BACs-on-Beads Technology : A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis
The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid an...
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description | The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples. |
doi_str_mv | 10.1155/2014/590298 |
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The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.</description><identifier>ISSN: 2314-6133</identifier><identifier>EISSN: 2314-6141</identifier><identifier>DOI: 10.1155/2014/590298</identifier><identifier>PMID: 24795887</identifier><language>eng</language><publisher>Cairo, Egypt: Hindawi Puplishing Corporation</publisher><subject>Amniotic Fluid - chemistry ; Aneuploidy ; Artificial chromosomes ; Automation ; Biomedical research ; Chorionic Villi Sampling ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Defects ; Diagnosis ; Down syndrome ; Female ; Genetic counseling ; Genetic Testing - methods ; Genomes ; Humans ; Karyotyping ; Laboratories ; Obstetrics ; Pregnancy ; Prenatal diagnosis ; Prenatal Diagnosis - methods ; Technology application ; Ultrasonic imaging</subject><ispartof>BioMed research international, 2014-01, Vol.2014 (2014), p.1-7</ispartof><rights>Copyright © 2014 Sandra García-Herrero et al.</rights><rights>COPYRIGHT 2014 John Wiley & Sons, Inc.</rights><rights>Copyright © 2014 Sandra García-Herrero et al. Sandra García-Herrero et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</rights><rights>Copyright © 2014 Sandra García-Herrero et al. 2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c527t-ba688044eafbb01deb6417ba1253ebac5b7d75fce4ae1e0349d83c3d9b6e78f73</citedby><cites>FETCH-LOGICAL-c527t-ba688044eafbb01deb6417ba1253ebac5b7d75fce4ae1e0349d83c3d9b6e78f73</cites><orcidid>0000-0003-3961-8628 ; 0000-0002-7582-3875 ; 0000-0002-7482-9052</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985206/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985206/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24795887$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Virant-Klun, Irma</contributor><creatorcontrib>García-Herrero, Sandra</creatorcontrib><creatorcontrib>Campos-Galindo, Inmaculada</creatorcontrib><creatorcontrib>Martínez-Conejero, José Antonio</creatorcontrib><creatorcontrib>Serra, Vicente</creatorcontrib><creatorcontrib>Olmo, Inés</creatorcontrib><creatorcontrib>Lara, Coral</creatorcontrib><creatorcontrib>Simón, Carlos</creatorcontrib><creatorcontrib>Rubio, Carmen</creatorcontrib><title>BACs-on-Beads Technology : A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis</title><title>BioMed research international</title><addtitle>Biomed Res Int</addtitle><description>The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. 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The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. 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subjects | Amniotic Fluid - chemistry Aneuploidy Artificial chromosomes Automation Biomedical research Chorionic Villi Sampling Chromosome Aberrations Comparative Genomic Hybridization Defects Diagnosis Down syndrome Female Genetic counseling Genetic Testing - methods Genomes Humans Karyotyping Laboratories Obstetrics Pregnancy Prenatal diagnosis Prenatal Diagnosis - methods Technology application Ultrasonic imaging |
title | BACs-on-Beads Technology : A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis |
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