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从被诊断为非马赛克细分形形胚胎中获得的健康活产

Andria Besser¹, Emily Weidenbaum², Julia Buldo-Licciardi²

¹NYU Langone Fertility Center, NYU Langone Health, 159 East 53Rd St., 3Rd Floor, New York, NY, 10022, USA. andria.besser@nyulangone.org.

Journal of assisted reproduction and genetics

|October 9, 2024

概括

带有非马赛克细分形 (NM-SA) 结果的胚胎可以导致活产,尽管比马赛克结果的比率更低. 这一发现有助于为预植入前遗传测试 (PGT-A) 决策提供咨询.

科学领域:

生殖生物学生殖生物学
遗传学是一个遗传学.
胚胎学胚胎学

背景情况:

在评估胚胎生存能力方面,对阳积体 (PGT-A) 的植入前遗传检测至关重要.
分段性形形状 (SA) 代表了部分染色体异常,它们对妊娠结果的影响需要进一步调查.

研究的目的:

为了评估怀孕结果,包括活产率 (LBR),在转移非马赛克细分形 (NM-SA) 结果的胚胎后.
为了比较NM-SA胚胎的结果与非马赛克全染色体无倍化 (NM-WCA) 和马赛克SA胚胎的结果.

主要方法:

对至少一个NM-SA胚胎 (2021年3月至2024年4月) 的冷胚胎移植 (FET) 的回顾性审查.
主要结局的分析:活产率 (LBR) 和产前诊断结果.
对NM-SA胚胎与NM-WCA和马赛克SA胚胎进行比较分析.

主要成果:

从25个转移的NM-SA胚胎中观察到24%的LBR.
在3/6个怀孕中产前诊断显示正常结果.
复制的胚胎比删除的胚胎具有更高的LBR.
与NM-WCA胚胎相比,NM-SA胚胎显示出更高的持续妊娠/LBR,但低于马赛克SA胚胎,与高水平马赛克相比没有显著差异 (>40%).

结论:

非马赛克细分性形状症可以导致euploid活产,但与马赛克形状症相比,成功率较低.
这些发现为有关PGT-A结果和胚胎移植策略的患者咨询提供了有价值的数据.

关键词:

胚胎移植是如何进行胚胎移植的马赛主义 (Mosaicism) 是一个教派.在PGT-A中.在植入前进行遗传检测.细分性形积分症 (segmental aneuploidy) 是一种细分性的形积分症.

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