title: Double-factor preimplantation genetic diagnosis: monogenic and cytogenetic diagnoses analyzing a single blastomere.
abstract: OBJECTIVE
  Enhancing implantation rates in preimplantation genetic diagnosis (PGD) cycles is still a challenging aspect to address. As aneuploidy can be one of the factors influencing the low implantation rates obtained, the aim of this work was to combine monogenic analysis with comprehensive aneuploidy screening (double factor) in order to transfer the selected (healthy and euploid) embryos in the same in-vitro fertilization (IVF) cycle.
  
  
  METHODS
  In the present double-factor PGD (DF-PGD) approach, a single blastomere was biopsied from each embryo, and the whole genome amplification DNA product obtained was successfully used for both monogenic analysis and metaphase comparative genomic hybridization cytogenetic screening. The developed DF-PGD was applied to 62 embryos from seven families at risk for monogenic-inherited diseases in a total of seven IVF-DF-PGD cycles.
  
  
  RESULTS
  While 68.2% of the diagnosed embryos were healthy for the monogenic diseases, only 43.3% of them were chromosomally normal considering aneuploidies and/or segmental chromosome imbalances. Six out of seven families had transferrable embryos according to DF-PGD results. Two healthy babies were born from the 11 selected embryo transfers.
  
  
  CONCLUSIONS
  In families at risk for monogenic diseases, the DF-PGD is a useful tool to select healthy and potentially viable embryos for transfer, according to their chromosome complement.
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Barcelona, Spain.|Càtedra de Recerca Eugin-UAB, Barcelona, Spain.
authors.forename: Gemma
authors.initials: G
authors.lastname: Daina
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Laia
authors.initials: L
authors.lastname: Ramos
authors.affiliation: Càtedra de Recerca Eugin-UAB, Barcelona, Spain.|Clínica Eugin, Barcelona, Spain.
authors.forename: Albert
authors.initials: A
authors.lastname: Obradors
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Mariona
authors.initials: M
authors.lastname: Rius
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Barcelona, Spain.|Càtedra de Recerca Eugin-UAB, Barcelona, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: del Rey
authors.affiliation: Fundació Puigvert Hospital de Sant Pau i de la Santa Creu, Barcelona, Spain.
authors.forename: Olga
authors.initials: O
authors.lastname: Martinez-Pasarell
authors.affiliation: Clínica Eugin, Barcelona, Spain.
authors.forename: Aida
authors.initials: A
authors.lastname: Pujol
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Barcelona, Spain.|Càtedra de Recerca Eugin-UAB, Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Benet
authors.affiliation: Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Barcelona, Spain.|Càtedra de Recerca Eugin-UAB, Barcelona, Spain.
authors.forename: Joaquima
authors.initials: J
authors.lastname: Navarro Ferreté
mesh_terms: D000328:Adult; D001757:Blastomeres; D020732:Cytogenetic Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*