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在胎儿结构异常中染色体微阵列和整个外体序列的诊断性能:单中心回顾性研究

Leyla Özer¹, Süleyman Aktuna², Evrim Ünsal³

¹Mikrogen Genetic Diagnosis Center, Reşit Galip Caddesi 18/2, Çankaya, Ankara, Turkey. leyla_ozer@yahoo.com.

BMC pregnancy and childbirth

|October 6, 2025

概括

染色体微阵列分析 (CMA) 和全外体测序 (WES) 有助于诊断胎儿的结构异常. WES提供了更高的诊断产量,特别是对于中枢神经系统和骨异常,补充了CMA的作用.

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:

胎儿结构异常影响3%至5%的怀孕,需要进行基因检测来诊断.
识别遗传因素 (染色体或单基因) 对于理解这些异常至关重要.
产前诊断依赖于基因测试来确定胎儿结构异常的原因.

研究的目的:

评估染色体微阵列分析 (CMA) 和全外体序列测序 (WES) 的诊断产量和临床效率.
通过产前超声波检测到的结构异常的胎儿诊断中评估CMA和WES.
探索具有结构异常的胎儿的基因型-表型相关性.

主要方法:

对391个胎儿进行了回顾性分析,通过超声波检测出结构异常.
对310名胎儿进行染色体微阵列分析 (CMA);对81名胎儿进行全外体序列测序 (WES),之前的CMA为负.
使用ACMG指南对变种进行分类,并分为9个表型类别进行分层.

主要成果:

在4.2%的病例中,CMA确定了致病副本数变体 (CNV).
整体外体测序 (WES) 揭示了在22.2%的病例中具有先前负的CMA.的病原变异.
中枢神经系统 (46.1%) 和骨异常 (38.8%) 的诊断收益率最高.

结论:

CMA和WES为胎儿结构异常提供了互补的诊断价值.
WES显著增加了诊断产量,特别是在负CMA结果和特定表型后.
准确的表型和战略性测试选择是最佳产前遗传诊断的关键.

关键词:

染色体异常染色体异常胎儿异常胎儿异常胎儿诊断胎儿诊断胎儿诊断基因型-表型相关性相关性整体外基因组测序的测序

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