title: Application of a new molecular technique for the genetic evaluation of products of conception.
abstract: OBJECTIVE
  Karyotyping is a well-established method of investigating the genetic content of product of conceptions (POCs). Because of the high rate of culture failure and maternal cell contamination, failed results or 46,XX findings are often obtained. Different molecular approaches that are not culture dependent have been proposed to circumvent these limits. On the basis of the robust experience previously obtained with bacterial artificial chromosomes (BACs)-on-Beads™ (BoBs™), we evaluated the same technology that we had used for the analysis of prenatal samples on POCs.
  
  
  METHODS
  KaryoLite™ BoBs™ includes 91 beads, each of which is conjugated with a composite of multiple neighboring BACs according to the hg19 assembly. It quantifies proximal and terminal regions of each chromosome arm. The study included 376 samples.
  
  
  RESULTS
  The failure rate was 2%, and reproducibility >99%; false-positive and false-negative rates were <1% for non-mosaic aneuploidies and imbalances effecting all three BACs in a contig. Detection rate for partial terminal imbalances was 65.5%. The mosaic detection threshold was 50%, and the success rate in macerated samples was 87.8%. The aneuploidy detection rate in samples with cell growth failure was 27.8%, and maternal cell contamination was suspected in 23.1% of 46,XX cultured cells.
  
  
  CONCLUSIONS
  KaryoLite™ BoBs™ as a 'first-tier' test in combination with other approaches showed beneficial, cost-effective and clearly enhanced POC testing.
authors.affiliation: Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays, Busto Arsizio, Varese, Italy. fgrati@tomalab.com
authors.forename: Francesca R
authors.initials: FR
authors.lastname: Grati
authors.forename: Denise Molina
authors.initials: DM
authors.lastname: Gomes
authors.forename: Devika
authors.initials: D
authors.lastname: Ganesamoorthy
authors.forename: Livia
authors.initials: L
authors.lastname: Marcato
authors.forename: Simona
authors.initials: S
authors.lastname: De Toffol
authors.forename: Eleonore
authors.initials: E
authors.lastname: Blondeel
authors.forename: Francesca
authors.initials: F
authors.lastname: Malvestiti
authors.forename: Laurence
authors.initials: L
authors.lastname: Loeuillet
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Ruggeri
authors.forename: Robert
authors.initials: R
authors.lastname: Wainer
authors.forename: Federico
authors.initials: F
authors.lastname: Maggi
authors.forename: Azzedine
authors.initials: A
authors.lastname: Aboura
authors.forename: Celine
authors.initials: C
authors.lastname: Dupont
authors.forename: Anne Claude
authors.initials: AC
authors.lastname: Tabet
authors.forename: Fabien
authors.initials: F
authors.lastname: Guimiot
authors.forename: Howard R
authors.initials: HR
authors.lastname: Slater
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Simoni
authors.forename: François
authors.initials: F
authors.lastname: Vialard
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000465:Algorithms; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000196:embryology*; D022202:Chromosomes, Artificial, Bacterial; D020732:Cytogenetic Analysis; D005260:Female; D005333:Fetus / Q000737:chemistry; D006801:Humans; D007621:Karyotyping; D008863:Microspheres; D010920:Placenta / Q000737:chemistry; D011247:Pregnancy; D015203:Reproducibility of Results; D012189:Retrospective Studies