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在产前检测到的先天性形中进行全基因组测序:临床环境中的前性队列研究

E Westenius^1,2, P Conner^3,4, M Pettersson^1,2

¹Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

|January 25, 2024

概括

三重全基因组测序 (WGS) 在胎儿先天性形方面取得了26%的诊断收益率,在50例中13例中确定了致病变体. 这种基因测试为受影响怀孕的预后和复发风险提供了宝贵的见解.

科学领域:

遗传学和基因组学遗传学和基因组学
产前诊断在产前诊断
胎儿医学胎儿医学

背景情况:

在产前诊断中,先天性形是一个重大问题.
现有的诊断方法可能无法确定所有胎儿异常的遗传原因.
三重全基因组测序 (WGS) 为遗传分析提供了一种全面的方法.

研究的目的:

评估三组全基因组测序 (WGS) 在患有先天性缺陷的胎儿的诊断产量.
在未知原因的胎儿异常的情况下,识别致病性遗传变异.
评估WGS在产前诊断中的临床实用性.

主要方法:

对50例患有先天性形的孕妇进行前性研究,不包括三症和副本数变异.
胎儿-父母三组全基因组测序 (WGS) 分析使用短读测序.
分析包括单核酸变异,插入/删除,结构变异和基因拷贝数识别.

主要成果:

在26% (13/50) 的病例中实现了分子诊断.
在12个不同的基因中确定了因果序列变异,包括FGFR3,ACTA1和L1CAM.
在30% (15/50) 的病例中发现了致病或潜在的临床相关变异.

结论:

三重全基因组测序 (WGS) 证明了在产前检测到的先天性形方面具有显著的诊断产量.
WGS为预后,复发风险评估和生殖选择提供了临床相关信息.
未来的研究将染色体异常分析与WGS结合起来,可能会进一步提高检测率.

关键词:

这是一种先天性形.胎儿的发育胎儿的发育胎儿胎儿胎儿胎儿遗传病是一种遗传性疾病.产前诊断在产前诊断.这是一个结构异常.整个基因组测序的测序.

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