无细胞DNA查积症的发现
1Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, California.
Clinical obstetrics and gynecology
|August 31, 2023
概括
无细胞DNA (cfDNA) 查有效检测胎儿动脉,但由于其非诊断性质,需要诊断确认. 咨询至关重要,解决局限性,并为阳性查或非报告结果提供进一步测试.
科学领域:
- 遗传学 是一个遗传学.
- 产前诊断 在产前诊断
- 分子生物学分子生物学
背景情况:
- 无细胞DNA (cfDNA) 查是一种广泛采用的方法,用于检测常见的胎儿自体形形状.
- 虽然有效,但cfDNA查不是诊断测试,需要通过侵入性程序进行确认.
- 很少有cfDNA查产生非报告结果,这些结果与风险增加有关.
研究的目的:
- 强调在cfDNA查后的咨询中具有积极预测价值的重要性.
- 要强调提供诊断测试的必要性,以在阳性cfDNA查后进行确认.
- 讨论非报告结果的含义和cfDNA查中错误阳性的原因.
主要方法:
- 审查关于cfDNA查性能和结果的现有文献.
- 分析导致非报告结果和虚假阳性结果的因素.
- 强调预测辅导和教育的作用.
主要成果:
- cfDNA查显示出高检测率的胎儿形瘤,但不是诊断.
- 非报告结果发生在大约3%的病例中,并且与形积分增加和周产期不良结果有关.
- 假阳性cfDNA结果可能来自受限的胎盘马赛克,母体拷贝数变异,马赛克和母体癌症.
结论:
- 对cfDNA查的积极预测价值必须是查后咨询的核心.
- 应始终提供诊断测试以确认阳性cfDNA查结果.
- 在cfDNA查之前,对益处,风险和限制进行全面的预测教育是必不可少的.
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