Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relative high accuracy of current NIPT testing, a substantial number of false-positive and false-negative test...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:European journal of human genetics : EJHG 2015-10, Vol.23 (10), p.1286-1293
Hauptverfasser: Bayindir, Baran, Dehaspe, Luc, Brison, Nathalie, Brady, Paul, Ardui, Simon, Kammoun, Molka, Van der Veken, Lars, Lichtenbelt, Klaske, Van den Bogaert, Kris, Van Houdt, Jeroen, Peeters, Hilde, Van Esch, Hilde, de Ravel, Thomy, Legius, Eric, Devriendt, Koen, Vermeesch, Joris R
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 1293
container_issue 10
container_start_page 1286
container_title European journal of human genetics : EJHG
container_volume 23
creator Bayindir, Baran
Dehaspe, Luc
Brison, Nathalie
Brady, Paul
Ardui, Simon
Kammoun, Molka
Van der Veken, Lars
Lichtenbelt, Klaske
Van den Bogaert, Kris
Van Houdt, Jeroen
Peeters, Hilde
Van Esch, Hilde
de Ravel, Thomy
Legius, Eric
Devriendt, Koen
Vermeesch, Joris R
description Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relative high accuracy of current NIPT testing, a substantial number of false-positive and false-negative test results remain. Here, we present an analysis pipeline, which addresses some of the technical as well as the biologically derived causes of error. Most importantly, it differentiates high z-scores due to fetal trisomies from those due to local maternal CNVs causing false positives. This pipeline was retrospectively validated for trisomy 18 and 21 detection on 296 samples demonstrating a sensitivity and specificity of 100%, and applied prospectively to 1350 pregnant women in the clinical diagnostic setting with a result reported in 99.9% of cases. In addition, values indicative for trisomy were observed two times for chromosome 7 and once each for chromosomes 15 and 16, and once for a segmental trisomy 18. Two of the trisomies were confirmed to be mosaic, one of which contained a uniparental disomy cell line. As placental trisomies pose a risk for low-grade fetal mosaicism as well as uniparental disomy, genome-wide noninvasive aneuploidy detection is improving prenatal management.
doi_str_mv 10.1038/ejhg.2014.282
format Article
fullrecord <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4592078</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1765992085</sourcerecordid><originalsourceid>FETCH-LOGICAL-c518t-9f3c70463c76cb2c1055ca7204f0b530cf6fcf740712c660605c24f15bcea98c3</originalsourceid><addsrcrecordid>eNqNkkFrFDEUxwdRbK0evUrAi5dZk0kyyV4EKdUKRS96Dtn0ZZolk4zJzMJ-BL-1b-harCcvL4H8-OW9x79pXjO6YZTr97C_GzYdZWLT6e5Jc86E6lspuH6Kd8p0KzTjZ82LWvcUKaXY8-ask1JLRcV58-trTiEdbA0HIFOBZGcbyQx1DmkgS12rJSkfIBKbbDzWUMkUJoghAZkzqa4AJOJzITYis8y55hEdHlaTTbBMMYfbAJWEcSpoqutHQ7LJHcmI0gFGSPPL5pm3scKr03nR_Ph09f3yur359vnL5ceb1kmm53brucPOe6y923WOUSmdVR0Vnu4kp8733nklqGKd63vaU-k64ZncObBb7fhF8-HeOy27EW4dfl1sNFMJoy1Hk20wj19SuDNDPhghtx1VGgXvToKSfy64KTOG6iBGnDUv1TDVyy2iWv4HyvhWciU4om__Qfd5KbjxE6V6LEi195QrudYC_qFvRs2aB7Pmwax5MJgH5N_8PewD_ScA_DeKZLTo</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1713976139</pqid></control><display><type>article</type><title>Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Bayindir, Baran ; Dehaspe, Luc ; Brison, Nathalie ; Brady, Paul ; Ardui, Simon ; Kammoun, Molka ; Van der Veken, Lars ; Lichtenbelt, Klaske ; Van den Bogaert, Kris ; Van Houdt, Jeroen ; Peeters, Hilde ; Van Esch, Hilde ; de Ravel, Thomy ; Legius, Eric ; Devriendt, Koen ; Vermeesch, Joris R</creator><creatorcontrib>Bayindir, Baran ; Dehaspe, Luc ; Brison, Nathalie ; Brady, Paul ; Ardui, Simon ; Kammoun, Molka ; Van der Veken, Lars ; Lichtenbelt, Klaske ; Van den Bogaert, Kris ; Van Houdt, Jeroen ; Peeters, Hilde ; Van Esch, Hilde ; de Ravel, Thomy ; Legius, Eric ; Devriendt, Koen ; Vermeesch, Joris R</creatorcontrib><description>Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relative high accuracy of current NIPT testing, a substantial number of false-positive and false-negative test results remain. Here, we present an analysis pipeline, which addresses some of the technical as well as the biologically derived causes of error. Most importantly, it differentiates high z-scores due to fetal