Department of Gynecology and Reproduction, Clinic "IVF-Riga" , Riga , Latvia.
Genetic laboratory, Clinic "IVF-Riga" , Riga , Latvia.
Gynecol Endocrinol. 2019;35(sup1):18-23. doi: 10.1080/09513590.2019.1632091.
The aim of this study was to analyze differences in chromosomal aberrations and euploidy in embryos of each translocation type and gender of carrier in the case series of 10 couples with balanced translocations who underwent IVF with embryos trophectoderm (TE) biopsy and PGT-A to detect chromosomal aberrations. This is a Case Series (Retrospective study). In each case, controlled ovarian hyperstimulation, oocyte insemination with intracytoplasmic sperm injection (ICSI) and cultivation gave multiple blastocysts, that underwent trophectoderm (TE) biopsy with PGT-A analysis using aCGH and NGS. Number of total unbalanced translocations compared to the number of sporadic aneuploid embryos was 39.6% to 39.6% (50% to 50% of all 37 aneuploid embryos). The highest euploidy rate was in male carrier group - 26.7% and the lowest in the Robertsonian translocation carrier group - 18.2%. Sporadic aneuploidy - 68.2% was highest in Robertsonian translocation carrier group and lowest in female group - 11.1%. Chromosomal aberrations related to translocation were highest in female carrier group - 77.8% and lowest in Robertsonian translocation carrier group - 13.6%. Our study showed that expectancy of total embryo aneuploidy rates will be higher in carriers, than in people with normal karyotype. The prevalence of chromosomal aberrations related to translocation was 4.5 times higher in Reciprocal carrier group than in Robertsonian translocation carrier group. Among maternal and paternal carrier groups, the embryos from female carriers had the lowest euploidy rate, unbalanced translocation rate 4.7 times higher than in the male carrier group and higher total aneuploidy rates.
本研究旨在分析 10 对平衡易位携带者行体外受精（IVF）联合胚胎滋养外胚层（TE）活检和 PGT-A 检测染色体异常的病例系列中，不同易位类型和携带者性别胚胎的染色体畸变和整倍体差异。这是一项病例系列（回顾性研究）。在每个病例中，控制性卵巢超排卵、卵胞浆内单精子注射（ICSI）受精和培养均获得多个囊胚，通过 PGT-A 分析进行 TE 活检，使用 aCGH 和 NGS。总非平衡易位数与散发非整倍体胚胎数之比为 39.6%至 39.6%（37 个非整倍体胚胎的 50%至 50%）。男性携带者组的整倍体率最高，为 26.7%，罗氏易位携带者组最低，为 18.2%。散发非整倍体率在罗氏易位携带者组最高，为 68.2%，在女性组最低，为 11.1%。与易位相关的染色体异常在女性携带者组最高，为 77.8%，在罗氏易位携带者组最低，为 13.6%。本研究表明，与正常核型个体相比，易位携带者胚胎的总非整倍体率预期更高。与罗氏易位携带者组相比，相互易位携带者组与易位相关的染色体异常发生率高 4.5 倍。在母系和父系携带者组中，女性携带者胚胎的整倍体率最低，非平衡易位率比男性携带者组高 4.7 倍，总非整倍体率也更高。
