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通过使用二项式定理,根据其离散队列大小预测囊胚活检基因型的频率分布
Thomas T F Huang1, Brienne Walker2, Hyeong J Ahn3
1Department of Obstetrics and Gynecology and Women's Health, John A. Burns School of Medicine, Honolulu, HI, USA; Pacific In Vitro Fertilization Institute, Honolulu, HI, USA.
Reproductive biomedicine online
|April 2, 2025
概括
双项定理准确地预测了年轻患者在较大的队列中尤普洛伊德胚胎细胞的基因型. 较小的队列,特别是在老年患者中,表现出比预测的少得多的幼胚胎,突出显示了马赛克胚胎的潜在怀孕价值.
科学领域:
- 生殖生物学 生殖生物学
- 遗传学 是一个遗传学.
- 生物统计学 生物统计学
背景情况:
- 囊胞活检对于植入前遗传检测至关重要.
- 了解基因型分布和预测模型对于优化试管婴儿结果至关重要.
- 队列大小和患者年龄影响euploidy率和遗传结果.
研究的目的:
- 根据队列大小调查囊胚活检基因型的分布.
- 评估二项式定理对不同队列大小的euploid基因型分布的预测准确性.
- 分析这些分布与患者年龄相关.
主要方法:
- 从206个病例中对1065个自身母细胞囊活检进行了回顾性观察性研究.
- 分类为euploid+,euploid-mosaic/segmental+或 meiotic的队列.
- 根据患者年龄 (<37 vs. ≥37岁) 和队列大小 (10组) 的分层.
- 观察到的欧普洛伊德胚胎细胞分布与二项式预测分布的比较.
主要成果:
- 在37岁以下的患者中,85.7%的队列是euploid+. 随着队列大小的增加,尤普洛伊迪几率增加,与较大的四分位数中的二项式预测密切一致.
- 在≥37岁的患者中,48.5%的队列是欧类+. 随着队列大小的增加,欧体的几率增加,但观察到的欧体囊在所有大小四分位数中都低于预测.
- 观察和预测分布之间的不一致性在年轻患者的较小队列大小和老年患者的所有大小中更大.
结论:
- 双项定理预测euploid基因型分布在队列大小>4的患者<37年.
- 在小队列的患者<37岁和所有队列大小的患者≥37岁,观察到的欧卵性母细胞囊比预测的少.
- 未转移的马赛克/细分基因型可能代表着宝贵的怀孕潜力的宝库.
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