Diagnostic Value of Next‐Generation Sequencing in Periprosthetic Joint Infection: A Systematic Review

Aims Use of molecular sequencing methods in periprosthetic joint infection (PJI) diagnosis and organism identification have gained popularity. Next-generation sequencing (NGS) is a potentially powerful tool that is now commercially available. The purpose of this study was to compare the diagnostic accuracy of NGS, polymerase chain reaction (PCR), conventional culture, the Musculoskeletal Infection Society (MSIS) criteria, and the recently proposed criteria by Parvizi et al in the diagnosis of PJI. Methods In this retrospective study, aspirates or tissue samples were collected in 30 revision and 86 primary arthroplasties for routine diagnostic investigation for PJI and sent to the laboratory for NGS and PCR. Concordance along with statistical differences between diagnostic studies were calculated. Results Using the MSIS criteria to diagnose PJI as the reference standard, the sensitivity and specificity of NGS were 60.9% and 89.9%, respectively, while culture resulted in sensitivity of 76.9% and specificity of 95.3%. PCR had a low sensitivity of 18.4%. There was no significant difference based on sample collection method (tissue swab or synovial fluid) (p = 0.760). There were 11 samples that were culture-positive and NGS-negative, of which eight met MSIS criteria for diagnosing infection. Conclusion In our series, NGS did not provide superior sensitivity or specificity results compared to culture. PCR has little utility as a standalone test for PJI diagnosis with a sensitivity of only 18.4%. Currently, several laboratory tests for PJI diagnosis should be obtained along with the overall clinical picture to help guide decision-making for PJI treatment. Cite this article: Bone Joint J 2021;103-B(1):26–31.

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Diagnostic value of next-generation sequencing to detect periprosthetic joint infection

BMC Musculoskeletal Disorders ◽

10.1186/s12891-021-04116-9 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Han Yin ◽

Duliang Xu ◽

Dawei Wang

Keyword(s):

Next Generation Sequencing ◽

Blood Cell ◽

Periprosthetic Joint Infection ◽

Bacterial Culture ◽

Joint Infection ◽

Diagnostic Value ◽

Infection Group ◽

Serological Biomarkers ◽

Generation Sequencing ◽

D Dimer

Abstract Background We herein compared the diagnostic value of next-generation sequencing (NGS), bacterial culture, and serological biomarkers to detect periprosthetic joint infection (PJI) after joint replacement. Methods According to the diagnostic criteria of the Musculoskeletal Infection Society, 35 patients who underwent joint revision surgery were divided into infection (15 cases) and non-infection (20 cases) groups, and were routinely examined preoperatively for erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), procalcitonin (PCT), interleukin-6 (IL-6), and D-dimer levels. All patients underwent arthrocentesis preoperatively. Synovial fluid was used for white blood cell count, white blood cell classification, bacterial culture, and NGS. Furthermore, we calculated the area under the curve (AUC) of the receiver operating characteristic curve (ROC) for ESR, CRP, PCT, IL-6, and D-dimer. Data were assessed by comparing diagnostic accuracy, sensitivity, and specificity. Results Fourteen patients showed positive results by NGS and seven showed positive bacterial culture results in the infection group; further, 18 showed negative results by NGS in the non-infection group. The AUC of ESR, D-dimer, CRP, IL-6, and PCT was 0.667, 0.572, 0.827, 0.767, and 0.808, respectively. The accuracy of NGS, bacterial culture, CRP, IL-6, and PCT was 0.91, 0.74, 0.77, 0.74, and 0.83, respectively. When comparing NGS with CRP, IL-6, PCT, and bacterial culture, differences in overall test results and those in sensitivity were statistically significant, and compared with CRP, differences in specificity were also statistically significant. In comparison with IL-6, PCT, and bacterial culture, the specificity of NGS was statistically insignificant. Conclusions Our results indicated that NGS had higher accuracy and sensitivity than the bacterial culture method and commonly used serological biomarkers for diagnosing PJI.

