【摘要】 目的 探索全基因组测序在危重症新生儿临床快速诊断中的应用。方法 前瞻性纳入2019年8—9月复旦大学附属儿科医院新生儿重症监护病房中进行核心家系全基因组测序的危重症患儿。结合测序数据和患儿的临床特征,分析患儿基因检测结果、临床转归。结果 共检测15例患儿,男9例,女6例。主要入院原因为呼吸异常7例,反应差、喂养困难各2例,发热、低体温、早产、抽搐各1例。全基因组测序平均检测周期为4.5 d。最终,3例患儿获得基因诊断,诊断阳性率为20%(3/15)。其中,2例患儿因病情较重,父母放弃治疗;1例患儿于送检样本当日死亡,基因检测结果可解释病因。结论 全基因组测序技术可为临床怀疑遗传性疾病的危重症新生儿提供及时有效的诊断,为临床处置危重症病例提供遗传学依据。[中国当代儿科杂志,2023,25 (2):135-139]更多还原

【Abstract】 Objective To explore the application of whole-genome sequencing(WGS) in the rapid clinical diagnosis of critically ill neonates.Methods The critically ill neonates who admitted to the neonatal intensive care unit of Children’s Hospital of Fudan University and underwent WGS from August to September,2019 were enrolled in this prospective study.The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates.Results A total of 15 neonates were tested,among whom there were 9 boys and 6girls.The main reason for hospitalization included abnormal breathing in 7 neonates,poor response in 2 neonates,feeding difficulty in 2 neonates,fever in 1 neonate,hypothermia in 1 neonate,preterm birth in 1 neonate,and convulsion in 1 neonate.The mean turn-around time was 4.5 days for WGS.Finally a genetic diagnosis was obtained for 3 neonates,with a positive diagnostic rate of 20%(3/15).Among the 3 neonates,2 neonates were withdrawn from the treatment due to severe conditions and 1 neonate died on the day when the sample was sent for genetic testing,whose etiology could be explained by the results of genetic testing.Conclusions WGS technique can provide a timely and effective diagnosis for critically ill neonates suspected of genetic diseases and provide genetic evidence for clinical treatment of critically ill cases.[Chinese Journal of Contemporary Pediatrics,2023,25(2):135-139]更多还原