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用胎儿超声波软标记器对孕妇进行染色体微阵列分析和非侵入性产前检测的比较

Xianqing Hu¹, Yanjun Hu¹, Hai Wang²

¹Department of Obstetrics and Gynecology, The Third Clinical Institute Affiliated to Wenzhou Medical University, Wenzhou People's Hospital, Wenzhou Maternal and Child Health Care Hospital, Wenzhou, People's Republic of China.

Risk management and healthcare policy

|January 10, 2024

概括

染色体微阵列分析 (CMA) 和非侵入性产前检测 (NIPT) 通过超声波软标记 (USM) 有效检测胎儿的胎儿染色体异常. 建议使用CMA进行侵入性产前诊断,以加厚后半透明度和多个软标记.

科学领域:

产前诊断在产前诊断
医学遗传学医学遗传学
胎儿医学胎儿医学

背景情况:

胎儿的超声波软标记 (USM) 可以表明染色体异常.
染色体微阵列分析 (CMA) 和非侵入性产前检测 (NIPT) 是先进的诊断工具.
评估CMA和NIPT在USM怀孕中的实用性对于准确诊断至关重要.

研究的目的:

评估CMA和NIPT在识别USM胎儿显著染色体异常方面的有效性.
为了比较各种染色体异常的CMA和NIPT检测率.
以指导基于特定USM的诊断策略.

主要方法:

在539名孕妇中进行了回顾性观察性研究,这些孕妇有胎儿USM (2019年1月至2022年9月).
418例接受了NIPT; 121人选择了侵入性产前诊断.
高风险的NIPT病例通过心脏类型和CMA进行了侵入性诊断;病例按单个和多个USM分层.

主要成果:

24例 (4.5%) 显示异常发现,包括数值异常,副本数量变异 (CNV) 和未知意义的变异 (VOUS).
在CMA检测到6个亚微观发现 (25%) 独家,而NIPT检测到16/24 (66.7%) 常见的风.
加厚部透光 (TNT) 组具有临床相关异常 (25.7%) 的最高流行率;NIPT显示1.22%的假阳性率和0%的假阴性率.

结论:

染色体积症在患有USM的胎儿中比亚微观失衡更为普遍.
尼普特对诸如回声性心内焦点等标志物是有效的.
对于具有TNT和多个软标记的胎儿,建议使用CMA进行侵入性产前诊断.

关键词:

染色体微阵列分析分析型是一种型.非侵入性的产前检测.产前诊断产前诊断产前诊断超声波软标记器超声波软标记器

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