Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood
Objective: To investigate potential performance of cell-free DNA (cfDNA) testing in maternal blood in detecting fetal triploidy. Methods: Plasma and buffy coat samples obtained at 11-13 weeks' gestation from singleton pregnancies with diandric triploidy (n = 4), digynic triploidy (n = 4), euplo...
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| Veröffentlicht in: | Fetal diagnosis and therapy 2014-06, Vol.35 (3), p.212-217 |
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| creator | Nicolaides, Kypros H. Syngelaki, Argyro Gil, M.M. Quezada, Maria Soledad Zinevich, Yana |
| description | Objective: To investigate potential performance of cell-free DNA (cfDNA) testing in maternal blood in detecting fetal triploidy. Methods: Plasma and buffy coat samples obtained at 11-13 weeks' gestation from singleton pregnancies with diandric triploidy (n = 4), digynic triploidy (n = 4), euploid fetuses (n = 48) were sent to Natera, Inc. (San Carlos, Calif., USA) for cfDNA testing. Multiplex polymerase chain reaction amplification of cfDNA followed by sequencing of single nucleotide polymorphic loci covering chromosomes 13, 18, 21, X, and Y was performed. Sequencing data were analyzed using the NATUS algorithm which identifies copy number for each of the five chromosomes. Results: cfDNA testing provided a result in 44 (91.7%) of the 48 euploid cases and correctly predicted the fetal sex and the presence of two copies each of chromosome 21, 18 and 13. In diandric triploidy, cfDNA testing identified multiple paternal haplotypes (indicating fetal trisomy 21, trisomy 18 and trisomy 13) suggesting the presence of either triploidy or dizygotic twins. In digynic triploidy the fetal fraction corrected for maternal weight and gestational age was below the 0.5th percentile. Conclusions: cfDNA testing by targeted sequencing and allelic ratio analysis of single nucleotide polymorphisms covering chromosomes 21, 18, 13, X, and Y can detect diandric triploidy and raise the suspicion of digynic triploidy. |
| doi_str_mv | 10.1159/000355655 |
| format | Article |
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Methods: Plasma and buffy coat samples obtained at 11-13 weeks' gestation from singleton pregnancies with diandric triploidy (n = 4), digynic triploidy (n = 4), euploid fetuses (n = 48) were sent to Natera, Inc. (San Carlos, Calif., USA) for cfDNA testing. Multiplex polymerase chain reaction amplification of cfDNA followed by sequencing of single nucleotide polymorphic loci covering chromosomes 13, 18, 21, X, and Y was performed. Sequencing data were analyzed using the NATUS algorithm which identifies copy number for each of the five chromosomes. Results: cfDNA testing provided a result in 44 (91.7%) of the 48 euploid cases and correctly predicted the fetal sex and the presence of two copies each of chromosome 21, 18 and 13. In diandric triploidy, cfDNA testing identified multiple paternal haplotypes (indicating fetal trisomy 21, trisomy 18 and trisomy 13) suggesting the presence of either triploidy or dizygotic twins. In digynic triploidy the fetal fraction corrected for maternal weight and gestational age was below the 0.5th percentile. Conclusions: cfDNA testing by targeted sequencing and allelic ratio analysis of single nucleotide polymorphisms covering chromosomes 21, 18, 13, X, and Y can detect diandric triploidy and raise the suspicion of digynic triploidy.</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: 10.1159/000355655</identifier><identifier>PMID: 24135152</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Adult ; Cell-Free System - physiology ; DNA - genetics ; Female ; Fetal Diseases - diagnosis ; Fetal Diseases - genetics ; Humans ; Male ; Maternal Serum Screening Tests - methods ; Middle Aged ; Original Paper ; Pregnancy ; Prenatal Diagnosis - methods ; Triploidy ; Young Adult</subject><ispartof>Fetal diagnosis and therapy, 2014-06, Vol.35 (3), p.212-217</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><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c433t-b634246093b6d942255ae466ff10657083677c4dc2aff4a0efe0844c76f021613</citedby><cites>FETCH-LOGICAL-c433t-b634246093b6d942255ae466ff10657083677c4dc2aff4a0efe0844c76f021613</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/24135152$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nicolaides, Kypros H.</creatorcontrib><creatorcontrib>Syngelaki, Argyro</creatorcontrib><creatorcontrib>Gil, M.M.</creatorcontrib><creatorcontrib>Quezada, Maria Soledad</creatorcontrib><creatorcontrib>Zinevich, Yana</creatorcontrib><title>Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood</title><title>Fetal diagnosis and therapy</title><addtitle>Fetal Diagn Ther</addtitle><description>Objective: To investigate potential performance of cell-free DNA (cfDNA) testing in maternal blood in detecting fetal triploidy. Methods: Plasma and buffy coat samples obtained at 11-13 weeks' gestation from singleton pregnancies with diandric triploidy (n = 4), digynic triploidy (n = 4), euploid fetuses (n = 48) were sent to Natera, Inc. (San Carlos, Calif., USA) for cfDNA testing. Multiplex polymerase chain reaction amplification of cfDNA followed by sequencing of single nucleotide polymorphic loci covering chromosomes 13, 18, 21, X, and Y was performed. Sequencing data were analyzed using the NATUS algorithm which identifies copy number for each of the five chromosomes. Results: cfDNA testing provided a result in 44 (91.7%) of the 48 euploid cases and correctly predicted the fetal sex and the presence of two copies each of chromosome 21, 18 and 13. In diandric triploidy, cfDNA testing identified multiple paternal haplotypes (indicating fetal trisomy 21, trisomy 18 and trisomy 13) suggesting the presence of either triploidy or dizygotic twins. In digynic triploidy the fetal fraction corrected for maternal weight and gestational age was below the 0.5th percentile. Conclusions: cfDNA testing by targeted sequencing and allelic ratio analysis of single nucleotide polymorphisms covering chromosomes 21, 18, 13, X, and Y can detect diandric triploidy and raise the suspicion of digynic triploidy.