title: Comprehensive preimplantation genetic screening and sperm deoxyribonucleic acid fragmentation from three males carrying balanced chromosome rearrangements.
abstract: OBJECTIVE
  To assess whether preimplantation genetic screening can successfully identify cytogenetically normal embryos in couples carrying balanced chromosome rearrangements in addition to increased sperm DNA fragmentation.
  
  
  METHODS
  Comprehensive preimplantation genetic screening was performed on three couples carrying chromosome rearrangements. Sperm DNA fragmentation was assessed for each patient.
  
  
  METHODS
  Academic center.
  
  
  METHODS
  One couple with the male partner carrying a chromosome 2 pericentric inversion and two couples with the male partners carrying a Robertsonian translocation (13:14 and 14:21, respectively).
  
  
  METHODS
  A single blastomere from each of the 18 cleavage-stage embryos obtained was analysed by metaphase comparative genomic hybridization. Single- and double-strand sperm DNA fragmentation was determined by the alkaline and neutral Comet assays.
  
  
  METHODS
  Single- and double-strand sperm DNA fragmentation values and incidence of chromosome imbalances in the blastomeres were analyzed.
  
  
  RESULTS
  The obtained values of single-strand sperm DNA fragmentation were between 47% and 59%, and the double-strand sperm DNA fragmentation values were between 43% and 54%. No euploid embryos were observed in the couple showing the highest single-strand sperm DNA fragmentation. However, euploid embryos were observed in the other two couples: embryo transfer was performed, and pregnancy was achieved by the couple showing the lowest sperm DNA fragmentation values.
  
  
  CONCLUSIONS
  Preimplantation genetic screening enables the detection of euploid embryos in couples affected by balanced chromosome rearrangements and increased sperm DNA fragmentation. Even though sperm DNA fragmentation may potentially have clinical consequences on fertility, comprehensive preimplantation genetic screening allows for the identification and transfer of euploid embryos.
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, Bellaterra, Spain.
authors.forename: Laia
authors.initials: L
authors.lastname: Ramos
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, Bellaterra, 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, Bellaterra, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: Del Rey
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, Bellaterra, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Ribas-Maynou
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, Bellaterra, Spain.
authors.forename: Alba
authors.initials: A
authors.lastname: Fernández-Encinas
authors.affiliation: Fundació Puigvert, Hospital de Sant Pau i de la Santa Creu, Barcelona, Spain.
authors.forename: Olga
authors.initials: O
authors.lastname: Martinez-Passarell
authors.affiliation: Institut Universitari Dexeus, Barcelona, Spain.
authors.forename: Montserrat
authors.initials: M
authors.lastname: Boada
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, Bellaterra, 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, Bellaterra, Spain. Electronic address: Joaquima.Navarro@uab.cat.
authors.forename: Joaquima
authors.initials: J
authors.lastname: Navarro
mesh_terms: D000328:Adult; D001757:Blastomeres; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D002891:Chromosomes, Human, Pair 21; D020552:Comet Assay; D053938:DNA Fragmentation; D010064:Embryo Implantation; D004624:Embryo Transfer; D005260:Female; D005298:Fertility / Q000235:genetics*; D005307:Fertilization in Vitro; D015321:Gene Rearrangement; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D008297:Male; D011237:Predictive Value of Tests; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D013030:Spain; D013094:Spermatozoa / Q000473:pathology*; D014178:Translocation, Genetic; D016896:Treatment Outcome
keywords: Aneuploidy; Robertsonian translocation; pericentric inversion; preimplantation genetic diagnosis/screening; sperm DNA fragmentation