title: Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes.
abstract: OBJECTIVE
  To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions.
  
  
  METHODS
  To generate proxies for the various disorders assessed by the assay for analytical validation purposes, cells from ten microdeletion syndromes as well as from common aneuploidies were spiked into cleared amniotic fluid. Genomic DNA was isolated, labeled, and hybridized to microbeads that have been coupled to DNA derived from Bacterial Artificial Chromosome (BAC) from the relevant regions targeted by the array. Beads were read using a flow cytometric multiplex bead array detection system. In the prospective part of the study, 104 amniotic fluid samples were collected and analyzed.
  
  
  RESULTS
  All microdeletion syndromes and aneuploidies were validated in a blinded fashion. In the prospective study, the total number of readable samples was 101 of 104 (97%). All sample results were confirmed independently.
  
  
  CONCLUSIONS
  The bead array approach is a rapid and reliable test for detecting aneuploidies and microdeletions. This assay has the potential to provide the benefit of expanded molecular cytogenetic testing to pregnant women undergoing invasive prenatal diagnosis. This approach may be especially useful in parts of the world where cytogenetic personnel and facilities may be limited.
authors.affiliation: Department of Obstetrics and Gynecology, North Bronx Healthcare Network, Albert Einstein College of Medicine, Bronx, NY, USA. susan.gross@nbhn.net
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Gross
authors.forename: Komal
authors.initials: K
authors.lastname: Bajaj
authors.forename: David
authors.initials: D
authors.lastname: Garry
authors.forename: Susan
authors.initials: S
authors.lastname: Klugman
authors.forename: Barry M
authors.initials: BM
authors.lastname: Karpel
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Roe
authors.forename: Brian J
authors.initials: BJ
authors.lastname: Wagner
authors.forename: Jenny
authors.initials: J
authors.lastname: Zhan
authors.forename: Stephen D
authors.initials: SD
authors.lastname: Apfelroth
authors.forename: Nicole
authors.initials: N
authors.lastname: Schreiber-Agus
mesh_terms: D000782:Aneuploidy; D055028:Comparative Genomic Hybridization / Q000379:methods; D003955:Diagnostic Tests, Routine / Q000379:methods; D004526:Efficiency; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000639:trends; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods* / Q000639:trends; D015203:Reproducibility of Results; D017384:Sequence Deletion; D013577:Syndrome; D013997:Time Factors