trisomies from those due to local maternal CNVs causing false positives. This pipeline was retrospectively validated for trisomy 18 and 21 detection on 296 samples demonstrating a sensitivity and specificity of 100%, and applied prospectively to 1350 pregnant women in the clinical diagnostic setting with a result reported in 99.9% of cases. In addition, values indicative for trisomy were observed two times for chromosome 7 and once each for chromosomes 15 and 16, and once for a segmental trisomy 18. Two of the trisomies were confirmed to be mosaic, one of which contained a uniparental disomy cell line. As placental trisomies pose a risk for low-grade fetal mosaicism as well as uniparental disomy, genome-wide noninvasive aneuploidy detection is improving prenatal management.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/ejhg.2014.282</identifier><identifier>PMID: 25585704</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Aneuploidy ; Bioinformatics ; Chromosome 7 ; Chromosome Aberrations ; Chromosome Disorders - genetics ; Chromosomes ; Chromosomes, Human - genetics ; Chromosomes, Human, Pair 18 - genetics ; Deoxyribonucleic acid ; DNA ; DNA sequencing ; Down Syndrome - genetics ; Female ; Fetus - pathology ; Fetuses ; Genetic Testing - methods ; Genomes ; High-Throughput Nucleotide Sequencing - methods ; Humans ; Mosaicism ; Pipelines ; Placenta ; Placenta - pathology ; Plasma ; Pregnancy ; Prenatal Diagnosis - methods ; Retrospective Studies ; Trisomy ; Trisomy - genetics ; Trisomy 18 Syndrome ; Ultrasonic imaging ; Uniparental disomy ; Women</subject><ispartof>European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1286-1293</ispartof><rights>Copyright Nature Publishing Group Oct 2015</rights><rights>Copyright © 2015 Macmillan Publishers Limited 2015 Macmillan Publishers Limited</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c518t-9f3c70463c76cb2c1055ca7204f0b530cf6fcf740712c660605c24f15bcea98c3</citedby><cites>FETCH-LOGICAL-c518t-9f3c70463c76cb2c1055ca7204f0b530cf6fcf740712c660605c24f15bcea98c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592078/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592078/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,729,782,786,887,27931,27932,53798,53800</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25585704$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bayindir, Baran</creatorcontrib><creatorcontrib>Dehaspe, Luc</creatorcontrib><creatorcontrib>Brison, Nathalie</creatorcontrib><creatorcontrib>Brady, Paul</creatorcontrib><creatorcontrib>Ardui, Simon</creatorcontrib><creatorcontrib>Kammoun, Molka</creatorcontrib><creatorcontrib>Van der Veken, Lars</creatorcontrib><creatorcontrib>Lichtenbelt, Klaske</creatorcontrib><creatorcontrib>Van den Bogaert, Kris</creatorcontrib><creatorcontrib>Van Houdt, Jeroen</creatorcontrib><creatorcontrib>Peeters, Hilde</creatorcontrib><creatorcontrib>Van Esch, Hilde</creatorcontrib><creatorcontrib>de Ravel, Thomy</creatorcontrib><creatorcontrib>Legius, Eric</creatorcontrib><creatorcontrib>Devriendt, Koen</creatorcontrib><creatorcontrib>Vermeesch, Joris R</creatorcontrib><title>Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><description>Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relative high accuracy of current NIPT testing, a substantial number of false-positive and false-negative test results remain. Here, we present an analysis pipeline, which addresses some of the technical as well as the biologically derived causes of error. Most importantly, it differentiates high z-scores due to fetal trisomies from those due to local maternal CNVs causing false positives. This pipeline was retrospectively validated for trisomy 18 and 21 detection on 296 samples demonstrating a sensitivity and specificity of 100%, and applied prospectively to 1350 pregnant women in the clinical diagnostic setting with a result reported in 99.9% of cases. In addition, values indicative for trisomy were observed two times for chromosome 7 and once each for chromosomes 15 and 16, and once for a segmental trisomy 18. Two of the trisomies were confirmed to be mosaic, one of which contained a uniparental disomy cell line. As placental trisomies pose a risk for low-grade fetal mosaicism as well as uniparental disomy, genome-wide noninvasive aneuploidy detection is improving prenatal management.