Abstract：Objective To explore the feasibility of the application of preimplantation genetic testing methods based on next-generation sequencing technology in reducing the occurrence of recurrent hydatidiform moles (RHMs).Methods Our study collected three embryos arrested at Day5/Day6 of RHM patients who were treated in our Center for Reproductive Medicine from 2019 to 2021, and among them, one embryo was from patient 1 (RHM1) and two embryos were from patient 2 (RHM2). Single cells of arrested embryos were isolated to perform single-cell DNA amplification, and the amplified products were subjected to next-generation sequencing to analyze the number of heterozygous SNP and CNV to identify the parental origin and ploidy of the embryos' chromosomes. Meanwhile, the amplified products were also subjected to STR genotyping to verify the parental origin of the embryos' chromosomes.Results In patient 1 (RHM1), trisomy for chromosome 8 in the embryo F1 was detected. In the embryo F1 of patient 2 (RHM2), chromosomes 2, 8, 18, and 20 were considered as monosomy, while chromosome 4 was considered as uniparental disomy. Low-depth sequencing can analyze the numbers of heterozygous SNP and the CNV, which can simultaneously evaluate the parental origin and ploidy of embryos' chromosomes, and the relevant results are verified by STR genotyping. That is, low-depth sequencing can analyze the parental origin and ploidy of embryos' chromosomes at the same time, and STR genotyping further verifies the reliability of the next-generation sequencing technology.Conclusion Preimplantation genetic testing could be applied for screening the parental origin and ploidy of embryos' chromosomes based on next-generation sequencing for analyzing the number of heterozygous SNP and CNV. It may be feasible to use these techniques in the prevention of the occurrence of common type of hydatidiform moles.
杨婧祎, 严智强, 刘岩, 闫丽盈, 朱小辉, 李蓉, 刘平, 乔杰, 智旭. 二代测序技术在复发性葡萄胎患者胚胎植入前遗传学检测应用的可行性探讨[J]. 中国生育健康杂志, 2022, 33(6): 501-506.
YANG Jingyi, YAN Zhiqiang, LIU Yan, YAN Liying, ZHU Xiaohui, LI Rong, LIU Ping, QIAO Jie, ZHI Xu. Exploration of the feasibility of applying next-generation sequencing on preimplantation genetic testing for recurrent hydatidiform mole patients. Chinese Journal of Reproductive Health, 2022, 33(6): 501-506.
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