基于序列的基因测试对胎儿的临床实用性,以下是非诊断的微阵列结果:基于人口的队列研究
Victoria M Allen1,2, Heleen H Arts1,2, Erica Schollenberg1,2
1Dalhousie University, Halifax, NS, Canada.
Prenatal diagnosis
|March 3, 2026
概括
在针对胎儿的非诊断微阵列测试后进行进一步的基因测序,在34%的病例中发现了遗传性疾病. 建议对增加的鼻透光或囊性湿瘤进行RASopathy面板测序.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 胎儿医学 胎儿医学
背景情况:
- 通过超声波识别的胎儿胀可能表明潜在的遗传疾病.
- 染色体微阵列 (CMA) 是一种主要的遗传测试,但可能不会在所有胎儿的病例中作出诊断.
研究的目的:
- 评估在非诊断性CMA后患有水的胎儿进一步基因测序的频率和诊断产量.
- 在这个特定的人群中评估向基因面板和外基因组测序的实用性.
主要方法:
- 从2014-2022年对114例胎儿和非诊断性CMA结果的回顾性审查.
- 在多学科审查后,对基因测试 (向基因,面板,外体) 的利用情况进行分析.
- 描述性分析以确定基于特定超声波发现和测试类型的诊断产量.
主要成果:
- 在114例病例中,有17例 (34%) 实现了基因诊断.
- 拉索病症测试产生了18.5%的诊断率,而外基因组测序实现了41.2%.
- 在胎儿水和孤立胎儿瘤的病例中观察到的诊断产量最高.
结论:
- 向测序,特别是RASopathy面板,为胎儿瘤的诊断提供了显著的收益率,并应与CMA一起被视为标准护理.
- 产前/产后发现的多学科审查和相关性对于指导进一步的测试,遗传咨询和管理至关重要,特别是在非免疫胎儿中.
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