title: Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier.
abstract: OBJECTIVE
  To prove the ability to distinguish between balanced and normal chromosomes in embryos from a translocation carrier.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Academic center for reproductive medicine.
  
  
  METHODS
  Woman with a balanced translocation causing Alagille syndrome seeking preimplantation genetic diagnosis (PGD).
  
  
  METHODS
  Blastocyst biopsy for PGD.
  
  
  METHODS
  Consistency of 3 methods of embryo genetic analysis (real-time polymerase chain reaction, single nucleotide polymorphism [SNP] microarray, and fluorescence in situ hybridization [FISH]) and normalcy in the newborn derived from PGD.
  
  
  RESULTS
  PGD was applied to 48 embryos. Real-time polymerase chain reaction, SNP microarray, and FISH demonstrated 100% consistency, although FISH failed to detect aneuploidies observed by comprehensive SNP microarray-based analyses. Two blastocysts were identified to be normal for all 3 factors using SNP microarray technology alone. The 2 normal embryos were transferred back to the patient, resulting in the delivery of a healthy boy with a normal karyotype.
  
  
  CONCLUSIONS
  This is the first report of validation and successful clinical application of microarray-based PGD to distinguish between balanced and normal chromosomes in embryos from a translocation carrier.
authors.affiliation: Reproductive Medicine Associates of New Jersey Research, 111 Madison Avenue, Suite 100, Morristown, NJ 07960, USA. ntreff@rmanj.com
authors.forename: Nathan R
authors.initials: NR
authors.lastname: Treff
authors.forename: Xin
authors.initials: X
authors.lastname: Tao
authors.forename: Wendy J
authors.initials: WJ
authors.lastname: Schillings
authors.forename: Paul A
authors.initials: PA
authors.lastname: Bergh
authors.forename: Richard T
authors.initials: RT
authors.lastname: Scott
authors.forename: Brynn
authors.initials: B
authors.lastname: Levy
mesh_terms: D000328:Adult; D016738:Alagille Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic / Q000235:genetics*