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对中等覆盖基因组测序和SNP阵列技术在识别染色体异常的比较研究,以提前产前和产后诊断

Jialun Pang¹, Lin Zhou¹, Jiancheng Hu¹

¹Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

The Journal of molecular diagnostics : JMD

|June 7, 2025

概括

5倍基因组测序 (GS) 和SNP阵列技术在检测染色体异常方面具有很高的一致性. 5倍GS在断点定义中提供了更高的精度,并在产前和产后诊断中降低了假阳性率.

科学领域:

遗传学遗传学是一个
基因组医学是基因组医学.
诊断技术诊断技术的使用

背景情况:

染色体异常需要准确检测,用于产前和产后诊断.
单核酸多态 (SNP) 阵列技术是检测这些异常的标准方法.
基因组测序 (GS) 是一种潜在的替代或补充方法.

研究的目的:

为了比较5倍基因组测序 (GS) 与SNP阵列技术的性能.
为了评估检测复制数变异 (CNVs),马赛克主义和异构性缺失 (AOH) 的检测.
在产前和产后遗传测试中评估诊断准确性.

主要方法:

用5倍的GS重新分析了42个先前使用SNP阵列测试的样本.
对临床显著的CNVs的一致性评估.
对马赛克和AOH检测能力的评估.
定量PCR用于验证假阳性率.

主要成果:

对于临床相关的CNVs,5倍GS和SNP阵列之间100%的一致性.
5倍的GS在定义CNV断点方面表现出更高的精度和更低的错误阳性率.
对马赛克式检测具有相似的灵敏度,五倍的GS检测水平低至17%.
用5倍的GS (4.8Mb限制与5.08Mb相比) 检测AOH的灵敏度略有提高.

结论:

5倍GS显示了高精度和临床实用性,与SNP阵列技术相美.
5倍的GS提供了更高的精度和更低的错误阳性率用于检测染色体异常.
这项技术在改善产前和产后遗传检测方面具有重大潜力.

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