通过超声波检测的胎儿结构异常的产前外体序列分析 (PAGE):一个队列研究
Jenny Lord1, Dominic J McMullan2, Ruth Y Eberhardt1
1Wellcome Sanger Institute, Hinxton, UK.
Lancet (London, England)
|February 5, 2019
概括
整体外体测序 (WES) 在8.5%的有结构异常的胎儿中发现了诊断遗传变异,有助于区分综合症和非综合症. 这种基因检测可以改善产前诊断,但需要仔细选择病例以获得最大的临床效用.
科学领域:
- 医学遗传学
- 产前诊断
- 发育生物学
背景情况:
- 通过超声波检测到的胎儿结构异常可能源于遗传原因,如体积变异,复制数变异 (CNV) 和发育基因的序列变异.
- 目前常规测试形和CNV提供了有限的洞察力,用于在产前环境下全基因组下一代测序的临床实用性.
- 该研究调查了全外体测序 (WES) 的诊断产量,用于识别胎儿中具有结构异常的发育障碍基因中的遗传变异.
研究的目的:
- 使用整体外体测序 (WES) 评估具有与发育障碍相关的可识别遗传变异的胎儿比例.
- 评估WES在胎儿结构异常的产前诊断中的临床有用性.
- 确定各种胎儿表型的WES诊断产量,包括多系统,心脏和骨异常,以及孤立的凸性增加.
主要方法:
- 这项前性队列研究涉及英格兰和苏格兰的34个胎儿医学单位.
- 在610个具有结构异常的胎儿和父母样本上进行了全外体测序 (WES).
- 使用针对发育障碍的基因组来解释测序结果,并通过产后验证基因变异.
主要成果:
- 在8. 5% (52/ 610) 的胎儿中发现了诊断性遗传变异,另有3. 9% (24/ 610) 显示出具有潜在临床有用性的不确定的变异.
- 诊断变异的检测有助于区分综合征和非综合征胎儿异常.
- 在多系统 (15. 4%),骨 (15. 4%) 和心脏 (11.1%) 异常的胎儿中观察到最高的检测率,而最低的率是隔离的部透光度增加 (3. 2%).
结论:
- 整体外体测序 (WES) 便于对胎儿结构异常进行遗传诊断,使得预后和复发风险的预测更加准确.
- 虽然WES可以改善对有结构异常的胎儿的遗传疾病的鉴定,但这一潜在队列的整体检测率低于预期.
- 在在产前环境中广泛实施之前,仔细选择病例对于最大限度地提高WES的临床有用性至关重要.
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