目的 评估宏基因组学第二代测序（metagenomics next‑generation sequencing, mNGS）技术在诊断疑似新生儿败血症和中枢神经系统感染中的病原体检出性能。 方法 回顾性纳入648例疑似新生儿败血症或中枢神经系统感染的患儿，共收集734份脑脊液和733份血液样本。对比同时进行mNGS检测和传统病原学培养的病原谱检出结果，并以临床诊断为金标准，比较两种方法的诊断效能。 结果 mNGS在脑脊液和血液样本中的病原体检出阳性率分别为15.3%和40.0%，均高于传统病原学培养（分别为1.4%和10.7%）。mNGS在脑脊液和血液中分别检出25种和40种病原体，高于传统病原学培养检出的4种和24种。mNGS还检测到包括脲原体、支原体在内的多种传统病原学培养难以检出的罕见病原体。另外，以临床诊断为标准，两种方法的检测性能结果显示，mNGS检出脑脊液和血液样本中病原体的灵敏度分别为50.4%及46.7%，而传统病原学培养法分别为5.8%及18.0%。 结论 mNGS技术相较于传统病原学培养法，能显著提升新生儿感染病原体的检出率，提供更全面的病原学信息，对实现新生儿感染的精准诊疗具有重要临床价值。

Objective To evaluate the performance of metagenomic next-generation sequencing (mNGS) in detecting pathogens in suspected neonatal sepsis and central nervous system infections. Methods This retrospective study included 648 neonates with suspected sepsis or central nervous system infections, with 734 cerebrospinal fluid and 733 blood samples collected. The pathogen spectra detected by mNGS and traditional culture were compared. Using clinical diagnosis as the gold standard, the diagnostic efficacy of the two methods was analyzed. Results The positive rates of pathogen detection by mNGS in cerebrospinal fluid and blood samples were 15.3% and 40.0%, respectively, significantly higher than those of traditional culture (1.4% and 10.7%, respectively). mNGS identified 25 and 40 distinct pathogenic species from cerebrospinal fluid and blood, respectively, exceeding the 4 and 24 species detected by culture. Ureaplasma, Mycoplasma, and other fastidious pathogens difficult to culture were detected exclusively by mNGS. Using clinical diagnosis as the reference, mNGS showed sensitivities of 50.4% (cerebrospinal fluid) and 46.7% (blood), compared to 5.8% and 18.0% for culture. Conclusions mNGS significantly improves pathogen detection rates in neonatal infections compared with traditional culture, provides more comprehensive pathogen information, and holds important clinical value for the precise diagnosis and treatment of neonatal infections.