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产前超声波症状与胎儿皮层发育形遗传异常之间的关系
JunYa Chen1, Rong Zhu1, Hong Pan2
1Department of Obstetrics & Gynecology, Peking University First Hospital, Beijing, China.
概括
神经声学 (NSG) 可以检测到皮层发育 (MCD) 胎儿形的迹象,特定的指标,如异常的硫化和回声结节强烈暗示遗传原因. 建议进行全面的基因检测,因为在许多情况下,由于非特异性迹象,建议进行全面的基因检测.
科学领域:
- 神经成像是一种神经成像.
- 遗传学 遗传学 是一个
- 胎儿医学 胎儿医学
背景情况:
- 皮层发育形 (MCD) 包含各种先天性脑部异常.
- 对遗传原因的准确诊断对于预后和管理至关重要.
- 神经声谱 (NSG) 是胎儿大脑异常的产前检测的主要工具.
研究的目的:
- 调查胎儿神经声学 (NSG) 特定超声检测结果与皮层发育形 (MCD) 的遗传原因之间的相关性.
- 为了确定各种NSG标志在识别遗传MCD的诊断产量.
- 评估基因检测在怀疑MCD的胎儿中的实用性.
主要方法:
- 通过NSG识别的95名怀疑MCD的胎儿的回顾性分析.
- 评估10个特定的NSG标志,表明皮质发育异常.
- 在一组病例中使用染色体微阵列 (CMA) 和外体序列 (ES) 的遗传分析.
主要成果:
- 特定的NSG症状,包括异常的硫化 (100%),体内回声结节 (100%),异常的西尔维亚裂 (94.7%) 和延迟的皮质里程碑 (92.3%),与遗传性MCD有很高的关联.
- 其他迹象,如异常的形状,持续的质突出问题和不规则的心室边界,有66.7-73.7%的遗传性MCD发病率.
- 虽然一些突变与特定的症状相关,但许多遗传性MCD病例呈现出非特定的NSG发现.
结论:
- 神经声学 (NSG) 揭示了几个可靠的指标,可疑的皮质发育遗传形 (MCD),与不同的概率.
- 特定的NSG标志与遗传原因之间的关联并不总是直接的,这突显了MCD的复杂性.
- 鉴于许多超声检查结果的非特异性,建议在怀疑MCD病例的综合基因诊断中使用染色体微阵列 (CMA) 和外体序列 (ES) 组合.
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