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对NIPT常见形积分症查方法的精度差异进行系统审查

Tamas Marton¹, Zsófia R Erdélyi¹, Minori Takai¹

¹Department of Obstetrics and Gynecology, Semmelweis University, 1082 Budapest, Hungary.

Journal of clinical medicine

|April 26, 2025

概括

非侵入性产前检测 (NIPT) 方法对常见的胎儿三症有类似的准确性,但积极的预测值有所不同. 将NIPT与超声波查相结合,可以提高其在怀孕期间的效用.

科学领域:

遗传学和基因组学在
产前诊断在产前诊断
孕产妇和胎儿医学孕产妇和胎儿医学

背景情况:

非侵入性产前检测 (NIPT) 是一种广泛采用的胎儿动脉瘤查方法,比传统方法准确度更高.
现有各种NIPT技术,包括全基因组测序 (WGS),单核酸多态 (SNP),微阵列和滚动圆放大 (RCA).
对NIPT方法的性能进行全面的比较评估,特别是对于三症检测的预测值,是有限的.

研究的目的:

系统地审查和比较用于常见肺积体查的不同NIPT方法的准确性.
评估各种NIPT技术的性能指标,包括灵敏度,特异性和预测值.

主要方法:

2003年至2023年间发表的临床研究的系统审查,包括WGS,SNP,微阵列和RCA NIPT方法.
在没有限制的情况下从主要数据库 (PubMed,Embase,Web of Science,Scopus,clinicaltrials.gov,Cochrane Library) 提取数据.
计算灵敏度,特异性,正预测值 (PPV) 和负预测值 (NPV) 从提取的真/假阳性/负数据来计算三症21 (T21),18 (T18) 和13 (T13).

主要成果:

这份综述包括了21篇研究的20篇文章,涉及92,164名孕妇.
所有NIPT方法都显示T21检测的高灵敏度 (>97%) 超过了传统查.
与其他NIPT方法相比,SNP和RCA方法显示PPV较低;微阵列对T18具有较低的灵敏度;WGS和RCA通常对T13具有较低的PPV.

结论:

不同的NIPT方法对常见的胎儿三症具有相似的临床敏感性,特异性和NPV.
在NIPT方法中PPV的变化突显了确认性侵入性测试的必要性,以获得积极的结果.
将NIPT与对结构异常的超声波查相结合,可能会提高非侵入性产前检测的整体临床效用.

关键词:

在 NIPT 中,NIPT 包含了NIPT.cfDNA DNA 的时间.常见的三发症查常见的三发症查非侵入性的产前检测.在产前诊断产前诊断社会经济成本.

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