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在中等风险怀孕中,机会性全基因组cfDNA产前查的临床实用性

S Menao Guillén¹, L Pedrola², C Orellana²

¹Department of Genetics, Hospital Clínico Universitario Lozano Blesa, 50009 Zaragoza, Spain.

|November 27, 2025

概括

扩展的非侵入性产前检测 (NIPT) 检测罕见的染色体异常,改善产科管理. 这种全基因组的方法提供了宝贵的见解,超出了孕妇的标准查.

科学领域:

遗传学是一个遗传学.
产前诊断在产前诊断
基因组医学是基因组医学.

背景情况:

使用无细胞胎儿DNA (cfDNA) 的非侵入性产前检测 (NIPT) 已经改变了针对常见三症的产前查.
基于下一代测序 (NGS) 的NIPT可以检测出其他染色体异常,但临床实用性需要更多证据.

研究的目的:

评估全基因组NIPT在中等风险孕妇中的临床实用性和经验.
在2020年至2024年期间在西班牙阿拉贡和瓦伦西亚进行的研究.

主要方法:

追溯性队列研究,涉及中等风险或具有特定临床标准的孕妇.
妇女提供了基本或扩展的NIPT;通过侵入性测试或胎盘分析证实了积极结果.

主要成果:

9,059个扩展NIPT中的132个 (1.45%) 显示了较罕见异常的高风险结果.
检测到的异常包括罕见的自身染色体形状 (RAAs),复制数变异 (CNVs) 和性别染色体形状 (SCAs).
阳性预测值 (PPV) 不同:RAA为5.5%,CNV为12.8%,SCA为58%.

结论:

扩展NIPT发现了传统查遗漏的临床显著异常.
扩展NIPT的机会性使用可以提高产科管理,而不会显著增加侵入性手术.

关键词:

副本数量的变化副本数量的变化在全基因组范围内的基因组.在产前的cfDNA查.这是一种罕见的自体形形状症.三重症是三重症的一种.

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