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Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis
This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant women who were 35 or more years-old. The primary outcome was...
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| Published in: | Molecular cytogenetics 2019-02, Vol.12 (1), p.9-9, Article 9 |
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| creator | Miao, Zhengyou Liu, Xia Hu, Furong Zhang, Ming Yang, Pingli Wang, Luming |
| description | This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant women who were 35 or more years-old.
The primary outcome was concordance of any numerical, structural, or submicroscopic chromosomal abnormalities between BoBs™ and conventional karyotyping of amniotic fluid specimens from pregnant women at 17 to 22 weeks gestation.
We examined samples from 4852 pregnant women. BoBs™ indicated that 4708 samples were normal (97.03%), and 144 were abnormal (2.97%); conventional karyotyping indicated that 4656 (95.96%) samples were normal and 196 (4.04%) were abnormal. The combined use of both methods indicated that 4633 of 4852 samples were normal (95.49%) and 219 of 4852 samples (4.51%) were abnormal. The kappa coefficient of the combined test was 0.70, indicating substantial consistency between BoBs™ and conventional karyotyping (95% CI = 0.65-0.76,
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| doi_str_mv | 10.1186/s13039-019-0416-6 |
| format | article |
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The primary outcome was concordance of any numerical, structural, or submicroscopic chromosomal abnormalities between BoBs™ and conventional karyotyping of amniotic fluid specimens from pregnant women at 17 to 22 weeks gestation.
We examined samples from 4852 pregnant women. BoBs™ indicated that 4708 samples were normal (97.03%), and 144 were abnormal (2.97%); conventional karyotyping indicated that 4656 (95.96%) samples were normal and 196 (4.04%) were abnormal. The combined use of both methods indicated that 4633 of 4852 samples were normal (95.49%) and 219 of 4852 samples (4.51%) were abnormal. The kappa coefficient of the combined test was 0.70, indicating substantial consistency between BoBs™ and conventional karyotyping (95% CI = 0.65-0.76,
< 0.001).
Our results indicate that the combined use of BoBs™ and conventional karyotyping detected more fetal abnormalities than either test alone.</description><identifier>ISSN: 1755-8166</identifier><identifier>EISSN: 1755-8166</identifier><identifier>DOI: 10.1186/s13039-019-0416-6</identifier><identifier>PMID: 30833983</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Amniocentesis ; Amniotic fluid ; Artificial chromosomes ; Bacterial artificial chromosomes ; Chromosome aberrations ; Chromosome disorders ; Chromosomes ; Deoxyribonucleic acid ; DNA ; Fetuses ; Genetic aspects ; Gestation ; Health risk assessment ; Hybridization ; Karyotypes ; Karyotyping ; Methods ; Polymerase chain reaction ; Pregnancy ; Pregnant women ; Prenatal development ; Prenatal diagnosis ; Studies ; Ultrasonic imaging ; Womens health</subject><ispartof>Molecular cytogenetics, 2019-02, Vol.12 (1), p.9-9, Article 9</ispartof><rights>COPYRIGHT 2019 BioMed Central Ltd.</rights><rights>Copyright © 2019. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s). 2019</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c521t-a908569169785cd246ecc23ae751453f567ec6a3cc6a8fd1864bd3eb14d0d98d3</citedby><cites>FETCH-LOGICAL-c521t-a908569169785cd246ecc23ae751453f567ec6a3cc6a8fd1864bd3eb14d0d98d3</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/PMC6385468/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2193413327?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,25731,27901,27902,36989,36990,44566,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30833983$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Miao, Zhengyou</creatorcontrib><creatorcontrib>Liu, Xia</creatorcontrib><creatorcontrib>Hu, Furong</creatorcontrib><creatorcontrib>Zhang, Ming</creatorcontrib><creatorcontrib>Yang, Pingli</creatorcontrib><creatorcontrib>Wang, Luming</creatorcontrib><title>Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis</title><title>Molecular cytogenetics</title><addtitle>Mol Cytogenet</addtitle><description>This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant women who were 35 or more years-old.
The primary outcome was concordance of any numerical, structural, or submicroscopic chromosomal abnormalities between BoBs™ and conventional karyotyping of amniotic fluid specimens from pregnant women at 17 to 22 weeks gestation.
We examined samples from 4852 pregnant women. BoBs™ indicated that 4708 samples were normal (97.03%), and 144 were abnormal (2.97%); conventional karyotyping indicated that 4656 (95.96%) samples were normal and 196 (4.04%) were abnormal. The combined use of both methods indicated that 4633 of 4852 samples were normal (95.49%) and 219 of 4852 samples (4.51%) were abnormal. The kappa coefficient of the combined test was 0.70, indicating substantial consistency between BoBs™ and conventional karyotyping (95% CI = 0.65-0.76,
< 0.001).
