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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Veröffentlicht in:BioMed research international 2014-01, Vol.2014 (2014), p.1-7
Hauptverfasser: García-Herrero, Sandra, Campos-Galindo, Inmaculada, Martínez-Conejero, José Antonio, Serra, Vicente, Olmo, Inés, Lara, Coral, Simón, Carlos, Rubio, Carmen
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container_end_page 7
container_issue 2014
container_start_page 1
container_title BioMed research international
container_volume 2014
creator García-Herrero, Sandra
Campos-Galindo, Inmaculada
Martínez-Conejero, José Antonio
Serra, Vicente
Olmo, Inés
Lara, Coral
Simón, Carlos
Rubio, Carmen
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. 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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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