在产前诊断中的染色体微阵列:来自土耳其的单一中心的经验
Gulsum Kayhan1, Meral Yirmibeş Karaoguz1, Pınar Calis2
1Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Türkiye.
Congenital anomalies
|August 23, 2025
概括
染色体微阵列 (CMA) 在产前诊断中有效检测遗传变异. 这项研究证实CMA
科学领域:
- 遗传学
- 产前诊断
- 医疗诊断
背景情况:
- 染色体微阵列 (CMA) 是遗传疾病的关键诊断工具.
- 它在产前诊断中的有用性已经确立,但临床相关性需要进一步研究.
- 需要一项土耳其队列研究来评估CMA与临床发现的相关性.
研究的目的:
- 评估CMA在土耳其大量产前群体中的诊断产量.
- 用于分析超声波异常,家族病史或异常查的胎儿的CMA结果.
- 评估病原体变异的意义,包括独特的断点.
主要方法:
- 对373个产前样本进行了染色体微阵列 (CMA) 分析.
- 样本来自各种超声波异常,家族病史或异常查的胎儿.
- 胎儿的异常是根据超声波结果进行分类的.
主要成果:
- 在373名胎儿中有18名 (4.8%) 发现了致病变体.
- 总共有21种致病变体被检测到.
- 七个变体是复发的微删除/重复;14个具有独特的断点.
结论:
- CMA对于土耳其人口的产前诊断非常重要和有效.
- 报告结果,特别是独特的断点,对于遗传咨询和管理至关重要.
- CMA可以提高胎儿异常的诊断准确度.
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