Ouyang Xuejun, Zhang Yu, Yu Tian, Zhang Qian, Xu Lei, Zhang Victor Wei, Wang Bin
The Neonatal Intensive Care Unit, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
The Pediatric Intensive Care Unit, Hunan Provincial People's Hospital, Changsha, Hunan, China.
Front Genet. 2025 Mar 10;16:1526077. doi: 10.3389/fgene.2025.1526077. eCollection 2025.
This study evaluates the efficacy of rapid clinical exome sequencing (CES) and mitochondrial DNA (mtDNA) sequencing for diagnosing genetic disorders in critically ill pediatric patients.
A multi-centre investigation was conducted, enrolling critically ill pediatric patients suspected of having genetic disorders from March 2019 to December 2020. Peripheral blood samples from patients and their parents were analyzed using CES (proband-parent) and mtDNA sequencing (proband-mother) based on Next-Generation Sequencing (NGS) technology.
The study included 44 pediatric patients (24 males, 20 females) with a median age of 27 days. The median turnaround time for genetic tests was 9.5 days. Genetic disorders were diagnosed in 25 patients (56.8%): 5 with chromosome microduplication/deletion syndromes (11.3%), 1 with UPD-related disease (2.3%), and 19 with monogenic diseases (43.2%). variants were identified in nine patients (36.0%). A neonate was diagnosed with two genetic disorders due to a homozygous variant and an gene variation.
Rapid genetic diagnosis is crucial for critically ill pediatric patients with suspected genetic disorders. CES and mtDNA sequencing offer precise and timely results, guiding treatment and reducing mortality and disability, making them suitable primary diagnostic tools.
本研究评估快速临床外显子组测序（CES）和线粒体DNA（mtDNA）测序在诊断危重症儿科患者遗传疾病中的疗效。
进行了一项多中心调查，纳入2019年3月至2020年12月疑似患有遗传疾病的危重症儿科患者。基于下一代测序（NGS）技术，使用CES（先证者-父母）和mtDNA测序（先证者-母亲）对患者及其父母的外周血样本进行分析。
该研究纳入了44例儿科患者（24例男性，20例女性），中位年龄为27天。基因检测的中位周转时间为9.5天。25例患者（56.8%）被诊断出患有遗传疾病：5例患有染色体微重复/缺失综合征（11.3%），1例患有与单亲二倍体相关的疾病（2.3%），19例患有单基因疾病（43.2%）。在9例患者（36.0%）中鉴定出了变异。一名新生儿因纯合变异和基因变异被诊断出患有两种遗传疾病。
快速基因诊断对于疑似患有遗传疾病的危重症儿科患者至关重要。CES和mtDNA测序可提供准确及时的结果，指导治疗并降低死亡率和残疾率，使其成为合适的初步诊断工具。
