Alotibi Raniah S, Sannan Naif S, AlEissa Mariam, Aldriwesh Marwh G, Al Tuwaijri Abeer, Akiel Maaged A, Almutairi Mashael, Alsamer Alhanouf, Altharawi Nouf, Aljawfan Ghadah, Alotiabi Badi, AlBlawi Mohammed A, Alfares Ahmed
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.
King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
Front Pediatr. 2023 Mar 1;11:1133789. doi: 10.3389/fped.2023.1133789. eCollection 2023.
Neurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a combination of various forms of therapy. In recent years, the development of high-resolution technologies has played an important role in revealing the microdeletions, microduplications, and single-nucleotide variants of the chromosomes and how they are linked to the development of neurodevelopmental disorders. The wide implementation and application of molecular methodologies have started to shed light on the functional importance of using the appropriate methods in detecting these genetic variations that are categorized as either pathogenic or benign. The study aimed to compare the diagnostic yield of comparative hybridization (CGH) and whole exome sequencing (WES) in neurodevelopmental disorders among children attending the King Abdullah Specialist Children Hospital, Riyadh, Saudi Arabia.
A retrospective study was conducted between 2015 and 2018 on 105 patients diagnosed with neurodevelopmental disorders through array-based CGH (Array-CGH) and WES.
In a sample of 105 patients, 16% was the hit rate of copy number variations (CNVs). WES was requested for CNV-negative patients ( = 79), of which 30% was the hit rate of pathogenic or likely pathogenic single-nucleotide variants. There was a difference in the diagnostic yield between CGH (16%) and WES (30%).
WES was a better approach than Array-CGH to detect various DNA mutations or variants. Our findings could guide clinicians, researchers, and testing laboratories select the most cost-effective and appropriate approach for diagnosing their patients.
神经发育障碍是一组以发育迟缓导致脑功能异常为特征的疾病。这些疾病的诊断和治疗方法复杂，其治疗涉及多种形式疗法的联合应用。近年来，高分辨率技术的发展在揭示染色体的微缺失、微重复和单核苷酸变异以及它们如何与神经发育障碍的发生相关联方面发挥了重要作用。分子方法的广泛实施和应用已开始阐明在检测这些被分类为致病或良性的基因变异时使用适当方法的功能重要性。本研究旨在比较沙特阿拉伯利雅得阿卜杜拉国王专科医院就诊儿童中，比较基因组杂交（CGH）和全外显子组测序（WES）在神经发育障碍诊断中的检出率。
2015年至2018年对105例通过基于芯片的CGH（Array-CGH）和WES诊断为神经发育障碍的患者进行了一项回顾性研究。
在105例患者样本中，拷贝数变异（CNV）的检出率为16%。对CNV阴性患者（n = 79）进行了WES检测，其中致病或可能致病的单核苷酸变异检出率为30%。CGH（16%）和WES（30%）的诊断检出率存在差异。
WES在检测各种DNA突变或变异方面是比Array-CGH更好的方法。我们的研究结果可为临床医生、研究人员和检测实验室选择最具成本效益和合适的方法来诊断患者提供指导。
