Pujol Aïda, Benet Jordi, Staessen Catherine, Van Assche Elvire, Campillo Mercedes, Egozcue Josep, Navarro Joaquima
Departament de Biologia Cellular, Fisiologia i Immunologia, Unitat de Biologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Reproduction. 2006 Jun;131(6):1025-35. doi: 10.1530/rep.1.01063.
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.
本研究的目的是调查非相互易位染色体的非整倍体率和嵌合现象。对来自8名女性和5名男性相互易位携带者的126个胚胎的固定卵裂球进行非整倍体筛查（AS）（13、16、18、21和22号染色体），这些胚胎在植入前基因诊断（PGD）周期中未成功妊娠。91.3%的胚胎成功完成AS诊断；在所分析的5条染色体中，30.9%为整倍体，60.3%为非整倍体。在这些胚胎中，8.7%的胚胎AS为整倍体且易位为正常平衡型，22.2%的胚胎AS为整倍体但易位为不平衡型；8%的胚胎AS为非整倍体但易位为正常平衡型，52.4%的胚胎AS为非整倍体且易位也为不平衡型。至少58.7%的胚胎在涉及和未涉及易位的染色体嵌合方面存在嵌合现象。PGD周期中移植的16个胚胎中有6个在AS研究中为非整倍体；其中4个也是嵌合体。在PGD中进行分离分析后，应在相互易位携带者中进行AS检测。
