title: Outcome of twin babies free of Von Hippel-Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening.
abstract: OBJECTIVE
  To increase the embryo implantation rate, a double-factor preimplantation genetic diagnosis (DF-PGD) was performed, selecting for transfer potentially euploid evolved embryos free of the mutation responsible for Von Hippel-Lindau syndrome (VHL).
  
  
  METHODS
  Case report.
  
  
  METHODS
  Medical university center and a private IVF center.
  
  
  METHODS
  A patient carrier of the R161Q mutation on the VHL gene.
  
  
  METHODS
  After first polar body (1PB) biopsy, it was analyzed using comparative genomic hybridization (1PB-CGH). On day +3, mutation detection using minisequencing and short tandem repeat analysis was performed in multiple displacement amplification products of a single blastomere per embryo.
  
  
  METHODS
  Transfering embryos free of the disease and originating from euploid oocytes.
  
  
  RESULTS
  Nine of the twelve oocytes obtained were successfully analyzed using 1PB-CGH. One of them was aneuploid (1PB #1: 29XX,+2,+10,+12,+17,+19), and the rest were euploid. All of the oocytes were fertilized and became evolved embryos. Six of the embryos were VHL unaffected and had good quality. Five (83%) of them were potentially euploid. According to cytogenetic results, two of the evolved and healthy embryos were transfered, achieving the birth of healthy twin babies.
  
  
  CONCLUSIONS
  The DF-PGD can be a useful tool to increase implantation of transfered embryos in PGD for monogenic diseases.
authors.affiliation: Unitat de Biologia Cellular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. albert.obradors@uab.es
authors.forename: Albert
authors.initials: A
authors.lastname: Obradors
authors.forename: Esther
authors.initials: E
authors.lastname: Fernández
authors.forename: Mariona
authors.initials: M
authors.lastname: Rius
authors.forename: Maria
authors.initials: M
authors.lastname: Oliver-Bonet
authors.forename: Maria
authors.initials: M
authors.lastname: Martínez-Fresno
authors.forename: Jordi
authors.initials: J
authors.lastname: Benet
authors.forename: Joaquima
authors.initials: J
authors.lastname: Navarro
mesh_terms: D000782:Aneuploidy; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D010064:Embryo Implantation; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D005820:Genetic Testing; D006801:Humans; D050498:Live Birth; D018895:Microsatellite Repeats; D009154:Mutation; D009865:Oocytes; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D014427:Twins / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human