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胎儿测序的全球交付:我们需要一些标准化吗?

Natalie J Chandler^1,2, Zandra C Deans³

¹NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Prenatal diagnosis

|July 25, 2025

概括

胎儿异常的产前测序显示了测试,分析和报告的显著变化. 需要全球指导方针来规范这些对单一性疾病至关重要的诊断服务.

科学领域:

遗传学遗传学是一个
产前诊断在产前诊断
生物信息学是一种生物信息学.

背景情况:

测序技术的进步扩大了胎儿结构异常的产前检测.
在产前诊断单基性疾病越来越依赖于这些新技术.

研究的目的:

评估产前测序服务的提供变异性.
了解测试,实验室流程和报告范围的当前做法.

主要方法:

在国际产前诊断协会 (ISPD) 的投入下,开发和完善了一项调查.
该调查针对GenQA注册实验室和ISPD成员,以收集有关产前测序实践的数据.

主要成果:

收到来自不同专家的101个回复,显示了胎儿测序测试执行的实质性变化.
在实验室如何进行,分析和报告产前测序结果方面观察到显著差异.

结论:

这项研究强调了对产前测序的国际指导方针的迫切需要.
标准化是预测临床角色,测试范围,数据解释,意外发现和报告所需的.

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相关概念视频

Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....