PDF(Pubmed)
Abstract：
In this cross-sectional prospective study, advanced next-generation sequencing technology was used to compare the molecular karyotyping of individual human sperm cells in infertile couples with severe oligoteratozoospermia (i.e., low sperm count and motility) to those of infertile couples with normal semen. Fourteen infertile couples who were patients at Ramathibodi Hospital in Bangkok, Thailand, were recruited from January to November 2023, and they were categorized into two groups based on semen analysis results. The study group comprised couples with severe oligoteratozoospermia, whereas the control group exhibited normal semen. Individual sperm cells from the semen samples were isolated by the micromanipulation technique for subsequent whole-genome amplification and next-generation sequencing, where the primary outcome was the aneuploidy rate. Seventy individual sperm cells were isolated with a 90% success rate for amplification. The next-generation sequencing results showed that the aneuploidy rate was 25%-75%, with a mean of 48.28% in the study group. In contrast, the control group exhibited aneuploidy rates of 0-75%, with a mean of 15.15%. The difference between the two groups was statistically significant (odds ratio: 5.8, 95% confidence interval: 1.30-26.03). Sperm cells of the study group showed a threefold higher aneuploidy rate than those in the control group, even though the sperm cells were selected by micromanipulation for their normal morphology. Comprehensive counseling is recommended to address elevated aneuploidy rates that potentially surpass those of the general infertile population. Guidance on preimplantation genetic testing is also recommended to ensure the transfer of embryos with normal chromosomes.
摘要：
在这项横断面前瞻性研究中，先进的下一代测序技术用于比较患有严重寡精子症的不育夫妇中单个人类精子细胞的分子核型分析（即，精子数量和运动性低）与精液正常的不育夫妇。曼谷Ramathibodi医院的14对不育夫妇，泰国,他们于2023年1月至11月招募,根据精液分析结果分为两组.该研究组包括患有严重的寡精子症的夫妇，对照组精液正常。通过显微操作技术从精液样品中分离出单个精子细胞，用于随后的全基因组扩增和下一代测序，其中主要结果是非整倍体率。分离出70个单独的精子细胞，扩增成功率为90％。下一代测序结果显示,非整倍体率为25%-75%,研究组的平均值为48.28%。相比之下,对照组表现出0-75%的非整倍体率，均值为15.15%。两组间差异有统计学意义(比值比:5.8,95%置信区间:1.30-26.03)。研究组精子细胞的非整倍体率比对照组高三倍，即使通过显微操作选择了正常形态的精子细胞。建议进行全面的咨询，以解决可能超过一般不育人群的非整倍体率升高的问题。还建议对植入前基因检测进行指导，以确保具有正常染色体的胚胎转移。
