title: Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease.
abstract: OBJECTIVE
  To investigate the applicability of next-generation sequencing (NGS) to preimplantation genetic diagnosis (PGD); to evaluate semiconductor-based NGS for genetic analysis of human embryos.
  
  
  METHODS
  Blinded.
  
  
  METHODS
  Academic center for reproductive medicine.
  
  
  METHODS
  Six couples at risk of transmitting single-gene disorders to their offspring.
  
  
  METHODS
  None.
  
  
  METHODS
  Embryonic genotype consistency of NGS with two independent conventional methods of PGD.
  
  
  RESULTS
  NGS provided 100% equivalent PGD diagnoses of compound point mutations and small deletions and insertions compared with both reference laboratory- and internally developed quantitative polymerase chain reaction (qPCR)-based analyses. Furthermore, NGS single-gene disorder screening could be performed in parallel with qPCR-based comprehensive chromosome screening.
  
  
  CONCLUSIONS
  NGS can provide blastocyst PGD results with a high level of consistency with established methodologies. This study and its design could serve as a model for further development of this important and emerging technology.
authors: Reproductive Medicine Associates of New Jersey, Morristown, NJ 07960, USA. ntreff@rmanj.com
authors: Nathan R
authors: NR
authors: Treff
authors: Anastasia
authors: A
authors: Fedick
authors: Xin
authors: X
authors: Tao
authors: Batsal
authors: B
authors: Devkota
authors: Deanne
authors: D
authors: Taylor
authors: Richard T
authors: RT
authors: Scott
mesh_terms: D000782:Aneuploidy; D001755:Blastocyst / Q000502:physiology*; D005260:Female; D005307:Fertilization in Vitro; D017353:Gene Deletion; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D011237:Predictive Value of Tests; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D012307:Risk Factors