DNA Sequencing versus Standard Prenatal Aneuploidy Screening
To the Editor: Bianchi et al. (Feb. 27 issue) 1 described noninvasive diagnosis of fetal aneuploidy from cell-free DNA (cfDNA) in maternal plasma with the use of an Illumina HiSeq massively parallel sequencing platform and compared this method with standard prenatal aneuploidy screening. They conclu...
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Veröffentlicht in: | The New England journal of medicine 2014-08, Vol.371 (6), p.577-578 |
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container_title | The New England journal of medicine |
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creator | Liao, Can Zhengfeng, Xu Zhang, Kang Vrachnis, Nikolaos Vlachadis, Nikolaos Creatsas, Georgios Bianchi, Diana W Rava, Richard P Sehnert, Amy J |
description | To the Editor:
Bianchi et al. (Feb. 27 issue)
1
described noninvasive diagnosis of fetal aneuploidy from cell-free DNA (cfDNA) in maternal plasma with the use of an Illumina HiSeq massively parallel sequencing platform and compared this method with standard prenatal aneuploidy screening. They concluded that prenatal screening by assay of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than did standard screening. We screened for fetal aneuploidy using cfDNA from 2275 pregnant women (each of whom carried a single fetus) by means of a benchtop semiconductor sequencing platform (Ion . . . |
doi_str_mv | 10.1056/NEJMc1405486 |
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Bianchi et al. (Feb. 27 issue)
1
described noninvasive diagnosis of fetal aneuploidy from cell-free DNA (cfDNA) in maternal plasma with the use of an Illumina HiSeq massively parallel sequencing platform and compared this method with standard prenatal aneuploidy screening. They concluded that prenatal screening by assay of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than did standard screening. We screened for fetal aneuploidy using cfDNA from 2275 pregnant women (each of whom carried a single fetus) by means of a benchtop semiconductor sequencing platform (Ion . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJMc1405486</identifier><identifier>PMID: 25099587</identifier><language>eng</language><publisher>United States: Massachusetts Medical Society</publisher><subject>Aneuploidy ; DNA sequencing ; Down Syndrome - diagnosis ; Female ; Fetuses ; Genetic Testing - methods ; High-Throughput Nucleotide Sequencing ; Humans ; Pregnancy ; Prenatal Diagnosis - methods ; Trisomy - diagnosis</subject><ispartof>The New England journal of medicine, 2014-08, Vol.371 (6), p.577-578</ispartof><rights>Copyright © 2014 Massachusetts Medical Society. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c469t-b8a6f766a8bb8434e7be4f08992773e138f196b4ac47dccf7f5db3e250eeac4e3</citedby><cites>FETCH-LOGICAL-c469t-b8a6f766a8bb8434e7be4f08992773e138f196b4ac47dccf7f5db3e250eeac4e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJMc1405486$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/1551986370?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,2758,2759,26102,27923,27924,52381,54063,64384,64386,64388,72340</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25099587$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Liao, Can</creatorcontrib><creatorcontrib>Zhengfeng, Xu</creatorcontrib><creatorcontrib>Zhang, Kang</creatorcontrib><creatorcontrib>Vrachnis, Nikolaos</creatorcontrib><creatorcontrib>Vlachadis, Nikolaos</creatorcontrib><creatorcontrib>Creatsas, Georgios</creatorcontrib><creatorcontrib>Bianchi, Diana W</creatorcontrib><creatorcontrib>Rava, Richard P</creatorcontrib><creatorcontrib>Sehnert, Amy J</creatorcontrib><title>DNA Sequencing versus Standard Prenatal Aneuploidy Screening</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>To the Editor:
Bianchi et al. (Feb. 27 issue)
1
described noninvasive diagnosis of fetal aneuploidy from cell-free DNA (cfDNA) in maternal plasma with the use of an Illumina HiSeq massively parallel sequencing platform and compared this method with standard prenatal aneuploidy screening. They concluded that prenatal screening by assay of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than did standard screening. We screened for fetal aneuploidy using cfDNA from 2275 pregnant women (each of whom carried a single fetus) by means of a benchtop semiconductor sequencing platform (Ion . . .