在胎儿结构异常的评估中进行全外测序:前性队列研究
Slavé Petrovski1, Vimla Aggarwal2, Jessica L Giordano3
1Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge, UK.
Lancet (London, England)
|February 5, 2019
概括
在标准遗传测试没有确定性时,全外体测序 (WES) 对胎儿结构异常具有显著的诊断价值. 这项研究表明,
科学领域:
- 遗传学
- 产前诊断
- 基因组医学
背景情况:
- 染色体复合和复制数变异与胎儿结构异常有关.
- 整体外体测序 (WES) 在选定的产前病例中显示出有前途.
- 在大,未经选择的群体中,WES的临床效用仍未得到充分评估.
研究的目的:
- 预期评估WES的增量诊断产量.
- 评估 WES 的附加值在无信息的型和染色体微阵列结果之后.
- 在未经选择的胎儿结构异常的怀孕中调查WES.
主要方法:
- 通过产前超声检测发现结构异常的胎儿的前性队列研究.
- 排除已知无积分体或致病复制数变异的胎儿.
- 父母和胎儿三组的整体外体序列分析 (WES).
主要成果:
- 在10% (24/ 234) 的符合条件的三组中发现了诊断性遗传变异.
- 另有20% (46/234) 的胎儿表现出具有致病特征的突变.
- 这项研究包括234个符合条件的父母-胎儿三组从517个怀孕的查队列中.
结论:
- 当标准基因测试对胎儿结构异常没有信息时,WES提供了临床相关的信息.
- WES可以帮助管理未知的胎儿异常.
- 多学科团队分析对于基于WES的产前诊断至关重要.
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