滋养层细胞活检法分析人废弃胚胎源性囊胚发育与染色体异常

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目的:探讨年龄、卵裂期胚胎碎片、囊胚生长速率与形态对染色体异常的影响。方法:收集226例患者授精培养后第3日不适于移植和冷冻的正常受精来源的废弃胚胎988枚,激光辅助打孔后,依年龄和胚胎碎片比率分组序贯培养至囊胚期。待第5~7日囊胚形成且滋养外胚层细胞脱出2~9个时活检,同时评估囊胚生长速率与形态;机械法分离活检后存活囊胚的内细胞团细胞,应用13q14.2,21q22.13特异位点探针行FISH检测,分析染色体异常发生情况。结果:FISH检测99枚囊胚,其中58枚(58.6%)存在染色体异常;当患者年龄≥35岁时,其囊胚染色体异常风险增高;尤其胚胎碎片比率>25%者,形成的囊胚形态较差且染色体异常程度复杂(P<0.05)。随囊胚生长速率的延缓与形态分级的降低,染色体异常发生率增高。滋养层细胞活检后囊胚均存活,在分离内细胞团的36枚囊胚中,滋养层与内细胞团细胞的FISH荧光信号吻合率为91.7%。结论:体外受精治疗周期部分废弃胚胎可发育至囊胚,但由于受年龄、胚胎碎片等因素影响,囊胚染色体异常率较高,可能导致胚胎发育延迟且囊胚形态较差;FISH检测囊胚滋养外胚层细胞法可评估胚胎的染色体组成。 Objective: To investigate the effects of age, cleavage embryo fragments, blastocyst growth rate and morphology on chromosomal abnormalities. Methods: A total of 988 normal embryos were collected from 226 patients who were unsuccessfully transplanted and frozen on the third day after laser inoculation. After laser-assisted drilling, the blastocysts were divided into groups according to the age and embryo fragment ratio. To be 5-7 days blastocyst formation and trophectoderm cells prolapse 2-9 biopsies, and to assess the rate of blastocyst growth and morphology; mechanical separation of biopsy survival of blastocysts after the inner cell mass, using 13q14.2, 21q22.13 specific site probe FISH detection, analysis of chromosomal abnormalities. Results: FISH detected 99 blastocysts, of which 58 (58.6%) had chromosomal abnormalities. When the patients were over 35 years old, the risk of chromosomal abnormalities in blastocysts was increased. Especially, the blastocyst morphology Poor and chromosomal abnormalities were complicated (P <0.05). With the slow down of the growth rate of blastocysts and morphological classification, the incidence of chromosomal abnormalities increased. Trophoblast blastocysts survived after biopsy. In 36 blastocysts isolated from inner cell mass, the coincidence rate of FISH fluorescence signals between trophoblast and inner cell mass cells was 91.7%. Conclusion: Partially abandoned embryos can develop into blastocysts during in vitro fertilization cycles. However, due to age and embryo fragmentation, the blastocyst abnormality rate may lead to delayed embryo development and poor blastocyst morphology. FISH detection of blastocysts The trophectoderm cell method can assess the chromosomal composition of embryos.
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