title: Informatics enhanced SNP microarray analysis of 30 miscarriage samples compared to routine cytogenetics.
abstract: OBJECTIVE
  The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype.
  
  
  METHODS
  Patients undergoing dilation and curettage for first trimester miscarriage between February and August 2010 were enrolled. Samples of chorionic villi were equally divided and sent for microarray testing in parallel with routine cytogenetic testing.
  
  
  RESULTS
  Thirty samples were analyzed, with only four discordant results. Discordant results occurred when the entire genome was duplicated or when a balanced rearrangement was present. Cytogenetic karyotyping took an average of 29 days while microarray-based karytoyping took an average of 12 days.
  
  
  CONCLUSIONS
  Molecular karyotyping of POC after missed abortion using SNP microarray analysis allows for the ability to detect maternal cell contamination and provides rapid results with good concordance to standard cytogenetic analysis.
authors.affiliation: Stanford Fertility and Reproductive Medicine Center, Palo Alto, California, United States of America. rlathi@stanford.edu
authors.forename: Ruth B
authors.initials: RB
authors.lastname: Lathi
authors.forename: Jamie A M
authors.initials: JA
authors.lastname: Massie
authors.forename: Megan
authors.initials: M
authors.lastname: Loring
authors.forename: Zachary P
authors.initials: ZP
authors.lastname: Demko
authors.forename: David
authors.initials: D
authors.lastname: Johnson
authors.forename: Styrmir
authors.initials: S
authors.lastname: Sigurjonsson
authors.forename: George
authors.initials: G
authors.lastname: Gemelos
authors.forename: Matthew
authors.initials: M
authors.lastname: Rabinowitz
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D002877:Chromosomes, Human / Q000235:genetics; D015331:Cohort Studies; D019295:Computational Biology / Q000379:methods*; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D059785:Karyotype; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000235:genetics; D011446:Prospective Studies