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在基于胚胎PGT-A结果的原因不明的复发性妊娠损失的夫妇中识别神秘平衡转位
Shuo Li1,2,3,4,5, Hongchang Li1,2,3,4,5, Yuan Gao1,2,3,4,5
1Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, China.
Journal of assisted reproduction and genetics
|December 15, 2023
概括
平衡转位 (BTs) 经常错过在无法解释的重复性妊娠损失 (uRPL) 病例,尽管正常的型. 伴侣配对测序 (MPseq) 和前植入性形瘤遗传测试 (PGT-A) 可以识别这些神秘的遗传变异.
科学领域:
- 生殖遗传学 生殖遗传学
- 细胞遗传学 细胞遗传学
- 基因组医学是一种基因组医学.
背景情况:
- 无法解释的复发性怀孕丧失 (uRPL) 影响了许多夫妇.
- 传统的型定型可能无法检测到某些平衡转位 (BTs).
- 预植入前遗传测试 (PGT-A) 可以揭示胚胎的结构变异.
研究的目的:
- 为了调查是否平衡转位 (BTs) 错过了之前的 karyotyping 在伴侣与RRPL.
- 评估 mate-pair 测序 (MPseq) 在识别神秘 BT 的有用性.
主要方法:
- 分析了48对有RRPL和正常肉类型的夫妇的病例系列.
- 胚胎经过了前植入性遗传测试,以检测形状 (PGT-A).
- 周围血液样本经过伴侣对测序 (MPseq) 进行BT检测.
主要成果:
- 伴侣对测序 (MPseq) 在76.47%具有类似胚胎结构变异 (SVs) 的夫妇和9.7%没有euploid胚胎的夫妇中确定了BT.
- 由于分辨率有限,六个BT被G-band karyotyping遗漏.
- 类似的带状图案和细分尺寸导致错过诊断.
结论:
- 正常的型不排除在RRPL对中的平衡转位 (BTs).
- PGT-A可以突出潜在的载体被卡里奥类型遗漏,特别是当在多个胚胎中观察到类似的SV时.
- 低分辨率的转位仍可能逃避检测.
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