title: Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy.
abstract: BACKGROUND
  This proof-of-principle study demonstrates the usefulness and robustness of a novel array based method for the elucidation of genetic causes underlying early pregnancy loss. A combined microarray utilizing comparative genomic hybridization and single nucleotide polymorphism detection (CGH + SNP) was used for parallel genome-wide identification of copy number and heterozygosity status of 70 products of conception. Results of samples with previously determined aneuploidies were juxtaposed to those of a second cohort appearing normal after routine genetic diagnostics.
  
  
  RESULTS
  All chromosomal imbalances were confirmed, in one sample of the aneuploid panel additional monosomy X was discovered. Genome-wide uniparental disomy causing a complete hydatidiform mole was identified in another sample. No specimen featured microaberrations of obvious clinical relevance. Among cases with presumable euploidy, one microdeletion and a single region of homozygosity were assigned unclear clinical significance.
  
  
  CONCLUSIONS
  The results prove the utility of combined imbalance and homozygosity mapping for routine workup of these challenging specimens. Moreover parallel screening at submicroscopic resolution facilitates the detection of novel genetic alterations underlying spontaneous abortion.
authors.affiliation: synlab Medizinisches Versorgungszentrum Humane Genetik München, Lindwurmstraße 23, D-80337 Munich, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Bug
authors.affiliation: synlab Medizinisches Versorgungszentrum Humane Genetik München, Lindwurmstraße 23, D-80337 Munich, Germany.
authors.forename: Beate
authors.initials: B
authors.lastname: Solfrank
authors.affiliation: synlab Medizinisches Versorgungszentrum Humane Genetik München, Lindwurmstraße 23, D-80337 Munich, Germany.
authors.forename: Felizitas
authors.initials: F
authors.lastname: Schmitz
authors.affiliation: synlab Medizinisches Versorgungszentrum Humane Genetik München, Lindwurmstraße 23, D-80337 Munich, Germany.
authors.forename: Jana
authors.initials: J
authors.lastname: Pricelius
authors.affiliation: synlab Medizinisches Versorgungszentrum Humane Genetik München, Lindwurmstraße 23, D-80337 Munich, Germany.
authors.forename: Mona
authors.initials: M
authors.lastname: Stecher
authors.affiliation: BlueGnome Ltd, An Illumina Company, Cambridge, UK.
authors.forename: Andrew
authors.initials: A
authors.lastname: Craig
authors.affiliation: BlueGnome Ltd, An Illumina Company, Cambridge, UK.
authors.forename: Marc
authors.initials: M
authors.lastname: Botcherby
authors.affiliation: synlab Medizinisches Versorgungszentrum Humane Genetik München, Lindwurmstraße 23, D-80337 Munich, Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Nevinny-Stickel-Hinzpeter
keywords: Aneuploidy; Combined microarray; Early pregnancy loss; Genetic diagnostics; Loss of heterozygosity; Product of conception