Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates
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1.Center for Molecular Medicine, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China

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    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 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 Among the 3 neonates, 2 neonates were withdrawn from the treatment due to severe conditions and 1 neonate died on the day when the sample was sent for genetic testing, whose etiology could be explained by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.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.

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肖非凡,卢宇蓝,吴冰冰,董欣然,程国强,胡黎园,周文浩,彭小敏,杨琳,王慧君.采用全基因组测序技术快速诊断危重症新生儿的临床实践[J].中国当代儿科杂志英文版,2023,(2):135-139

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History
  • Received:October 21,2022
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  • Online: October 27,2023
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