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在怀疑罕见疾病的儿童中,阵列-CGH的诊断产量

M Carla Criado-Muriel¹, Ramón Arroyo-Ruiz², Elena Marcos-Vadillo³

¹University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Salamanca (USAL), Department of Biomedical and Diagnostics Science, Salamanca, Spain.

Jornal de pediatria

|September 25, 2025

概括

阵列比较基因组杂交 (aCGH) 在儿科罕见疾病中显示了12.2%的诊断收益率. 这种测试对于早期诊断和改善患有复杂临床症状的儿童的管理非常有价值.

科学领域:

医学遗传学医学遗传学
儿科罕见病儿科罕见病

背景情况:

数组比较基因组杂交 (aCGH) 是诊断儿童罕见遗传疾病的关键工具.
了解不同临床表现的诊断产量对于优化其使用至关重要.

研究的目的:

评估aCGH在疑似罕见疾病的儿科患者的诊断产量和有效性.
分析诊断值如何随特定临床症状而变化.

主要方法:

600个儿科aCGH测试 (2018-2022) 的观察性研究.
从外围血液中获取的DNA分析,分辨率调整为临床特征.
根据国际准则对副本数变异 (CNV) 的分类;对40个变量进行分析.

主要成果:

在543名儿科患者中观察到12.2%的诊断产量,其中12.4%的病原性CNV被确定.
常见的征兆包括改变的表型,自闭症谱系障碍和全球发育迟缓.
在有协调障碍,学习障碍和小头症的患者中,产量最高.

结论:

aCGH是儿科罕见病的有效一线诊断工具,诊断率为12.2%.
该测试在患有多种临床表现的儿童中特别有价值,有助于早期诊断和管理.
aCGH促进了对罕见遗传疾病的改善临床护理和家庭咨询.

关键词:

阵列比较的基因组杂交.临床遗传学临床遗传学副本数量变化的变化遗传诊断是一种基因诊断.儿科神经学儿科神经学罕见疾病是一种罕见的疾病.

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