临床和分子分析71例RAS病变的胎儿病例
Qiu-Xia Yu1, Li Zhen1, Yong-Ling Zhang1
1Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
European journal of obstetrics, gynecology, and reproductive biology
|September 13, 2025
概括
早期产前诊断的RASopathies是可能的,因为超过一半的病例显示第一季度的超声波发现. 一个6毫米的鼻半透明度切断将错过近一半的这些早期RASopathy诊断.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 胎儿超声波检查 胎儿超声波检查
背景情况:
- 拉索病是一种由编码RAS/MAPK通路的基因变异引起的基因疾病.
- 这些情况会导致各种先天性异常和发育问题.
- 早期识别RAS病变对于及时干预和管理至关重要.
研究的目的:
- 详细说明被诊断患有RAS病的胎儿的产前超声波特征.
- 概述了在产前发现的RAS病的遗传情景.
- 评估早期第一季度RAS病变的早期诊断潜力.
主要方法:
- 追溯分析了71个确诊的RAS病症病例.
- 审查母亲人口统计,产前超声波发现,外体序列 (ES) 数据和怀孕结果.
- 超声波特征与遗传变异和检测时的妊娠年龄的相关性.
主要成果:
- 在56.3%的病例中,出现了异常的第一季度超声检查结果,并增加了上透光度 (NT) 或囊性湿瘤 (CH).
- 初始异常发现的妊娠年龄中位数为13周.
- 在16个基因中确定了致病变体,PTPN11是最常见的 (43.7%).
结论:
- 超过一半的子宫内RASopathy病例在第一季度出现可检测的特征,使得早期产前诊断成为可能.
- 胸部半透明度 (NT) 的切线≥6毫米将错过大约45%的第一季度RASopathy病例.
- 第一个三个月的超声波标记器对于识别RAS病变风险的胎儿是有价值的.
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