Xiao Fei-Fan, Lu Yu-Lan, Wu Bing-Bing, Dong Xin-Ran, Cheng Guo-Qiang, Hu Li-Yuan, Zhou Wen-Hao, Peng Xiao-Min, Yang Lin, Wang Hui-Jun
Center for Molecular Medicine, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Feb 15;25(2):135-139. doi: 10.7499/j.issn.1008-8830.2210096.
To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates.
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.
A total of 15 neonates were tested, among whom there were 9 boys and 6 girls. 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 Among the 3 neonates, 2 neonates were withdrawn from the treatment due to severe conditions and 1 neonate died on the day when the sample was sent for genetic testing, whose etiology could be explained by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.
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.
探讨全基因组测序（WGS）在危重新生儿快速临床诊断中的应用。
本前瞻性研究纳入了2019年8月至9月入住复旦大学附属儿科医院新生儿重症监护病房并接受WGS检测的危重新生儿。参照新生儿的测序数据和临床特征，分析基因检测结果及临床结局。
共检测15例新生儿，其中男9例，女6例。住院的主要原因包括7例新生儿呼吸异常、2例反应差、2例喂养困难、1例发热、1例体温过低、1例早产和1例惊厥。WGS的平均周转时间为4.5天。最终3例新生儿获得基因诊断，阳性诊断率为20%（3/15）。在这3例新生儿中，2例因病情严重退出治疗，1例在送检基因检测当天死亡，其病因可由基因检测结果解释。
WGS技术可为疑似遗传疾病的危重新生儿提供及时有效的诊断，并为危重症病例的临床治疗提供遗传学依据。