</description><subject>Aneuploidy</subject><subject>Bioinformatics</subject><subject>Chromosome 7</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Disorders - genetics</subject><subject>Chromosomes</subject><subject>Chromosomes, Human - genetics</subject><subject>Chromosomes, Human, Pair 18 - genetics</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA sequencing</subject><subject>Down Syndrome - genetics</subject><subject>Female</subject><subject>Fetus - pathology</subject><subject>Fetuses</subject><subject>Genetic Testing - methods</subject><subject>Genomes</subject><subject>High-Throughput Nucleotide Sequencing - methods</subject><subject>Humans</subject><subject>Mosaicism</subject><subject>Pipelines</subject><subject>Placenta</subject><subject>Placenta - pathology</subject><subject>Plasma</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis - methods</subject><subject>Retrospective Studies</subject><subject>Trisomy</subject><subject>Trisomy - genetics</subject><subject>Trisomy 18 Syndrome</subject><subject>Ultrasonic imaging</subject><subject>Uniparental disomy</subject><subject>Women</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNkkFrFDEUxwdRbK0evUrAi5dZk0kyyV4EKdUKRS96Dtn0ZZolk4zJzMJ-BL-1b-harCcvL4H8-OW9x79pXjO6YZTr97C_GzYdZWLT6e5Jc86E6lspuH6Kd8p0KzTjZ82LWvcUKaXY8-ask1JLRcV58-trTiEdbA0HIFOBZGcbyQx1DmkgS12rJSkfIBKbbDzWUMkUJoghAZkzqa4AJOJzITYis8y55hEdHlaTTbBMMYfbAJWEcSpoqutHQ7LJHcmI0gFGSPPL5pm3scKr03nR_Ph09f3yur359vnL5ceb1kmm53brucPOe6y923WOUSmdVR0Vnu4kp8733nklqGKd63vaU-k64ZncObBb7fhF8-HeOy27EW4dfl1sNFMJoy1Hk20wj19SuDNDPhghtx1VGgXvToKSfy64KTOG6iBGnDUv1TDVyy2iWv4HyvhWciU4om__Qfd5KbjxE6V6LEi195QrudYC_qFvRs2aB7Pmwax5MJgH5N_8PewD_ScA_DeKZLTo</recordid><startdate>20151001</startdate><enddate>20151001</enddate><creator>Bayindir, Baran</creator><creator>Dehaspe, Luc</creator><creator>Brison, Nathalie</creator><creator>Brady, Paul</creator><creator>Ardui, Simon</creator><creator>Kammoun, Molka</creator><creator>Van der Veken, Lars</creator><creator>Lichtenbelt, Klaske</creator><creator>Van den Bogaert, Kris</creator><creator>Van Houdt, Jeroen</creator><creator>Peeters, Hilde</creator><creator>Van Esch, Hilde</creator><creator>de Ravel, Thomy</creator><creator>Legius, Eric</creator><creator>Devriendt, Koen</creator><creator>Vermeesch, Joris R</creator><general>Nature Publishing Group</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20151001</creationdate><title>Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management</title><author>Bayindir, Baran ; Dehaspe, Luc ; Brison, Nathalie ; Brady, Paul ; Ardui, Simon ; Kammoun, Molka ; Van der Veken, Lars ; Lichtenbelt, Klaske ; Van den Bogaert, Kris ; Van Houdt, Jeroen ; Peeters, Hilde ; Van Esch, Hilde ; de Ravel, Thomy ; Legius, Eric ; Devriendt, Koen ; Vermeesch, Joris R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c518t-9f3c70463c76cb2c1055ca7204f0b530cf6fcf740712c660605c24f15bcea98c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Aneuploidy</topic><topic>Bioinformatics</topic><topic>Chromosome 7</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Disorders - genetics</topic><topic>Chromosomes</topic><topic>Chromosomes, Human - genetics</topic><topic>Chromosomes, Human, Pair 18 - genetics</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA sequencing</topic><topic>Down Syndrome - genetics</topic><topic>Female</topic><topic>Fetus - pathology</topic><topic>Fetuses</topic><topic>Genetic Testing - methods</topic><topic>Genomes</topic><topic>High-Throughput Nucleotide Sequencing - methods</topic><topic>Humans</topic><topic>Mosaicism</topic><topic>Pipelines</topic><topic>Placenta</topic><topic>Placenta - pathology</topic><topic>Plasma</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis - methods</topic><topic>Retrospective Studies</topic><topic>Trisomy</topic><topic>Trisomy - genetics</topic><topic>Trisomy 18 Syndrome</topic><topic>Ultrasonic imaging</topic><topic>Uniparental disomy</topic><topic>Women</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bayindir, Baran</creatorcontrib><creatorcontrib>Dehaspe, Luc</creatorcontrib><creatorcontrib>Brison, Nathalie</creatorcontrib><creatorcontrib>Brady, Paul</creatorcontrib><creatorcontrib>Ardui, Simon</creatorcontrib><creatorcontrib>Kammoun, Molka</creatorcontrib><creatorcontrib>Van