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Diagnosis of Streptococcus canis periprosthetic joint infection: the utility of next-generation sequencing

Arthroplasty Today ◽

10.1016/j.artd.2017.08.005 ◽

2018 ◽

Vol 4 (1) ◽

pp. 20-23 ◽

Cited By ~ 11

Author(s):

Majd Tarabichi ◽

Abtin Alvand ◽

Noam Shohat ◽

Karan Goswami ◽

Javad Parvizi

Keyword(s):

Next Generation Sequencing ◽

Periprosthetic Joint Infection ◽

Joint Infection ◽

Next Generation ◽

Streptococcus Canis ◽

Generation Sequencing

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Diagnostic Value of Next-Generation Sequencing to Detect Periprosthetic Joint Infection

10.21203/rs.3.rs-97251/v1 ◽

2020 ◽

Author(s):

Han Yin ◽

Duliang Xu ◽

Dawei Wang

Keyword(s):

Next Generation Sequencing ◽

Blood Cell ◽

White Blood Cell ◽

Periprosthetic Joint Infection ◽

Bacterial Culture ◽

Joint Infection ◽

Diagnostic Value ◽

Infection Group ◽

Generation Sequencing ◽

D Dimer

Abstract Background We herein compared the diagnostic value of next-generation sequencing (NGS), bacterial culture, and serological biomarkers to detect periprosthetic joint infection (PJI) after joint replacement. Methods According to the diagnostic criteria of the Musculoskeletal Infection Society, 35 patients who underwent joint revision surgery were divided into infection (15 cases) and non-infection (20 cases) groups, and were routinely examined preoperatively for erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), procalcitonin (PCT), interleukin-6 (IL-6), and D-dimer levels. All patients underwent arthrocentesis preoperatively. Synovial fluid was used for white blood cell count, white blood cell classification, bacterial culture, and NGS. Furthermore, we calculated the area under the curve (AUC) of the receiver operating characteristic curve (ROC) for ESR, CRP, PCT, IL-6, and D-dimer. Data were assessed by comparing diagnostic accuracy, sensitivity, and specificity. Results Fourteen patients showed positive results by NGS and seven showed positive bacterial culture results in the infection group; further, 18 showed negative results by NGS in the non-infection group. The AUC of ESR, D-dimer, CRP, IL-6, and PCT was 0.667, 0.572, 0.827, 0.767, and 0.808, respectively. The accuracy of NGS, bacterial culture, CRP, IL-6, and PCT was 0.91, 0.74, 0.77, 0.74, and 0.83, respectively. When comparing NGS with CRP, IL-6, PCT, and bacterial culture, differences in overall test results and those in sensitivity were statistically significant, and compared with CRP, differences in specificity were also statistically significant. In comparison with IL-6, PCT, and bacterial culture, the specificity of NGS was statistically insignificant. Conclusions Our results indicate that NGS is highly effective for diagnosing PJI.

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Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant

British Journal of Ophthalmology ◽

10.1136/bjophthalmol-2018-312347 ◽

2018 ◽

Vol 103 (3) ◽

pp. 428-435 ◽

Cited By ~ 5

Author(s):

Junting Huang ◽

Jiewen Fu ◽

Shangyi Fu ◽

Lisha Yang ◽

Kailai Nie ◽

...

Keyword(s):

Next Generation Sequencing ◽

Low Income ◽

Autosomal Recessive ◽

Diagnostic Value ◽

Consanguineous Marriage ◽

Chinese Family ◽

Next Generation ◽

Gyrate Atrophy ◽

Metabolic Analysis ◽

Generation Sequencing

Background/AimGyrate atrophy of the choroid and retina (GACR) is an extremely rare autosomal recessive inherited disorder characterised by progressive vision loss. To identify the disease-causing gene in a consanguineous Chinese pedigree with GACR, we aimed to accurately diagnose patients with GACR through a combination of next-generation sequencing (NGS) genetic diagnosis, clinical imaging and amino acid metabolic analysis.MethodsA consanguineous Chinese pedigree with GACR, including two patients, was recruited and a comprehensive ophthalmological evaluation was performed. DNA was extracted from a proband and her family members, and the sample from the proband was analysed using targeted NGS. Variants ‎detected by NGS were confirmed by Sanger sequencing and subjected to segregation analysis. Tandem mass spectrometry (MS/MS) was subsequently performed for metabolic assessment.ResultsWe identified a ‎novel, deleterious, homologous ornithine aminotransferase (OAT) variant, c.G248A: p.S83N, which contributes to ‎the progression of GACR in patients. Our results showed that the p.S83N autosomal recessive ‎variant of OAT is most likely ‎pathogenic, with changes in protein stability drastically decreasing functionality. MS/MS verified that ornithine levels in patients were significantly elevated.ConclusionsRecruitment of a third-degree first cousin consanguineous marriage family with GACR allowed us to identify a novel pathogenicOATvariant in the Chinese population, broadening the mutation spectrum. Our findings reported the diagnostic value of a combination of NGS, retinal imaging and metabolic analysis of consanguineous marriage pedigrees in low-income/middle-income and low-incidence countries, including China, and may help to guide accurate diagnosis and ‎treatment of this disease.

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