对NIPT或NIPT加的回顾性研究与超声波相结合,用于查胎儿染色体异常
Meilin Chen1, Peisong Chen1, Siyang Yu2
1Department of Laboratory Medicine, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, People's Republic of China.
Scientific reports
|April 14, 2025
概括
与超声波相结合的NIPT plus提供了对罕见染色体异常的卓越检测,而标准的NIPT则在查常见三位症方面表现出色. 这种组合可以提高产前诊断的准确性.
科学领域:
- 产前诊断 在产前诊断
- 遗传学 遗传学 是一个
- 产科 产科 产科 产科 产科
背景情况:
- 非侵入性产前检测 (NIPT) 对于产前遗传查至关重要.
- 将高级NIPT plus与标准NIPT进行比较对于优化产前护理至关重要.
- 染色体微阵列 (CMA) 作为验证NIPT性能的黄金标准.
研究的目的:
- 为了比较NIPT plus和标准NIPT与CMA的临床性能.
- 在产前遗传评估中评估NIPT和NIPT加的诊断效率.
- 评估超声波与NIPT方法相结合的附加值.
主要方法:
- 对306名孕妇进行了回顾性分析.
- 与CMA作为黄金标准的NIPT加和标准NIPT的比较.
- 测试结果与超声波检测结果的相关性,以评估准确性.
主要成果:
- 与超声波相结合的NIPT加显著改善了性染色体积症 (SCA),微删除/微复制综合征 (MMS) 和罕见的自体三位症 (RAT) 的检测.
- 与超声波相结合的NIPT加实现了SCA/RAT/MMS的88.24%灵敏度,但比标准NIPT有更高的假阳性率.
- 超声波的标准NIPT显示了常见三位症 (T13,T18,T21) 的最高积极预测值 (88.89%).
结论:
- 与超声波相结合的NIPT plus是检测罕见和复杂染色体异常的最佳方法.
- 标准NIPT在查常见三症症方面仍然有效.
- 整合超声波可以提高NIPT策略的准确性和临床实用性.
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