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在骨系统异常的胎儿中,产前外体序列的增量产量:系统性审查和元分析

Yan Wang¹, Yuan Lv², Jia Yao¹

¹Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, China.

Acta obstetricia et gynecologica Scandinavica

|November 29, 2024

概括

产前外体序列测定 (ES) 显著改善了对胎儿骨异常的诊断,产率为60.2%. 这种基因测试对于识别特定疾病和为临床咨询提供信息是有价值的.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
骨发育不良症骨发育不良症

背景情况:

在胎儿骨异常中,遗传因素至关重要.
产前外体序列测序 (ES) 提供先进的分子诊断.
之前的研究表明,在这些情况下,ES的诊断产量是可变的.

研究的目的:

系统地审查和元分析ES的增量诊断产量.
评估ES在阴性染色体微阵列或型化后具有骨异常的胎儿中的实用性.
为了评估胎儿骨异常不同亚型的产量.

主要方法:

在PubMed,Embase,Web of Science和Cochrane图书馆进行系统的文献搜索,直到2022年11月.
包括观察性研究,其中至少有五例骨异常经历ES.
使用单一比例分析和增量收益率的95%置信区间 (CI) 的元分析.

主要成果:

在所有被纳入胎儿中,ES的综合增量收益率为60.2% (95% CI,53.4%-66.9%).
亚组分析显示,单独发育不良 (83.9%) 和综合表型 (74.5%-83.0%) 的高产量.
病原性变异起源 (de novo与遗传) 在骨异常亚型之间有所不同.

结论:

外体序列测序表明,对于胎儿骨异常,有利的增量诊断产量.
了解亚型特定的遗传模式有助于个性化临床遗传咨询.
ES是一种强大的工具,用于诊断胎儿骨状况的遗传原因.

关键词:

有先天性异常.外基因组测序是指外基因组的测序.这是一个元分析.产前诊断产前诊断产前诊断骨的异常骨的异常

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