在320名患有鼻骨异常的胎儿的产前诊断和结果
Hui Li1, Yanyi Yao1, Chengcheng Zhang1
1Medical Genetic Center, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Frontiers in genetics
|September 11, 2023
概括
胎儿鼻骨异常与显著的染色体异常有关,包括三症 21. 遗传咨询对于家长来说至关重要,以了解体积分和副本数变体 (CNVs) 的风险.
科学领域:
- 产前诊断 在产前诊断
- 医学遗传学 医学遗传学
- 胎儿超声波检查 胎儿超声波检查
背景情况:
- 缺席或低可塑的胎儿鼻骨是染色体异常的潜在软标记.
- 产前诊断依赖于识别胎儿异常来评估遗传风险.
研究的目的:
- 为了调查缺少或低可塑性鼻骨的胎儿染色体异常的患病率.
- 为面对胎儿鼻骨异常的父母提供支持遗传咨询的数据.
主要方法:
- 在2017-2021年期间对320名患有鼻骨异常 (NBA) 的胎儿进行了回顾性评估.
- 使用染色体微阵列和/或基因分析的核型.
- 包括所有患者的测试前后遗传咨询.
主要成果:
- 在320名患有NBA的胎儿中,89名 (27.8%) 的胎儿发现了染色体异常.
- 三胞胎瘤21是最常见的动脉形 (53例,59.6%的异常).
- 在29例病例中检测到致病副本数变异 (CNVs);在低风险查的孤立NBA中发生率为5.3%.
结论:
- 胎儿鼻骨异常与显著的染色体动脉和病原性CNVs的发生率有关.
- 建议对这些遗传风险进行知情的家长咨询.
- 这些数据支持临床决策和对胎儿鼻骨异常的遗传咨询.
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