冻融胚胎植入前遗传学筛查的研究

Study on cryopreservated embryos for preimplantation genetic screening

目的：对冻融胚胎进行植入前遗传学筛查和分析。方法：将2007~2009年冻存的42枚正常胚胎解冻,应用荧光原位杂交（FISH）技术对所有活检的卵裂球行18及X/Y染色体筛查,并分析胚胎染色体异常的影响因素。结果：活检成功率为92.8%,固定成功率为82.62%,杂交成功率为92.78%。正常受精胚胎中染色体异常率为35.90%,包括非整倍体、多倍体、单倍体和嵌合体等异常。随胚胎提供者年龄增长,Gn用量增加,非整倍体发生的几率也增加（P〈0.05）。受精方式、超排方案和Gn使用天数与染色体异常的发生无关（均P〉0.05）。结论：FISH是对胚胎进行特定染色体非整倍体筛查的一种行之有效的方法。胚胎解冻、高龄、Gn用量会影响非整倍体的发生。

Objective： To explore chromosome abnormalities of cryopreserved embryos with preimplantation genetic screening.Methods： Abnormalities of Chromosome 18,X and Y of forty-two embryos cryopreserved between 2007 and 2009 were evaluated with fluorescence in situ hybridization（FISH）.Factors related were analyzed.Results： About 92.80% of the embryos were biopsied,82.62% of the blastomeres were fixed and 92.78% were hybridized successfully.Numeric chromosomal aberrations were found in 35.90% of normal fertilized embryos,including aneuploidy,polyploidy,haploidy,and mosaic.There was a tendency for aneuploidy to increase with maternal age and the dosage of gonadotrophin（Gn）（P0.05）.Chromosome abnormalities were not related to the pattern of fertilization and controlled ovarian hyperstimulation as well as the duration of Gn use（P all 0.05）.Conclusion： FISH is a more efficient method for study on specific aneuploidy in human embryos.The occurrence of aneuploidy is relevant to unfreezing embryos,advancing maternal age and higher doses of Gn.