</description><subject>Aneuploidy</subject><subject>DNA sequencing</subject><subject>Down Syndrome - diagnosis</subject><subject>Female</subject><subject>Fetuses</subject><subject>Genetic Testing - methods</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis - methods</subject><subject>Trisomy - diagnosis</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqN0UtLAzEUBeAgiq2PnWsZ0IULR5PJG9yU-qY-oLoeMpk70jKTqUlH6L830ioiLprNhfBxuJeD0AHBZwRzcf54df9gCcOcKbGB-oRTmjKGxSbqY5yplElNe2gnhCmOjzC9jXoZx1pzJfvo4vJxkIzhvQNnJ-4t-QAfupCM58aVxpfJswdn5qZOBg66Wd1OykUyth7ARb2HtipTB9hfzV30en31MrxNR083d8PBKLVM6HlaKCMqKYRRRaEYZSALYBVWWmdSUiBUVUSLghnLZGltJSteFhTikgDxD-guOlnmznwbNw3zvJkEC3VtHLRdyAnnGZWSqWxNyrnWa1ImuYr06A-dtp138eYvRbQSVOKoTpfK-jYED1U-85PG-EVOcP7VVf67q8gPV6Fd0UD5g7_LieB4CZom5A6mzf85n57fl3o</recordid><startdate>20140807</startdate><enddate>20140807</enddate><creator>Liao, Can</creator><creator>Zhengfeng, Xu</creator><creator>Zhang, Kang</creator><creator>Vrachnis, Nikolaos</creator><creator>Vlachadis, Nikolaos</creator><creator>Creatsas, Georgios</creator><creator>Bianchi, Diana W</creator><creator>Rava, Richard P</creator><creator>Sehnert, Amy J</creator><general>Massachusetts Medical Society</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>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20140807</creationdate><title>DNA Sequencing versus Standard Prenatal Aneuploidy Screening</title><author>Liao, Can ; Zhengfeng, Xu ; Zhang, Kang ; Vrachnis, Nikolaos ; Vlachadis, Nikolaos ; Creatsas, Georgios ; Bianchi, Diana W ; Rava, Richard P ; Sehnert, Amy J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c469t-b8a6f766a8bb8434e7be4f08992773e138f196b4ac47dccf7f5db3e250eeac4e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Aneuploidy</topic><topic>DNA sequencing</topic><topic>Down Syndrome - diagnosis</topic><topic>Female</topic><topic>Fetuses</topic><topic>Genetic Testing - methods</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis - methods</topic><topic>Trisomy - diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Liao, Can</creatorcontrib><creatorcontrib>Zhengfeng, Xu</creatorcontrib><creatorcontrib>Zhang, Kang</creatorcontrib><creatorcontrib>Vrachnis, Nikolaos</creatorcontrib><creatorcontrib>Vlachadis, Nikolaos</creatorcontrib><creatorcontrib>Creatsas, Georgios</creatorcontrib><creatorcontrib>Bianchi, Diana W</creatorcontrib><creatorcontrib>Rava, Richard P</creatorcontrib><creatorcontrib>Sehnert, Amy J</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Pharma and Biotech Premium PRO</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</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>SciTech Premium Collection</collection><collection>New England Journal of Medicine</collection><collection>ProQuest Biological Science Collection</collection><collection>Consumer Health Database</collection><collection>Healthcare Administration Database</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</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 One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Liao, Can</au><au>Zhengfeng, Xu</au><au>Zhang, Kang</au><au>Vrachnis, Nikolaos</au><au>Vlachadis, Nikolaos</au><au>Creatsas, Georgios</au><au>Bianchi, Diana W</au><au>Rava, Richard P</au><au>Sehnert, Amy J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>DNA Sequencing versus Standard Prenatal Aneuploidy Screening</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>2014-08-07</date><risdate>2014</risdate><volume>371</volume><issue>6</issue><spage>577</spage><epage>578</epage><pages>577-578</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><abstract>To the Editor:
Bianchi et al. (Feb. 27 issue)
1
described noninvasive diagnosis of fetal aneuploidy from cell-free DNA (cfDNA) in maternal plasma with the use of an Illumina HiSeq massively parallel sequencing platform and compared this method with standard prenatal aneuploidy screening. They concluded that prenatal screening by assay of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than did standard screening. We screened for fetal aneuploidy using cfDNA from 2275 pregnant women (each of whom carried a single fetus) by means of a benchtop semiconductor sequencing platform (Ion . . .</abstract><cop>United States</cop><pub>Massachusetts Medical Society</pub><pmid>25099587</pmid><doi>10.1056/NEJMc1405486</doi><tpages>2</tpages></addata></record> |
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subjects | Aneuploidy DNA sequencing Down Syndrome - diagnosis Female Fetuses Genetic Testing - methods High-Throughput Nucleotide Sequencing Humans Pregnancy Prenatal Diagnosis - methods Trisomy - diagnosis |
title | DNA Sequencing versus Standard Prenatal Aneuploidy Screening |
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