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对严重少弱精子症不育夫妇的单个精子细胞进行染色体分析:一项横断面前瞻性研究。

Chromosomal analysis of single sperm cells from infertile couples with severe oligoteratozoospermia: A cross-sectional prospective study.

机构信息

Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

出版信息

PLoS One. 2024 Jun 14;19(6):e0303350. doi: 10.1371/journal.pone.0303350. eCollection 2024.

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,我们使用先进的下一代测序技术,比较了严重少精子症(即精子数量和活力低)的不孕夫妇和正常精液的不孕夫妇的个体精子细胞的分子核型。2023 年 1 月至 11 月,我们从泰国曼谷 Ramathibodi 医院招募了 14 对不孕夫妇,根据精液分析结果将他们分为两组。研究组由严重少精子症的夫妇组成,而对照组则表现为正常精液。通过显微操作技术从精液样本中分离出单个精子细胞,随后进行全基因组扩增和下一代测序,主要结果是非整倍体率。有 90%的成功率分离出 70 个精子细胞进行扩增。下一代测序结果显示,研究组的非整倍体率为 25%-75%,平均为 48.28%。相比之下,对照组的非整倍体率为 0-75%,平均为 15.15%。两组之间的差异具有统计学意义(比值比:5.8,95%置信区间:1.30-26.03)。即使通过显微操作选择了正常形态的精子细胞,研究组的精子细胞也显示出高出三倍的非整倍体率。建议进行全面咨询,以解决潜在的高于一般不孕人群的高非整倍体率问题。还建议进行胚胎植入前遗传学检测,以确保转移正常染色体的胚胎。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1765/11178158/22d96c2f61cd/pone.0303350.g001.jpg

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