近日，浙江大学医学院Hefeng Huang团队报道了对接受卵母细胞胞浆内单精子注射治疗严重男性不育的夫妇进行植入前非整倍体基因检测与无基因检测的效果。2025年12月23日出版的《英国医学杂志》发表了这项成果。

为了评估非整倍体植入前基因检测（PGT-A）与单独卵胞浆内单精子注射（ICSI）在因严重男性不育而接受ICSI治疗的夫妇中的疗效，研究组在全国四家生殖医学中心进行了一项多中心、开放标签、随机对照试验，共450对计划行ICSI的严重男性因素不孕症夫妇（每组225对）随机（1:1）接受PGT-A或不接受PGT-A。PGT-A组囊胚移植前ICSI进行基因检测，无PGT-A组ICSI不进行基因检测。主要结局是首次胚胎移植后的活产和随机分组后12个月内的累计活产（最多3个移植周期）。初步分析基于意向-治疗原则。

在2018年7月15日至2023年1月6日期间，1347对筛查夫妇中有450对知情同意，并随机分为干预组、含PGT-A的ICSI组（n=225）和不含额外基因检测的ICSI组（n=225）。在首次胚胎移植后，总共有109对夫妇（48.4%）和104对夫妇（46.2%）在PGT-A组中活产（优势比1.09(95%可信区间（CI） 0.76 ~ 1.58)， P=0.64）。每名妇女的累计活产率在PGT-A组和无PGT-A组分别为60.4%（136/225）和60.9% (137/225)（0.98 (0.67 ~ 1.43)，P=0.92）。PGT-A组首次胚胎移植后的流产率（13例（5.8%）vs43例（19.1%））和累计流产率（25例（11.1%）vs51例（22.7%），0.43例（0.25 ~ 0.72），P=0.001）显著低于未加PGT-A组。

研究结果表明，与单纯ICSI相比，PGT-A不能提高严重男性不育症ICSI患者的活产率，但能降低妊娠丢失率。

附：英文原文

Title: Preimplantation genetic testing for aneuploidy versus no genetic testing in couples undergoing intracytoplasmic sperm injection for severe male infertility: multicentre, open label, randomised controlled trial

Author: Xianhua Lin, Dandan Wu, Chen Zhang, Lulu Wang, Yao Lu, Ping Zhou, Chengliang Zhou, Li Jin, Li Wang, Hong Zhu, Jiexue Pan, Chenming Xu, Songchang Chen, Ling Gao, Lu Li, Songying Zhang, Yanting Wu, Yun Sun, Ben W Mol, Hefeng Huang

Issue&Volume: 2025/12/23

Abstract:

Objective To assess the efficacy of preimplantation genetic testing for aneuploidies (PGT-A) compared to intracytoplasmic sperm injection (ICSI) alone in couples undergoing ICSI treatment because of severe male infertility.

Design Multicentre, open label, randomised controlled trial.

Setting Four reproductive medicine centres across China.

Participants 450 couples with severe male factor infertility scheduled for ICSI were randomly assigned (1:1) to undergo PGT-A or not (225 couples in each group).

Interventions ICSI with genetic testing of blastocysts before transfer in the PGT-A group, and ICSI without genetic testing for the no PGT-A group.

Main outcome measures Primary outcomes were live birth after the first embryo transfer and cumulative live birth (up to three transfer cycles) within 12 months after randomisation. Primary analysis was based on intention-to-treat principle.

Results Between 15 July 2018 and 6 January 2023, 450 of 1347 screened couples gave informed consent and were randomised to the intervention, ICSI with PGT-A (n=225), or ICSI with no additional genetic testing (n=225). In total, 109 couples in the PGT-A group (48.4%) and 104 couples in the no PGT-A group (46.2%) had a live birth after the first embryo transfer (odds ratio 1.09 (95% confidence interval (CI) 0.76 to 1.58), P=0.64). The cumulative live birth rates per woman were 60.4% (136/225) and 60.9% (137/225) in the PGT-A and no PGT-A groups, respectively (0.98 (0.67 to 1.43), P=0.92). The PGT-A group had significantly lower rates of pregnancy loss after the first embryo transfer (13 (5.8%) PGT-A group v 43 (19.1%) no PGT-A group, 0.26 (0.14 to 0.50), P<0.001) and cumulative pregnancy loss (25 (11.1%) v 51 (22.7%), 0.43 (0.25 to 0.72), P=0.001) than the no PGT-A group.

Conclusion PGT-A did not improve live birth rates in ICSI for severe male infertility compared to ICSI alone, but reduced rates of pregnancy loss.

DOI: 10.1136/bmj-2025-084050

Source: https://www.bmj.com/content/391/bmj-2025-084050