在体外受精和胚胎移植 (IVF-ET) 期间报告了两例罕见的唐氏综合征病例
Parisa Taherzadeh Boroujen1, Mitra Nemati, Fatemeh Naderipour
1Shahid Beheshti University of Medical Sciences, School of Medicine, Tehran, Iran.
Medicine
|January 31, 2025
概括
辅助生殖技术 (ART) 可以导致患有21型三症 (唐氏综合征) 的怀孕. 本案例报告强调了基因咨询和产前查对ART患者的重要性,以检测和管理遗传异常.
科学领域:
- 生殖医学 生殖医学
- 医学遗传学 医学遗传学
- 产科 产科 产科 产科 产科
背景情况:
- 辅助生殖技术 (ART) 为不孕症提供了解决方案,但也带来了潜在的风险.
- 本案例报告详细介绍了一个通过体外受精 (IVF) 怀孕的怀孕,由于三形21 (唐氏综合征) 而被终止.
研究的目的:
- 提交关于通过试管婴儿检测到怀孕中的21型阴性病的病例报告.
- 强调遗传咨询和产前查在ART中的重要性.
主要方法:
- 由于多囊卵巢综合征导致的初级不孕症的两名妇女接受了ART和IVF.
- 在成功的第二次试管婴儿试验后,怀孕在怀孕12周和4天后进行了查.
- 产前查包括上透光检查和生化标志物 (怀孕相关的血蛋白-A和β-人类胆管性腺激素).
主要成果:
- 两位患者都被诊断为三形21 (唐氏综合征).
- 遗传咨询显示,没有遗传性疾病的家族史.
- 在诊断确认后,怀孕在怀孕12周和4天时被合法终止 (47,XX型从胆小取样).
结论:
- 接受ART的夫妇应该接受全面的遗传咨询.
- 产前查对于识别ART怀孕中的遗传异常至关重要.
- 早期检测允许在怀孕管理方面做出明智的决策.
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