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Updated: Sep 16, 2025

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在产前样本中低覆盖基因组测序的诊断实用性的前性评估:与染色体微阵列分析的比较

Yan Yin¹, Yuxia He¹, Chun Chen¹

¹The Center of Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.

Prenatal diagnosis

|July 5, 2025

概括

低覆盖全基因组测序 (LC-GS) 有效地检测出胎前染色体异常,如动脉和拷贝数变异 (CNVs). 这种方法为产前诊断提供了染色体微阵列分析 (CMA) 的成本效益高,高度敏感的替代方案.

科学领域:

遗传学和基因组学在
产前诊断在产前诊断

背景情况:

染色体异常是不良妊娠结果的重要原因.
目前的诊断方法,如染色体微阵列 (CMA),对于某些基因组变异的成本和分辨率都有局限性.

研究的目的:

评估低覆盖全基因组测序 (LC-GS) 在检测临床相关染色体异常方面的有效性.
为了比较LC-GS与传统CMA在产前环境中的性能.

主要方法:

一项前性研究分析了200个胎液样本,使用LC-GS进行了3X覆盖.
对LC-GS的评估是因为它能够识别副本数变异 (CNVs),动脉,同卵性区域 (ROH) 和染色体马赛克.
结果与传统方法进行比较,包括CMA和型定型,以确定灵敏度,特异性和临床实用性.

主要成果:

在LC-GS中,发现了77例阳性病例 (38.5%),包括动脉,CNV,ROH和马赛克.
在检测这些异常时,LC-GS和CMA之间观察到很高的一致性,LC-GS显示了亚微观CNV的优异分辨率.
与CMA相比,LC-GS实现了21%的诊断产量,并提供了较低的成本.

结论:

LC-GS是产前诊断的强大而有效的替代方案.
它在检测广泛的基因组异常时,对CMA具有可比的灵敏度和特异性.
在成本效益和分辨率方面,LC-GS为识别特定遗传变异提供了优势.

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