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相关实验视频

Updated: Jun 8, 2025

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

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单核酸多态阵列分析来自平衡转位载体的胎儿在怀孕第二个三个月.

Xiaoqing Wu1,2,3,4, Shengrong Du1,2, Bin Liang1,2

  • 1Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.

Heliyon
|November 5, 2024
PubMed
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拥有女性平衡转位载体的夫妇的流产率高于男性载体. 使用SNP阵列分析进行产前诊断发现,由于平衡转位,胎儿拷贝数显著变化的风险没有增加.

科学领域:

  • 生殖医学和遗传学
  • 产前诊断 在产前诊断
  • 人类遗传学 人类遗传学

背景情况:

  • 情侣中的平衡转位对生殖结果构成风险.
  • 产前诊断对于管理转位载体怀孕至关重要.
  • 对这些夫妇来说,辅助生殖技术与植入前遗传诊断 (PGD) 是一种选择.

研究的目的:

  • 为了评估平衡转位载体的夫妇的怀孕结果.
  • 为了比较自然受孕和PGD辅助怀孕之间的风险.
  • 评估SNP阵列分析在检测临床显著异常方面的有用性.

主要方法:

  • 从199对平衡转位的189对夫妇进行了195次怀孕的回顾性审查.
  • 自然受孕 (126次怀孕) 与PGD辅助受孕 (69次怀孕) 的比较.
  • 应用单核酸多态性 (SNP) 阵列分析和常规型定型用于遗传评估.

主要成果:

  • 女性携带者在自然受孕 (p < 0.05) 时,与男性携带者 (14.0%) 相比,反复流产的发生率 (30.2%) 显着更高.
  • 这种流产率的性别差异也在PGD组中观察到 (p < 0.05).
  • SNP阵列分析发现了额外的副本数变异 (CNV),但没有提供足够的证据表明平衡的转位会增加临床显著的CNV的胎儿风险.
关键词:
平衡转移的转移是平衡的传统的类型化.副本编号变体的变体单核酸多态系数组是一个单核酸多态系数组.转移的断点是转移的断点.

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Last Updated: Jun 8, 2025

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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结论:

  • 当女性伴侣是平衡转移载体时,反复流产的频率更高.
  • 在产前诊断中,传统的SNP阵列分析并不能强烈支持由于平衡转位而导致临床显著的CNVs的胎儿风险增加.
  • 调查结果强调了在对平衡转移的夫妇进行风险评估时考虑载体性别的重要性.