title: SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts.
abstract: OBJECTIVE
  The purpose of the study is to validate a method that provides the opportunity to distinguish a balanced translocation carrier embryo from a truly normal embryo in parallel with comprehensive chromosome screening (CCS).
  
  
  METHODS
  A series of translocation carrier couples that underwent IVF with single nucleotide polymorphism (SNP) array-based CCS on 148 embryos were included. Predictions of balanced or normal status of each embryo were made based upon embryonic SNP genotypes. In one case, microdeletion status was used to designate whether embryos were balanced or normal. In 10 additional cases, conventional karyotyping was performed on newborns in order to establish the true genetic status (balanced or normal) of the original transferred embryo. Finally, implantation potential of balanced or normal embryos was compared.
  
  
  RESULTS
  Phasing SNPs using unbalanced embryos allowed accurate prediction of whether transferred embryos were balanced translocation carriers or truly normal in all cases completed to date (100 % concordance with conventional karyotyping of newborns). No difference in implantation potential of balanced or normal embryos was observed.
  
  
  CONCLUSIONS
  This study demonstrates the validity of a CCS method capable of distinguishing normal from balanced translocation carrier embryos. The only prerequisite is the availability of parental DNA and an unbalanced IVF embryo, making the method applicable to the majority of carrier couples. In addition, the SNP array platform allows simultaneous CCS for aneuploidy with the same platform and from the same biopsy. Future work will involve prospective predictions to select normal embryos with subsequent karyotyping of the resulting newborns.
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA. ntreff@rmanj.com.|Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA. ntreff@rmanj.com.
authors.forename: Nathan R
authors.initials: NR
authors.lastname: Treff
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA.
authors.forename: Katherine
authors.initials: K
authors.lastname: Thompson
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Rafizadeh
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Chow
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA.
authors.forename: Liza
authors.initials: L
authors.lastname: Morrison
authors.affiliation: Foundation for Embryonic Competence, Basking Ridge, NJ, 07920, USA.
authors.forename: Xin
authors.initials: X
authors.lastname: Tao
authors.affiliation: Foundation for Embryonic Competence, Basking Ridge, NJ, 07920, USA.
authors.forename: Heather
authors.initials: H
authors.lastname: Garnsey
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA.
authors.forename: Christine V
authors.initials: CV
authors.lastname: Reda
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA.
authors.forename: Talia L
authors.initials: TL
authors.lastname: Metzgar
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA.
authors.forename: Shelby
authors.initials: S
authors.lastname: Neal
authors.affiliation: Foundation for Embryonic Competence, Basking Ridge, NJ, 07920, USA.
authors.forename: Chaim
authors.initials: C
authors.lastname: Jalas
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA.|Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
authors.forename: Richard T
authors.initials: RT
authors.lastname: Scott
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA.|Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Forman
mesh_terms: D001755:Blastocyst / Q000166:cytology*; D010064:Embryo Implantation / Q000235:genetics; D004624:Embryo Transfer / Q000379:methods; D004622:Embryo, Mammalian / Q000166:cytology*; D005307:Fertilization in Vitro / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic / Q000235:genetics*
keywords: Microarray; Preimplantation genetic testing; Reciprocal translocation