title: BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.
abstract: 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.
authors.affiliation: IVIOMICS, Calle Catedrático Agustín Escardino 9, Paterna, 46980 Valencia, Spain.
authors.forename: Sandra
authors.identifier: 0000-0002-7482-9052
authors.initials: S
authors.lastname: García-Herrero
authors.affiliation: IVIOMICS, Calle Catedrático Agustín Escardino 9, Paterna, 46980 Valencia, Spain.
authors.forename: Inmaculada
authors.identifier: 0000-0003-3961-8628
authors.initials: I
authors.lastname: Campos-Galindo
authors.affiliation: IVIOMICS, Calle Catedrático Agustín Escardino 9, Paterna, 46980 Valencia, Spain.
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Martínez-Conejero
authors.affiliation: Obstetrics Unit, University Institute IVI Valencia, Plaça de la Policia Local 3, 46015 Valencia, Spain.
authors.forename: Vicente
authors.initials: V
authors.lastname: Serra
authors.affiliation: Obstetrics Unit, University Institute IVI Valencia, Plaça de la Policia Local 3, 46015 Valencia, Spain.
authors.forename: Inés
authors.initials: I
authors.lastname: Olmo
authors.affiliation: Obstetrics Unit, University Institute IVI Valencia, Plaça de la Policia Local 3, 46015 Valencia, Spain.
authors.forename: Coral
authors.initials: C
authors.lastname: Lara
authors.affiliation: Fundación Instituto Valenciano de Infertilidad (FIVI) e Instituto Universitario IVI/INCLIVA, Valencia, Spain ; Department of Obstetrics and Gynecology, School of Medicine, Stanford University, CA, USA.
authors.forename: Carlos
authors.initials: C
authors.lastname: Simón
authors.affiliation: IVIOMICS, Calle Catedrático Agustín Escardino 9, Paterna, 46980 Valencia, Spain.
authors.forename: Carmen
authors.identifier: 0000-0002-7582-3875
authors.initials: C
authors.lastname: Rubio
mesh_terms: D000653:Amniotic Fluid / Q000737:chemistry; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*