Ma Xiaoling, Xu Xiaojuan, Mao Bin, Liu Hongfang, Li Hongxing, Liu Kun, Song Dexiao, Xue Shilong, Wang Naihui
The Reproductive Medicine Hospital of the First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Key Laboratory of Reproductive Medicine and Embryo of Gansu Province, Lanzhou, China.
Mol Reprod Dev. 2021 May;88(5):362-370. doi: 10.1002/mrd.23469. Epub 2021 Mar 29.
We aimed to use next generation sequencing (NGS) to investigate chromosomal abnormalities in blastocyst trophectoderm (TE) samples, and reproductive outcomes with the different types of chromosomal rearrangements (CR) and for each sex of CR carrier. A total of 1189 blastocyst TE samples were evaluated using NGS to detect chromosomal unbalanced translocations as well as aneuploidy, including blastocytes from 637 blastocysts from carriers of balanced CR and 552 blastocysts from carriers of normal chromosomes. The optimal embryos had lower chromosomal abnormality rates compared to the poor-quality embryos. The experimental group had significantly reduced rates of normal embryos and euploidy, and higher rates of total abnormalities, aneuploidy and unbalanced chromosomal aberrations. Carriers of reciprocal translocations had a reduced rate of normal embryos and an increased percentage of embryos with total abnormalities and unbalanced chromosomal aberrations compared with carriers of Robertsonian translocations. Couples with female carriers of chromosomal abnormalities had significantly reduced rates of normal embryos and euploidy, and a higher percentage of embryos with total abnormalities, aneuploidy, and unbalanced chromosomal aberrations compared with couples of male carriers. Our preimplantation genetic testing (PGT) study identified higher rates of chromosomal abnormalities, including chromosomal unbalanced translocations and aneuploidy, in blastocysts from CR carriers, especially from the female carriers, in a Chinese population. The PGT cycles successfully improved clinical outcomes by increasing the fertilization rate and reducing the early spontaneous abortion rate compared with the in vitro fertilization and intracytoplasmic sperm injection cycles, especially for CR carriers.
我们旨在使用下一代测序（NGS）技术研究囊胚滋养外胚层（TE）样本中的染色体异常情况，以及不同类型染色体重排（CR）和CR携带者不同性别对应的生殖结局。共使用NGS评估了1189个囊胚TE样本，以检测染色体不平衡易位以及非整倍体，其中包括来自平衡CR携带者的637个囊胚的胚泡和来自正常染色体携带者的552个囊胚的胚泡。与质量较差的胚胎相比，优质胚胎的染色体异常率更低。实验组的正常胚胎和整倍体率显著降低，而总异常、非整倍体和染色体不平衡畸变率更高。与罗伯逊易位携带者相比，相互易位携带者的正常胚胎率降低，总异常和染色体不平衡畸变胚胎的百分比增加。与男性携带者夫妇相比，女性染色体异常携带者夫妇的正常胚胎和整倍体率显著降低，总异常、非整倍体和染色体不平衡畸变胚胎的百分比更高。我们的植入前基因检测（PGT）研究发现，在中国人群中，CR携带者尤其是女性携带者的囊胚中，染色体异常率较高，包括染色体不平衡易位和非整倍体。与体外受精和卵胞浆内单精子注射周期相比，PGT周期通过提高受精率和降低早期自然流产率成功改善了临床结局，尤其是对于CR携带者。
