range 5.9-10.0%), which was lower than in our previous study in singletons (median 10.0%, IQR 7.8-13.0%). Conclusions: cfDNA testing in twins is feasible but the reporting rate of results is lower than in singletons due to a lower fetal fraction.</description><subject>Adult</subject><subject>Cell-Free System - physiology</subject><subject>DNA - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>Maternal Serum Screening Tests - methods</subject><subject>Middle Aged</subject><subject>Original Paper</subject><subject>Pregnancy</subject><subject>Pregnancy Trimester, First - genetics</subject><subject>Pregnancy, Twin - genetics</subject><subject>Prenatal Diagnosis - methods</subject><subject>Prospective Studies</subject><subject>Retrospective Studies</subject><subject>Risk Assessment</subject><subject>Trisomy - genetics</subject><issn>1015-3837</issn><issn>1421-9964</issn><isbn>9783318026924</isbn><isbn>3318026921</isbn><isbn>331802693X</isbn><isbn>9783318026931</isbn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>M--</sourceid><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqN0T1PIzEQBmBzgI6Po6BHaCUaKBY8_nYZBQJICBACdN3K2cyihewueBKh_HscJaSguass2Y_H43kZ2wd-CqD9GedcaqO8XmM7UoLjwnj59xfbBiUg996odbbnrfs-E2ojnXHQuXTSbrEdotdUw1lpfrMtoYSySupt9tzH8TgfRMTs_LaX9downlFNWdXF7DHW1DWz7KGmt6xHhEQNtpOsbrNBHWmSJ9AgTTDRz7R5H_GlDW1ZI_1hm1UYE-4t1132NLh47F_lN3eX1_3eTV5qDpO8dIJXCnCokVdcg_M6DIPDoEDIynMceVClUMZoZ1GmrrVz3lWqGilRWiN32fGi7nvsPqapl6KpqUxfCi12UyrAc7Ca81Tun1SbxLww7j9oykKC5JDo0Q_62k1jmuJcKeus0Hb-9slClbEjilgV72l0Ic4K4MU832KVb7KHy4rTYYOjlfzOLIGDBXgL8QXjCizvfwG5nqA6</recordid><startdate>20140601</startdate><enddate>20140601</enddate><creator>Gil, M.M.</creator><creator>Quezada, Maria Soledad</creator><creator>Bregant, Barbara</creator><creator>Syngelaki, Argyro</creator><creator>Nicolaides, Kypros H.</creator><general>S. Karger AG</general><scope>M--</scope><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>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>7TM</scope></search><sort><creationdate>20140601</creationdate><title>Cell-Free DNA Analysis for Trisomy Risk Assessment in First-Trimester Twin Pregnancies</title><author>Gil, M.M. ; Quezada, Maria Soledad ; Bregant, Barbara ; Syngelaki, Argyro ; Nicolaides, Kypros H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c501t-c820f41eb5e0f051895aba8ea4123f90ed914c2466587e342458898f4fd42c763</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adult</topic><topic>Cell-Free System - physiology</topic><topic>DNA - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>Maternal Serum Screening Tests - methods</topic><topic>Middle Aged</topic><topic>Original Paper</topic><topic>Pregnancy</topic><topic>Pregnancy Trimester, First - genetics</topic><topic>Pregnancy, Twin - genetics</topic><topic>Prenatal Diagnosis - methods</topic><topic>Prospective Studies</topic><topic>Retrospective Studies</topic><topic>Risk Assessment</topic><topic>Trisomy - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gil, M.M.</creatorcontrib><creatorcontrib>Quezada, Maria Soledad</creatorcontrib><creatorcontrib>Bregant, Barbara</creatorcontrib><creatorcontrib>Syngelaki, Argyro</creatorcontrib><creatorcontrib>Nicolaides, Kypros H.</creatorcontrib><collection>Karger Open Access Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>Nucleic Acids Abstracts</collection><jtitle>Fetal diagnosis and therapy</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gil, M.M.</au><au>Quezada, Maria Soledad</au><au>Bregant, Barbara</au><au>Syngelaki, Argyro</au><au>Nicolaides, Kypros H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cell-Free DNA Analysis for Trisomy Risk Assessment in First-Trimester Twin Pregnancies</atitle><jtitle>Fetal diagnosis and therapy</jtitle><addtitle>Fetal Diagn Ther</addtitle><date>2014-06-01</date><risdate>2014</risdate><volume>35</volume><issue>3</issue><spage>204</spage><epage>211</epage><pages>204-211</pages><issn>1015-3837</issn><eissn>1421-9964</eissn><isbn>9783318026924</isbn><isbn>3318026921</isbn><eisbn>331802693X</eisbn><eisbn>9783318026931</eisbn><abstract>Objective: To examine the clinical implementation of chromosome-selective sequencing of cell-free DNA (cfDNA) in maternal blood and an algorithm that relies on the lower fetal fraction contribution of the 2 fetuses in the assessment of risk for trisomies in twin pregnancies. Methods: Risk for trisomies 21, 18 and 13 by cfDNA testing were estimated in stored plasma samples obtained at 11-13 weeks' gestation from 207 pregnancies with known outcome and prospectively in 68 twin pregnancies undergoing screening at 10-13 weeks. Results: Risk scores for trisomies were provided for 192 (92.8%) of stored plasma and for 63 (92.6%) of the prospective cases. In the retrospective study, 10 of 11 trisomic pregnancies were correctly identified with no false positive results. In the prospective study, 3 trisomic pregnancies were correctly identified with no false positive results. The median of the lower fetal fraction in the prospective study of twins was 7.4% (IQR range 5.9-10.0%), which was lower than in our previous study in singletons (median 10.0%, IQR 7.8-13.0%). Conclusions: cfDNA testing in twins is feasible but the reporting rate of results is lower than in singletons due to a lower fetal fraction.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>24247435</pmid><doi>10.1159/000356495</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Fetal diagnosis and therapy, 2014-06, Vol.35 (3), p.204-211 |
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| source | Karger Journal Archive Collection; MEDLINE; Karger Journals; Alma/SFX Local Collection |
| subjects | Adult Cell-Free System - physiology DNA - genetics Female Humans Maternal Serum Screening Tests - methods Middle Aged Original Paper Pregnancy Pregnancy Trimester, First - genetics Pregnancy, Twin - genetics Prenatal Diagnosis - methods Prospective Studies Retrospective Studies Risk Assessment Trisomy - genetics |
| title | Cell-Free DNA Analysis for Trisomy Risk Assessment in First-Trimester Twin Pregnancies |
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