der Veken, Lars</creatorcontrib><creatorcontrib>Lichtenbelt, Klaske</creatorcontrib><creatorcontrib>Van den Bogaert, Kris</creatorcontrib><creatorcontrib>Van Houdt, Jeroen</creatorcontrib><creatorcontrib>Peeters, Hilde</creatorcontrib><creatorcontrib>Van Esch, Hilde</creatorcontrib><creatorcontrib>de Ravel, Thomy</creatorcontrib><creatorcontrib>Legius, Eric</creatorcontrib><creatorcontrib>Devriendt, Koen</creatorcontrib><creatorcontrib>Vermeesch, Joris R</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>Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bayindir, Baran</au><au>Dehaspe, Luc</au><au>Brison, Nathalie</au><au>Brady, Paul</au><au>Ardui, Simon</au><au>Kammoun, Molka</au><au>Van der Veken, Lars</au><au>Lichtenbelt, Klaske</au><au>Van den Bogaert, Kris</au><au>Van Houdt, Jeroen</au><au>Peeters, Hilde</au><au>Van Esch, Hilde</au><au>de Ravel, Thomy</au><au>Legius, Eric</au><au>Devriendt, Koen</au><au>Vermeesch, Joris R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management</atitle><jtitle>European journal of human genetics : EJHG</jtitle><addtitle>Eur J Hum Genet</addtitle><date>2015-10-01</date><risdate>2015</risdate><volume>23</volume><issue>10</issue><spage>1286</spage><epage>1293</epage><pages>1286-1293</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relative high accuracy of current NIPT testing, a substantial number of false-positive and false-negative test results remain. Here, we present an analysis pipeline, which addresses some of the technical as well as the biologically derived causes of error. Most importantly, it differentiates high z-scores due to fetal trisomies from those due to local maternal CNVs causing false positives. This pipeline was retrospectively validated for trisomy 18 and 21 detection on 296 samples demonstrating a sensitivity and specificity of 100%, and applied prospectively to 1350 pregnant women in the clinical diagnostic setting with a result reported in 99.9% of cases. In addition, values indicative for trisomy were observed two times for chromosome 7 and once each for chromosomes 15 and 16, and once for a segmental trisomy 18. Two of the trisomies were confirmed to be mosaic, one of which contained a uniparental disomy cell line. As placental trisomies pose a risk for low-grade fetal mosaicism as well as uniparental disomy, genome-wide noninvasive aneuploidy detection is improving prenatal management.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>25585704</pmid><doi>10.1038/ejhg.2014.282</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1018-4813
ispartof European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1286-1293
issn 1018-4813
1476-5438
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4592078
source MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection
subjects Aneuploidy
Bioinformatics
Chromosome 7
Chromosome Aberrations
Chromosome Disorders - genetics
Chromosomes
Chromosomes, Human - genetics
Chromosomes, Human, Pair 18 - genetics
Deoxyribonucleic acid
DNA
DNA sequencing
Down Syndrome - genetics
Female
Fetus - pathology
Fetuses
Genetic Testing - methods
Genomes
High-Throughput Nucleotide Sequencing - methods
Humans
Mosaicism
Pipelines
Placenta
Placenta - pathology
Plasma
Pregnancy
Prenatal Diagnosis - methods
Retrospective Studies
Trisomy
Trisomy - genetics
Trisomy 18 Syndrome
Ultrasonic imaging
Uniparental disomy
Women
title Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-05T13%3A06%3A54IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Noninvasive%20prenatal%20testing%20using%20a%20novel%20analysis%20pipeline%20to%20screen%20for%20all%20autosomal%20fetal%20aneuploidies%20improves%20pregnancy%20management&rft.jtitle=European%20journal%20of%20human%20genetics%20:%20EJHG&rft.au=Bayindir,%20Baran&rft.date=2015-10-01&rft.volume=23&rft.issue=10&rft.spage=1286&rft.epage=1293&rft.pages=1286-1293&rft.issn=1018-4813&rft.eissn=1476-5438&rft_id=info:doi/10.1038/ejhg.2014.282&rft_dat=%3Cproquest_pubme%3E1765992085%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1713976139&rft_id=info:pmid/25585704&rfr_iscdi=true