Our results indicate that the combined use of BoBs™ and conventional karyotyping detected more fetal abnormalities than either test alone.</description><subject>Amniocentesis</subject><subject>Amniotic fluid</subject><subject>Artificial chromosomes</subject><subject>Bacterial artificial chromosomes</subject><subject>Chromosome aberrations</subject><subject>Chromosome disorders</subject><subject>Chromosomes</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Fetuses</subject><subject>Genetic aspects</subject><subject>Gestation</subject><subject>Health risk assessment</subject><subject>Hybridization</subject><subject>Karyotypes</subject><subject>Karyotyping</subject><subject>Methods</subject><subject>Polymerase chain reaction</subject><subject>Pregnancy</subject><subject>Pregnant women</subject><subject>Prenatal development</subject><subject>Prenatal diagnosis</subject><subject>Studies</subject><subject>Ultrasonic imaging</subject><subject>Womens health</subject><issn>1755-8166</issn><issn>1755-8166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNpdkk1v1DAQhiMEomXhB3BBkbhwCXjijzgXpGrFR6VKXOBs-WOy6yWxg51t1X-Pw5bScrA9st95PDN6q-o1kPcAUnzIQAntGwJlMRCNeFKdQ8d5I0GIpw_is-pFzgdCBFDJnldnlEhKe0nPq7CNk_EBXX3MWMehNtoumLwea50WP3i7hnaf4hRznDA3MTQGtcv1jV_29U-dbuNyO2PtcEG7-BhqP80pXmOu54RBLyXfeb0LMfv8sno26DHjq7tzU_34_On79mtz9e3L5fbiqrG8haXRPZFc9CD6TnLrWibQ2pZq7DgwTgcuOrRCU1s2ObgyC2YcRQPMEddLRzfV5Ynroj6oOfmp1Kmi9urPRUw7tbZnR1Smc6btpEXNCWM4aMHAWDNwpluHmhbWxxNrPpoJncWwJD0-gj5-CX6vdvFaCSo5E7IA3t0BUvx1xLyoyWeL46gDxmNWLUjZEglklb79T3qIxxTKqIqqpwwobbt_qp0uDfgwxPKvXaHqgkugPfQ9Lyo4qWyKOScc7ksGolb_qJN_VPGPWv1TCt5Ubx72ep_x1zD0N1Bowtc</recordid><startdate>20190222</startdate><enddate>20190222</enddate><creator>Miao, Zhengyou</creator><creator>Liu, Xia</creator><creator>Hu, Furong</creator><creator>Zhang, Ming</creator><creator>Yang, Pingli</creator><creator>Wang, Luming</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</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>M7P</scope><scope>P64</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PIMPY</scope><scope>PKEHL</scope><scope>PQEST</scope><scope>PQGLB</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20190222</creationdate><title>Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis</title><author>Miao, Zhengyou ; Liu, Xia ; Hu, Furong ; Zhang, Ming ; Yang, Pingli ; Wang, Luming</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c521t-a908569169785cd246ecc23ae751453f567ec6a3cc6a8fd1864bd3eb14d0d98d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Amniocentesis</topic><topic>Amniotic fluid</topic><topic>Artificial chromosomes</topic><topic>Bacterial artificial chromosomes</topic><topic>Chromosome aberrations</topic><topic>Chromosome disorders</topic><topic>Chromosomes</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Fetuses</topic><topic>Genetic aspects</topic><topic>Gestation</topic><topic>Health risk assessment</topic><topic>Hybridization</topic><topic>Karyotypes</topic><topic>Karyotyping</topic><topic>Methods</topic><topic>Polymerase chain reaction</topic><topic>Pregnancy</topic><topic>Pregnant women</topic><topic>Prenatal development</topic><topic>Prenatal diagnosis</topic><topic>Studies</topic><topic>Ultrasonic imaging</topic><topic>Womens health</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Miao, Zhengyou</creatorcontrib><creatorcontrib>Liu, Xia</creatorcontrib><creatorcontrib>Hu, Furong</creatorcontrib><creatorcontrib>Zhang, Ming</creatorcontrib><creatorcontrib>Yang, Pingli</creatorcontrib><creatorcontrib>Wang, Luming</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</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)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</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 & Medical Complete (Alumni)</collection><collection>Biological Sciences</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>Publicly Available Content (ProQuest)</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Applied & Life Sciences</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Molecular cytogenetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Miao, Zhengyou</au><au>Liu, Xia</au><au>Hu, Furong</au><au>Zhang, Ming</au><au>Yang, Pingli</au><au>Wang, Luming</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis</atitle><jtitle>Molecular cytogenetics</jtitle><addtitle>Mol Cytogenet</addtitle><date>2019-02-22</date><risdate>2019</risdate><volume>12</volume><issue>1</issue><spage>9</spage><epage>9</epage><pages>9-9</pages><artnum>9</artnum><issn>1755-8166</issn><eissn>1755-8166</eissn><abstract>This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant women who were 35 or more years-old.
The primary outcome was concordance of any numerical, structural, or submicroscopic chromosomal abnormalities between BoBs™ and conventional karyotyping of amniotic fluid specimens from pregnant women at 17 to 22 weeks gestation.
We examined samples from 4852 pregnant women. BoBs™ indicated that 4708 samples were normal (97.03%), and 144 were abnormal (2.97%); conventional karyotyping indicated that 4656 (95.96%) samples were normal and 196 (4.04%) were abnormal. The combined use of both methods indicated that 4633 of 4852 samples were normal (95.49%) and 219 of 4852 samples (4.51%) were abnormal. The kappa coefficient of the combined test was 0.70, indicating substantial consistency between BoBs™ and conventional karyotyping (95% CI = 0.65-0.76,
< 0.001).
Our results indicate that the combined use of BoBs™ and conventional karyotyping detected more fetal abnormalities than either test alone.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>30833983</pmid><doi>10.1186/s13039-019-0416-6</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Amniocentesis Amniotic fluid Artificial chromosomes Bacterial artificial chromosomes Chromosome aberrations Chromosome disorders Chromosomes Deoxyribonucleic acid DNA Fetuses Genetic aspects Gestation Health risk assessment Hybridization Karyotypes Karyotyping Methods Polymerase chain reaction Pregnancy Pregnant women Prenatal development Prenatal diagnosis Studies Ultrasonic imaging Womens health |
| title | Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis |
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