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Updated: Jun 24, 2025

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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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遗传咨询和诊断指南,适用于不孕不育和/或反复流产的夫妇
Margot J Wyrwoll1, Sabine Rudnik-Schöneborn2, Frank Tüttelmann1
1Institute of Reproductive Genetics, University of Münster, Vesaliusweg 12-14, 48149Münster, Germany.
概括
基因诊断对于诊断不孕症和夫妇中经常性流产至关重要. 建议涵盖遗传咨询,男性和女性的特定测试,以及辅助生殖和流产病例的染色体分析.
科学领域:
- 生殖医学 生殖医学
- 医学遗传学 医学遗传学
- 临床指南 临床指南
背景情况:
- 不孕症影响全球10-15%的夫妇,男性和女性的贡献相等.
- 经常性流产影响到1%至5%的夫妇.
- AWMF的基于共识 (S2k) 的指南为德语地区的不育夫妇和经常流产的夫妇提供了建议.
研究的目的:
- 总结目前对不育夫妇和那些经历反复流产的夫妇的遗传咨询和诊断的建议.
- 概述男性和女性不孕不育的基本咨询前检查和特定遗传测试.
- 突出基因分析在辅助生殖技术和反复流产评估中的作用.
主要方法:
- 审查当前的S2k 在不孕不育和反复流产的遗传诊断指南.
- 遗传前咨询检查的描述,包括妇科/雄性病学评估,激素分析,体检,生殖器超声波和精液分析.
- 推的基因测试列表:型化,FMR1前变异分析,CHH和先天性上腺增生的基因组,AZF微切除查,CFTR分析,以及针对ART和反复流产的染色体分析.
主要成果:
- 咨询前的评估有助于诊断诸如高/低阴性性阴性症等疾病.
- 女性遗传诊断包括型,FMR1分析和CHH/先天性上腺增生症的基因组.
- 男人遗传诊断包括型,AZF查,CFTR分析和CHH,阿佐精子或精子缺陷的基因组.
结论:
- 基因诊断对于澄清不孕症和反复流产的原因至关重要.
- 为检测染色体异常,建议对接受ART的不育夫妇的两对伴侣和经常流产的夫妇进行胆型鉴定.
- 基因面板越来越多地被用于精确的特定不孕症表型的病因学澄清.
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