网站逆向总体:一个案例报告和文献综述
Xin Du1, Ning Wang1, Juanjuan Sheng1
1Senior Department of Obstetrics & Gynecology, Chinese PLA General Hospital Beijing People's Republic of China.
Clinical case reports
|January 26, 2026
概括
网站逆向总体 (SIT) 是一种罕见的疾病,在产前被诊断出来. 基因测试确定了DNAH11基因变异,突出了先进诊断和相关纤毛病的咨询的重要性.
科学领域:
- 医学遗传学 医学遗传学
- 胎儿医学 胎儿医学
- 遗传异常是一种先天性异常.
背景情况:
- 网站逆向总体 (SIT) 是一种罕见的先天性疾病,具有胸腔腹部内脏的镜像转移.
- 虽然SIT往往是良性的,但它可能与像初级动力障碍症 (PCD) 这样的病障碍有关,这使得产前诊断和遗传咨询复杂化.
- 产前检测SIT和相关遗传条件仍然具有挑战性.
研究的目的:
- 报告SIT产前诊断的情况.
- 在没有其他结构异常的情况下,调查SIT的遗传基础.
- 强调先进基因测试和多学科咨询在SIT管理中的作用.
主要方法:
- 常规产前超声波和胎儿心声扫描用于SIT诊断.
- 染色体微阵列 (CMA) 用于检测染色体异常.
- 整体外体测序 (WES) 用于识别致病性遗传变异.
主要成果:
- 在产前通过超声波和心声回声扫描诊断出SIT.
- CMA结果正常,排除了显著的染色体异常.
- 在DNAH11基因中,WES确定了复合异构性致病变体,与原发性纤维功能障碍症 (PCD) 相关.
结论:
- 详细的成像和全面的基因检测对于评估SIT至关重要.
- 在一个孤立的SIT病例中识别DNAH11变异突出了潜在的遗传链接与纤毛病.
- 面对SIT诊断及其遗传影响的家庭,多学科团队咨询是必不可少的.
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