title: The importance of aneuploidy screening in reciprocal translocation carriers.
abstract: The purpose of this study is to investigate the aneuploidy rate and the mosaicism of chromosomes not involved in reciprocal translocations. Aneuploidy screening (AS) (13, 16, 18, 21 and 22) was performed as a re-analysis on fixed blastomeres from 126 embryos already analysed in preimplantation genetic diagnosis (PGD) cycles of eight female and five male reciprocal translocation carriers who had not achieved a pregnancy. A successful diagnosis for AS was achieved in 91.3% of embryos; 30.9% were euploid and 60.3% were aneuploid for the five chromosomes analysed. Of the embryos, 8.7% were euploid for AS and normal-balanced for the translocation and 22.2% were euploid for AS but unbalanced for the translocation; 8% of the embryos were aneuploid for AS but normal-balanced for the translocation and 52.4% were aneuploid for AS and also unbalanced for the translocation. At least 58.7% of the embryos were mosaic regarding mosaicism for the chromosomes involved and not involved in the translocations. Six of the 16 embryos transferred in the PGD cycles were aneuploid for the AS study; four of them were also mosaics. AS should be performed in reciprocal translocation carriers after segregation analysis in PGD.
authors.affiliation: Departament de Biologia Cellular, Fisiologia i Immunologia, Unitat de Biologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.
authors.forename: Aïda
authors.initials: A
authors.lastname: Pujol
authors.forename: Jordi
authors.initials: J
authors.lastname: Benet
authors.forename: Catherine
authors.initials: C
authors.lastname: Staessen
authors.forename: Elvire
authors.initials: E
authors.lastname: Van Assche
authors.forename: Mercedes
authors.initials: M
authors.lastname: Campillo
authors.forename: Josep
authors.initials: J
authors.lastname: Egozcue
authors.forename: Joaquima
authors.initials: J
authors.lastname: Navarro
mesh_terms: D000782:Aneuploidy; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002885:Chromosomes, Human, Pair 16; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D020732:Cytogenetic Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic