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增加测序深度的价值,用于对全染色体形积分的非侵入性产前查
Dongmei Wang1,2, Fangfang Guo1,2, Yaping Hou1,2
1Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, 511442, Guangdong, China.
Scientific reports
|January 21, 2025
概括
在非侵入性产前检测 (NIPT) 中增加测序深度显著改善了胎儿染色体形状的检测,特别是三症18. 这种更高的准确性为临床咨询提供了有价值的指导.
科学领域:
- 遗传学 是一个遗传学.
- 产前诊断 在产前诊断
- 基因组测序是指基因组的测序.
背景情况:
- 非侵入性产前检测 (NIPT) 是一种广泛使用的查工具,用于发现胎儿染色体瘤.
- 尼普特的性能,特别是它的正预测值 (PPV),可以受到测序深度的影响.
- 评估增加序列深度的影响对于优化NIPT协议至关重要.
研究的目的:
- 评估在半导体测序平台上增加NIPT测序深度的临床实用性.
- 为了比较标准NIPT与具有更高测序深度的扩展NIPT的诊断性能.
- 为了确定是否增强的测序深度提高了各种胎儿染色体形形状的积极预测值.
主要方法:
- 分析了59800例单独怀孕的队列,包括48018例标准NIPT病例和11782例扩展NIPT病例.
- 无血细胞DNA在标准NIPT的0.15X深度和扩展NIPT的0.4X深度进行了测序.
- 通过胎儿心型定型或微阵列分析证实了NIPT的积极结果,并进行了全面的随访.
主要成果:
- 与标准NIPT (1.42%) 相比,扩展的NIPT显示出更高的阳性率 (1.78%).
- 对三发性病21,18和13的积极预测值在扩展NIPT (86.96%,80.00%,35.00%) 与标准NIPT (84.80%,69.23%,25.00%) 相比显著更高.
- 随着测序深度的增加,观察到PPV的统计学上显著改善,特别是在三症 18.
结论:
- 增加NIPT的测序深度显然提高了胎儿染色体积症的积极预测值.
- 这些发现支持更高的测序深度的临床实用性,以提高NIPT准确性,特别是在三症18等疾病中.
- 这项研究为优化NIPT协议和临床决策提供了基于证据的指导.
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