</description><subject>Adult</subject><subject>Cell-Free System - physiology</subject><subject>DNA - genetics</subject><subject>Female</subject><subject>Fetal Diseases - diagnosis</subject><subject>Fetal Diseases - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Maternal Serum Screening Tests - methods</subject><subject>Middle Aged</subject><subject>Original Paper</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis - methods</subject><subject>Triploidy</subject><subject>Young Adult</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>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>eNqN0ctv1DAQB2DzEn3QA3dUWeqlHFI8Hj_iY9l2AakUhBaJW-RNxlVKNl6c7KH_fR3tdg9c4GTJ88145B9jb0FcAGj3QQiBWhutn7EjRCiFNA5_PWeHoCQUzhn1gp04Wz7VpHqZawJ0gSXaA3Y0DPd5RmnRvGYHUgFq0PKQ_fieqPej7_gVjVSPbex5DHxO09Uitesuts0DDymu-Iy6rpgnIn51e8kXNIxtf8fbnn_1I6U-N3zsYmzesFfBdwOd7M5j9nN-vZh9Lm6-ffoyu7wpaoU4FkuDSiojHC5N45SUWntSxoQAwmgrSjTW1qqppQ9BeUGBRKlUbU0QEgzgMTvfzl2n-GeTt6lW7VDnHX1PcTNU4ARYjS6_8E-qjQBplbP_QVEbBLATPfuL3sfN9A-TUra0UqHM6v1W1SkOQ6JQrVO78umhAlFN2Vb7bLM93U3cLFfU7OVTXhm824LfPt1R2oNd_yOOm53e</recordid><startdate>20140601</startdate><enddate>20140601</enddate><creator>Nicolaides, Kypros H.</creator><creator>Syngelaki, Argyro</creator><creator>Gil, M.M.</creator><creator>Quezada, Maria Soledad</creator><creator>Zinevich, Yana</creator><general>S. 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Quezada, Maria Soledad ; Zinevich, Yana</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c433t-b634246093b6d942255ae466ff10657083677c4dc2aff4a0efe0844c76f021613</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>Fetal Diseases - diagnosis</topic><topic>Fetal Diseases - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Maternal Serum Screening Tests - methods</topic><topic>Middle Aged</topic><topic>Original Paper</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis - methods</topic><topic>Triploidy</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nicolaides, Kypros H.</creatorcontrib><creatorcontrib>Syngelaki, Argyro</creatorcontrib><creatorcontrib>Gil, M.M.</creatorcontrib><creatorcontrib>Quezada, Maria Soledad</creatorcontrib><creatorcontrib>Zinevich, Yana</creatorcontrib><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)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</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>PML(ProQuest Medical Library)</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>Nicolaides, Kypros H.</au><au>Syngelaki, Argyro</au><au>Gil, M.M.</au><au>Quezada, Maria Soledad</au><au>Zinevich, Yana</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood</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>212</spage><epage>217</epage><pages>212-217</pages><issn>1015-3837</issn><eissn>1421-9964</eissn><isbn>9783318026924</isbn><isbn>3318026921</isbn><eisbn>331802693X</eisbn><eisbn>9783318026931</eisbn><abstract>Objective: To investigate potential performance of cell-free DNA (cfDNA) testing in maternal blood in detecting fetal triploidy. Methods: Plasma and buffy coat samples obtained at 11-13 weeks' gestation from singleton pregnancies with diandric triploidy (n = 4), digynic triploidy (n = 4), euploid fetuses (n = 48) were sent to Natera, Inc. (San Carlos, Calif., USA) for cfDNA testing. Multiplex polymerase chain reaction amplification of cfDNA followed by sequencing of single nucleotide polymorphic loci covering chromosomes 13, 18, 21, X, and Y was performed. Sequencing data were analyzed using the NATUS algorithm which identifies copy number for each of the five chromosomes. Results: cfDNA testing provided a result in 44 (91.7%) of the 48 euploid cases and correctly predicted the fetal sex and the presence of two copies each of chromosome 21, 18 and 13. In diandric triploidy, cfDNA testing identified multiple paternal haplotypes (indicating fetal trisomy 21, trisomy 18 and trisomy 13) suggesting the presence of either triploidy or dizygotic twins. In digynic triploidy the fetal fraction corrected for maternal weight and gestational age was below the 0.5th percentile. Conclusions: cfDNA testing by targeted sequencing and allelic ratio analysis of single nucleotide polymorphisms covering chromosomes 21, 18, 13, X, and Y can detect diandric triploidy and raise the suspicion of digynic triploidy.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>24135152</pmid><doi>10.1159/000355655</doi><tpages>6</tpages></addata></record> |
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| ispartof | Fetal diagnosis and therapy, 2014-06, Vol.35 (3), p.212-217 |
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| subjects | Adult Cell-Free System - physiology DNA - genetics Female Fetal Diseases - diagnosis Fetal Diseases - genetics Humans Male Maternal Serum Screening Tests - methods Middle Aged Original Paper Pregnancy Prenatal Diagnosis - methods Triploidy Young Adult |
| title | Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood |
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