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胎儿染色体异常的残留风险当细胞自由DNA产前查是正常的:一个回顾性研究

Adriana I Iglesias¹, Diane Van Opstal¹, Florentine F Thurik¹

¹Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Prenatal diagnosis

|September 24, 2025

概括

在正常无细胞DNA (cfDNA) 查后,胎儿染色体异常的残留风险很低. 然而,超声波异常显著增加了这种风险,即使有负cfDNA结果,也需要进一步调查.

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:

无细胞DNA (cfDNA) 查是检测胎儿染色体异常的常见方法.
解释cfDNA查结果需要了解残留风险,特别是在特定的临床场景中.

研究的目的:

估计正常cfDNA查后胎儿染色体异常的残留风险.
通过提供准确的风险数据来完善产前咨询.

主要方法:

一项对46,007名怀孕妇女进行的回顾性研究,他们的cfDNA查结果正常.
队列分为向 (染色体13/18/21) 和全基因组cfDNA组.
细胞基因组随访使用染色体微阵列 (CMA) 进行风险评估.

主要成果:

致病性染色体异常的总体残留风险很低 (0.15%用于向性,0.14%用于全基因组cfDNA).
在超声波异常的情况下,残留风险显著增加 (13.3%针对性,8.1%全基因组cfDNA).
大多数CMA转诊 (511/806) 是由于超声波异常.

结论:

正常的cfDNA查表明,致病性拷贝数变异 (CNV) 的残留风险较低.
超声波异常与正常cfDNA查相结合,大大提高了染色体异常的风险.
在超声波异常的情况下,尽管cfDNA结果正常,但侵入性测试可能是合理的,有助于知情的产前咨询.

关键词:

一个染色体微阵列.染色体异常染色体异常产前没有细胞的DNA查.产前咨询产前咨询剩余的风险剩余的风险

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