宏基因二代测序技术在新生儿重症监护室病原学诊断中的临床应用

Clinical application of metagenomics next generation sequencing on pathogen diagnosis in NICU

目的探讨宏基因二代测序技术(metagenomics next generation sequencing,mNGS)在新生儿重症监护室(neonatal intensive care unit,NICU)病原学诊断中的价值及其对临床决策的影响。方法回顾性选择2020年1月至2021年12月湖南省儿童医院NICU收治的疑似感染并同时行mNGS及传统病原学检测的新生儿为研究对象,分析mNGS在病原体检测中的敏感度、特异度及其对临床决策的影响。结果共纳入121例新生儿,男女性别比1.75∶1,足月儿64例,早产儿57例。mNGS阳性率为57.9%(70/121),明显高于传统检测方法(15.7%,19/121),差异有统计学意义(P<0.001)。mNGS诊断的敏感度为94.7%,特异度为49.0%,阳性预测值为25.4%,阴性预测值为98.0%。根据mNGS结果,调整了65例(53.7%)患儿的治疗决策。结论mNGS具有极高的敏感度,可提高NICU感染患儿的病原体诊断率,亦可用于除外感染,指导临床治疗。

Objective To study the clinical values of metagenomic next-generation sequencing(mNGS)on pathogen diagnosis and clinical decision-making in neonatal intensive care unit(NICU).Methods From January 2020 to December 2021,clinical data of neonates with suspected infections receiving both mNGS and traditional etiological tests in NICU of Hunan Children's Hospital were retrospectively reviewed.The sensitivity,specificity of mNGS,and the impacts on clinical management were analyzed.Results A total of 121 neonates were enrolled with a male to female ratio of 1.75∶1,including 57 preterm infants and 64 full-term infants.The positive rate of mNGS was significantly higher than traditional etiological tests[57.9%(70/121)vs.15.7%(19/121),P<0.001].The sensitivity,specificity,positive predictive value and negative predictive value of mNGS were 94.7%,49.0%,25.4%,and 98.0%,respectively.Based on mNGS results,clinical treatments were adjusted for 65 cases(53.7%).Conclusionsm NGS with a high sensitivity can improve pathogen diagnosis and rule out infections for better clinical decision-making in NICU.