title: Prenatal BACs-on-Beads™ : a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.
abstract: OBJECTIVE
  Molecular cytogenetic techniques on uncultured prenatal samples are the sole tests applied in some countries in cases with advanced maternal age (AMA) or increased risk after prenatal screening. Moreover, there is a trend to perform invasive prenatal diagnosis (PD) during the first trimester before ultrasound manifestations, so new rapid and reliable assays are necessary to investigate microdeletions not detectable with the conventional karyotype. We report the validation study of the prenatal bacterial artificial chromosomes-on-Beads™ (BoBs™ ; CE-IVD), a bead-based multiplex assay detecting chromosomes 13, 18, 21, X/Y aneuploidies and nine microdeletion regions having an overall detection rate of 1/1700.
  
  
  METHODS
  We retrospectively studied 408 selected samples and prospectively tested 212 consecutive samples ascertained for conventional karyotyping.
  
  
  RESULTS
  We did not find false-positive results. Triploidies were not detected. Maternal cell contamination of male samples up to 90% was unmasked inspecting gonosome profiles. Mosaic conditions at 20 to 30% were revealed. Failures were due to low amount of DNA.
  
  
  CONCLUSIONS
  Prenatal BoBs™ is a robust technology for the investigation of fetuses with normal karyotype with or without sonographic abnormalities. Running in parallel with the karyotype analysis, it can be proposed instead of rapid FISH or QF-PCR providing rapid results on common aneuploidies and additional information regarding the microdeletion syndromes.
authors.affiliation: Department of Cytogenetics, Obstetrics and Gynaeacology, CHI Poissy St Germain, Poissy, France; UVSQ, EA 2493, Versailles, France. fvialard@hotmail.com
authors.forename: F
authors.initials: F
authors.lastname: Vialard
authors.forename: G
authors.initials: G
authors.lastname: Simoni
authors.forename: A
authors.initials: A
authors.lastname: Aboura
authors.forename: S
authors.initials: S
authors.lastname: De Toffol
authors.forename: D
authors.initials: D
authors.lastname: Molina Gomes
authors.forename: L
authors.initials: L
authors.lastname: Marcato
authors.forename: S
authors.initials: S
authors.lastname: Serero
authors.forename: P
authors.initials: P
authors.lastname: Clement
authors.forename: P
authors.initials: P
authors.lastname: Bouhanna
authors.forename: E
authors.initials: E
authors.lastname: Rouleau
authors.forename: B
authors.initials: B
authors.lastname: Grimi
authors.forename: J
authors.initials: J
authors.lastname: Selva
authors.forename: E
authors.initials: E
authors.lastname: Gaetani
authors.forename: F
authors.initials: F
authors.lastname: Maggi
authors.forename: A
authors.initials: A
authors.lastname: Joseph
authors.forename: B
authors.initials: B
authors.lastname: Benzacken
authors.forename: F R
authors.initials: FR
authors.lastname: Grati
mesh_terms: D000328:Adult; D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics*; D017218:Cordocentesis; D004247:DNA / Q000032:analysis; D005260:Female; D005312:Fetal Blood; D017353:Gene Deletion; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism; D011237:Predictive Value of Tests; D011296:Prenatal Diagnosis / Q000191:economics / Q000379:methods*; D011446:Prospective Studies; D012189:Retrospective Studies
chemical_list: D004247:DNA