在胎儿超声波心血管异常中应用非侵入性产前检测-plus:一项观察性研究
Keqin Jin1,2, Xiayuan Xu1,2, Shuangshuang Shen1,3
1Jinhua's Key Laboratory of Birth Defects Prevention and Treatment, Jinhua, Zhejiang, China.
Medicine
|December 2, 2025
概括
非侵入性产前检测plus (NIPT Plus) 通过检测副本数变异 (CNVs) 在诊断胎儿先天性心脏病 (CHD) 中显示出高准确性. 这种先进的基因测试有助于识别胎儿心血管异常,当与超声波和侵入性诊断相结合时.
科学领域:
- 产前诊断 在产前诊断
- 遗传学 遗传学是一种遗传学.
- 心脏病学 心脏病学
背景情况:
- 遗传性心脏病 (CHD) 是中国常见的出生缺陷,通常与染色体异常,如复制数变异 (CNV) 相关.
- 传统的超声波查在检测胎儿心脏病的遗传原因方面存在局限性.
- 对于诊断胎儿心脏病的非侵入性产前检测加 (NIPT Plus) 的临床疗效需要进一步研究.
研究的目的:
- 探索NIPT Plus在确定胎儿心脏病的临床疗效和诊断性能.
- 评估NIPT Plus检测到的CNV与侵入性产前诊断程序的结果之间的一致性.
主要方法:
- 怀孕妇女的胎儿显示结构性心脏缺陷或异常的心脏软标记在超声波上被纳入.
- 所有参与者都接受了NIPT Plus,随后进行了侵入性产前诊断 (染色体胆型定型和/或染色体微阵列分析 - - CMA).
- 在NIPT Plus和对拷贝数变异 (CNVs) 侵入性诊断结果之间进行了对应性分析.
主要成果:
- 在39个胎儿进行了NIPT Plus测试,阳性检测率为30.77% (12/39).
- 在通过侵入性诊断确认的32例病例中,NIPT Plus正确识别了12例阳性病例,为CNVs实现了91.67%的阳性预测值.
- NIPT Plus显示了与染色体微阵列分析 (CMA) 相似的结果,没有发现显著差异.
结论:
- NIPT Plus显示出良好的检测性能和临床实用性,作为胎儿心血管发育异常的辅助诊断工具.
- 对于胎儿心脏病的NIPT Plus的临床应用应整合超声波发现和浸性测试,如羊水切割,以尽量减少假阳性和错过诊断.
- NIPT Plus为胎儿心脏缺陷的遗传基础提供了宝贵的见解,补充了传统的查方法.
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