title: The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
abstract: OBJECTIVE
  To develop a novel, rapid prenatal assay for pregnancies with high likelihood of normal karyotypes, using BACs-on-Beads(™) technology, a suspension array-based multiplex assay that employs Luminex(®) xMAP(®) technology, for the detection of gains and losses in chromosomal DNA.
  
  
  METHODS
  Fifteen relatively common microdeletions were selected that are not detectable, or may be missed, by karyotyping and usually do not present with abnormal ultrasound findings. Chromosomes 13, 18, 21, X, and Y were included. We validated the assay with 430 samples.
  
  
  RESULTS
  All microdeletions and aneuploidies were correctly identified, except for a 69,XXX incorrectly identified as a normal female and a male with ∼20% maternal cell contamination (MCC) that could not be distinguished from 69,XXY. MCC became apparent at 20 to 30%. Mosaicism was identified at 30 to 35% abnormal cells.
  
  
  CONCLUSIONS
  We have developed an alternative to fluorescence in situ hybridization (FISH) aneuploidy screening and microarray analysis in otherwise normal pregnancies undergoing invasive testing. We demonstrated that the assay will detect all microdeletions and aneuploidies of regions covered on the assay. We developed analytical software that displays results for well-characterized syndromes but not abnormalities of unclear clinical significance. This assay is likely to be preferred by women seeking testing beyond routine karyotyping but who desire more information than provided by aneuploidy FISH.
authors.affiliation: Signature Genomic Laboratories, Spokane, WA 99207, USA. lisa.shaffer@perkinelmer.com
authors.forename: Lisa G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: Justine
authors.initials: J
authors.lastname: Coppinger
authors.forename: S Annie
authors.initials: SA
authors.lastname: Morton
authors.forename: Sarah
authors.initials: S
authors.lastname: Alliman
authors.forename: Jessica
authors.initials: J
authors.lastname: Burleson
authors.forename: Ryan
authors.initials: R
authors.lastname: Traylor
authors.forename: Cathryn
authors.initials: C
authors.lastname: Walker
authors.forename: Steve
authors.initials: S
authors.lastname: Byerly
authors.forename: Allen N
authors.initials: AN
authors.lastname: Lamb
authors.forename: Roger
authors.initials: R
authors.lastname: Schultz
authors.forename: J Britt
authors.initials: JB
authors.lastname: Ravnan
authors.forename: Catherine D
authors.initials: CD
authors.lastname: Kashork
authors.forename: Beth S
authors.initials: BS
authors.lastname: Torchia
authors.forename: Scott
authors.initials: S
authors.lastname: Sulpizio
authors.forename: Kyle
authors.initials: K
authors.lastname: Sundin
authors.forename: Mack
authors.initials: M
authors.lastname: Schermer
authors.forename: Karl
authors.initials: K
authors.lastname: Adler
authors.forename: Stephanie
authors.initials: S
authors.lastname: Dallaire
authors.forename: Blake C
authors.initials: BC
authors.lastname: Ballif
mesh_terms: D000782:Aneuploidy; D025063:Chromosome Disorders / Q000175:diagnosis*; D005260:Female; D006801:Humans; D046228:Microarray Analysis / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*