复杂染色体重组的植入前遗传测试:临床结果和潜在的风险因素
Dun Liu1, Chuangqi Chen1, Qianwen Huang1
1Reproductive Medical Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
Frontiers in genetics
|August 14, 2024
概括
在复杂染色体重组 (CCR) 携带者中,染色体结构重组 (PGT-SR) 的植入前遗传测试产生了很少的正常胚胎. 女性携带者和B型CCR是减少欧胚胎的独立风险因素,但PGT-SR可以改善ART的结果.
科学领域:
- 生殖遗传学 生殖遗传学
- 人类遗传学 人类遗传学
- 细胞遗传学 细胞遗传学
背景情况:
- 复杂的染色体重组 (CCR) 是一种罕见的结构异常,涉及至少三个断点.
- 关于CCR携带者染色体结构重组 (PGT-SR) 的植入前遗传测试的数据有限.
- 了解CCR中的PGT-SR结果对于遗传咨询和辅助生殖技术 (ART) 至关重要.
研究的目的:
- 评估与CCR结合的PGT-SR的临床结果.
- 确定影响PGT-SR在CCR载体中的成功因素.
主要方法:
- 在2017年1月至2023年5月期间,对15对接受PGT-SR进行CCR的夫妇进行了回顾性分析.
- 包括54个CCR病例 (15个新病例,39个报告),以分析与正常/平衡胚胎相关的因素.
- 在17个PGT-SR周期中,从15个CCR夫妇中对100个胚胎囊进行了活检和分析.
主要成果:
- 只有16.0%的经过活检的胚胎囊是胚胎;11个正常/平衡的胚胎被移植,导致8个活产.
- 总体而言,来自54个CCR载体的胚胎中有10.8%是正常/平衡的,女性载体 (6.5%) 与男性载体 (15.5%) 的胚胎明显少.
- B型的CCR显示出最低的euploid率 (6.7%). 女性携带者和B型CCR被确定为减少欧体胚胎产量的独立风险因素.
结论:
- 在有生殖问题的个体中,平衡的CCR可能比以前认为的更常见.
- 尽管正常/平衡胚胎的比例很低,但PGT-SR可以在CCR病例中增强生殖成功.
- 这些发现有助于优化对接受ART的CCR载体的临床管理和遗传咨询.
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