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从中国的一个单一中心对罗伯逊转位的回顾性分析
Wan Lu1, Jihui Zhou1, Huihua Rao1
1Medical Genetic Center, Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
Reproductive sciences (Thousand Oaks, Calif.)
|November 6, 2023
概括
罗伯逊转位 (ROBs) 是常见的染色体异常. 通过遗传指导和辅助生殖技术 (ART),尤其是辅助怀孕,ROB携带者可以实现成功的怀孕.
科学领域:
- 遗传学 是一个遗传学.
- 人类遗传学 人类遗传学
- 生殖遗传学 生殖遗传学
背景情况:
- 罗伯逊转位 (ROBs) 是最常见的结构染色体异常,影响大约1000分之一的出生.
- 了解ROB携带者的生殖结果对于遗传咨询和计划生育至关重要.
研究的目的:
- 分析江西人口中罗伯逊转位的发病率和生殖结果.
- 评估ROB携带者的怀孕成功率,比较自然和辅助生殖技术.
主要方法:
- 从2015年9月到2022年8月,对84,569个型标本进行了回顾性分析.
- 使用Microsoft Excel和描述性统计数据的数据收集和分析.
- 对怀孕结果的审查,包括活产,流产,胎儿异常和试管婴儿失败.
主要成果:
- 确定了192名ROB载体,男性/女性比例为1/1.29. 最常见的型是der13;14) 和der14;21).
- 在192名患者中,82人分娩,103人没有孩子.
- 怀孕结果:在自然怀孕中66.67%的正常/平衡心类型,而在辅助怀孕 (ART) 中为90.00%.
结论:
- 江西人群中的罗伯逊式转位载体表现出特定的型分布.
- 辅助生殖技术 (ART) 显著提高了ROB携带者怀孕成功率.
- 遗传指导和ART对于在ROB载体中实现最佳妊娠结果至关重要.
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