title: Rapid aneusomy detection in products of conception using the KaryoLite™ BACs-on-Beads™ assay.
abstract: OBJECTIVE
  Chromosome analysis is the traditional method for detecting genetic abnormalities in products of conception, but it is prone to a high failure rate because of the requirement for cell culture. Molecular genetic tests do not require cell culture, but are either more expensive (e.g. chromosomal microarray) or less sensitive than chromosome analysis (e.g. fluorescence in situ hybridization, multiplex ligation mediated amplification). The KaryoLite™ BACs-on-Beads™ (KL-BoBs™) assay is highly multiplexed with low resolution coverage and is designed to detect aneusomy for any chromosome.
  
  
  METHODS
  We retrospectively tested 100 products of conception samples previously characterized by karyotype (n = 90), and/or microarray (n = 61) using KL-BoBs™. We included samples extracted from either cultured or direct specimens from placental villi or fetal somatic tissue, with a variety of chromosomal abnormalities typically identified in our clinical cytogenetics laboratory.
  
  
  RESULTS
  KL-BoBs™ and microarray results were concordant for all cases of aneusomy. On the basis of a review of 3794 consecutive cases in our laboratory, aneusomy accounts for 74.3% of abnormalities detected. Polyploidy and structural abnormalities were not detected by KL-BoBs™.
  
  
  CONCLUSIONS
  KL-BoBs™ is potentially very useful as a first line test for aneusomy detection because of its lower cost, rapid detection, and ability to generate a molecular karyotype for samples that fail to grow in culture.
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology®, ARUP Laboratories, Salt Lake City, UT, USA. christian.n.paxton@aruplab.com
authors.forename: Christian N
authors.initials: CN
authors.lastname: Paxton
authors.forename: Arthur R
authors.initials: AR
authors.lastname: Brothman
authors.forename: Katherine B
authors.initials: KB
authors.lastname: Geiersbach
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000196:embryology*; D005188:False Negative Reactions; D005260:Female; D005333:Fetus / Q000737:chemistry; D006801:Humans; D007621:Karyotyping; D008297:Male; D046228:Microarray Analysis; D008863:Microspheres; D010920:Placenta / Q000737:chemistry; D011247:Pregnancy; D012189:Retrospective Studies