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具有染色体马赛克主义的人类胚胎明显的形态动力学签名

Margarita Ruseva¹, Sophia Zlatanova², Stefka Nikolova²

¹Research Department, Nadezhda Women's Health Hospital, 1373 Sofia, Bulgaria.

|November 27, 2025

概括

胚胎中的染色体马赛克表现出早期发育的延迟,但以后的里程碑是正常的,与呈现在整个发育过程中显著延迟的无胚胎胚胎不同. 这一发现有助于理解胚胎发育和PGT-A结果.

科学领域:

胚胎学和生殖遗传学
遗传学和基因组学遗传学和基因组学
辅助生殖技术辅助生殖技术

背景情况:

人类胚胎囊中的染色体马赛克主义,通过植入前遗传测试 (PGT-A) 确定形积分症, presents一个诊断挑战.
了解马赛克胚胎的发育轨迹对于改善试管婴儿结果和遗传咨询至关重要.

研究的目的:

调查胚胎囊中的染色体马赛克是否与独特的形态动力学特征有关.
使用时隔成像来区分欧体,马赛克体和无体胚胎的发育模式.

主要方法:

182个人类胚胎接受了托菲克托皮活检和PGT-A的下一代测序,将它们分类为euploid (n=55),mosaic (n=39) 或aneuploid (n=88).
胚胎在时间缩短系统 (EmbryoScope) 中培养,分析了12个形态动力学参数,包括前核色 (tPNf),裂变时间 (t2-t9),毛囊形成 (tM),爆发开始 (tSB) 和完全胚芽细胞形成 (tB).
在ploidy组之间统计比较了形态动力学参数.

主要成果:

马赛克胚胎,特别是低等级的马赛克胚胎,与欧体胚胎相比,表现出延迟的前核色 (tPNf) 和初始裂变 (t2).
全染色体马赛克主义与胚胎发育延迟在中间裂变阶段 (t3,t4,t6,t7,t9) 相关.
体胚胎,特别是具有并发马赛克的胚胎,与体胚胎相比,在后期阶段 (t7,t8,tM,tB) 显示出显著的发育延迟.

结论:

马赛克胚胎表现出早期的发育延迟,但以与欧体胚胎相似的速度实现后期的形态动力学里程碑.
体胚胎,特别是具有马赛克的胚胎,在晚期表现出明显的发育延迟,这表明对发育的影响更为严重.
形态动力学分析可能有助于区分与胚胎不同染色体状态相关的发育模式.

关键词:

形态动力学参数形态动力学参数马赛克胚胎马赛克胚胎下一代测序 (NGS) 是指下一代的测序.在植入前对阳积体的基因检测 (PGT-A)时间间隔监控 (TLM)

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