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[专家一致认为,对于胎儿结构异常的全基因组测序的测试开发和初步实施]

Cyto And Genomics Group Of Medical Genetics Branch Of Chinese Medical Association¹, Writing Group For Expert Consensus On Whole-Genome Sequencing In Prenatal Diagnosis, Yanfei Wang

¹Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

|May 31, 2024

概括

全基因组测序 (WGS) 可以检测导致胎儿异常的遗传变异. 这一共识为WGS在产前诊断,帮助临床实践和对出生缺陷的遗传咨询提供了指导.

科学领域:

遗传学是一个遗传学.
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:

胎儿结构异常和出生缺陷源于诸如CNV,SNV和indels之类的遗传变异.
下一代测序 (NGS) 技术,特别是全基因组测序 (WGS),可以全面检测这些遗传变异.
高深度WGS (>30×) 越来越多地用于产前诊断,有效地确定胎儿发育异常的遗传原因.

研究的目的:

在产前诊断中建立WGS临床应用的共识.
引导WGS测试的开发和实施,用于诊断胎儿的结构异常.
为数据分析,报告和咨询产前WGS结果提供建议.

主要方法:

现有的共识,指导方针和关于产前诊断中WGS的研究结果的汇编.
制定一个共识文件,以标准化WGS在临床环境中的应用.
为数据解释和临床报告制定建议.

主要成果:

关于WGS在产前诊断中的应用,已经形成了全面的共识.
为数据分析,报告和咨询产前WGS结果提供了指导.
该共识旨在促进临床实践和胎儿异常诊断的测试开发.

结论:

全基因组测序是诊断胎儿结构异常遗传病因的一个有价值的工具.
标准化的指导方针对于产前WGS的有效临床实施至关重要.
这种共识是参与产前遗传检测的医疗保健专业人员的实用资源.

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