Pooled Diagnostic Yield Research Articles

Additional benefit of endoscopic ultrasound with bronchoscope-guided fine needle aspiration to endobronchial ultrasound-guided transbronchial needle aspiration in the evaluation of lung cancer: a systematic review and meta-analysis.

Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) and endoscopic ultrasound with bronchoscope-guided fine needle aspiration (EUS-B-FNA) are minimally invasive procedures for the diagnosis and staging of lung cancer. This study aimed to investigate the additional diagnostic value of EUS-B-FNA following EBUS-TBNA. We performed a systematic literature review of PubMed, Embase, and the Cochrane Central Register databases and extracted the studies reporting the implementation of the combined EBUS-TBNA/EUS-B-FNA. A proportional meta-analysis was conducted to determine the pooled diagnostic yield of this procedure. We identified nine studies involving 2,375 patients. The overall pooled diagnostic yield of EBUS-TBNA alone and combined EBUS-TBNA/EUS-B-FNA was 0.87 [95% confidence interval (CI): 0.79-0.95, I2=96.55%] and 0.92 (95% CI: 0.85-0.99, I2=97.89%), respectively. Adding EUS-B-FNA to EBUS-TBNA increased the diagnostic yield by approximately 0.05. There was statistical heterogeneity among the studies (I2=54.49%). Among the 832 patients in seven studies, additional diagnostic benefits of EUS-B-FNA were observed in 37 lesions. The most common diagnosed lesion was in station 4L (n=10), followed by station 5 (n=8) and station 7 (n=8). In pooled estimates, the addition of EUS-B-FNA to EBUS-TBNA increased the diagnostic yield for the diagnosis and staging of lung cancer. Nodal station 4L, station 5, and station 8 were lesions frequently diagnosed by the addition of EUS-B-FNA. Because of statistical between-study heterogeneity, our findings should be interpreted with caution.

Improved diagnostic yield of peripheral pulmonary malignant lesions with emphysema using a combination of radial endobronchial ultrasonography and rapid on-site evaluation

BackgroundThis is a retrospective cohort study from a single center of Chest Medical District of Nanjing Brain Hospital Affiliated to Nanjing Medical University, Jiangsu Province, China. It was aim to evaluate the diagnostic value of radial endobronchial ultrasound (R-EBUS) combination with rapid on-site evaluation (ROSE) guided transbronchial lung biopsy (TBLB) for peripheral pulmonary lesions in patients with emphysema.MethodsAll 170 patients who underwent PPLs with emphysema received an R-EBUS examination with or without the ROSE procedure, and the diagnostic yield, safety, and possible factors influencing diagnosis were analyzed between the two groups by the SPSS 25.0 software.ResultsThe pooled and benign diagnostic yields were not different in the two groups (P = 0.224, 0.924), but the diagnostic yield of malignant PPLs was significantly higher in the group with ROSE than the group without ROSE (P = 0.042). The sensitivity of ROSE was 79.10%, the specificity, 91.67%, the positive predictive value, 98.15%, and the negative predictive value, 84.62%. The diagnostic accuracy, was 95.52%. In the group of R-EBUS + ROSE, the procedural time and the number of times of biopsy or brushing were both significantly reduced (all P<0.05). The incidence of pneumothorax (1.20%) and bleeding (10.84%) in the group of R-EBUS + ROSE were also less than those in the group of R-EBUS (P<0.05). The lesion’s diameter ≥ 2 cm, the distance between the pleura and the lesion ≥ 2 cm, the positive air bronchograms sign, the location of the ultrasound probe within the lesion, and the even echo with clear margin feature of lesion ultrasonic image, these factors are possibly relevant to a higher diagnostic yield. The diagnostic yield of PPLs those were adjacent to emphysema were lower than those PPLs which were away from emphysema (P = 0.048) in the group without ROSE, however, in the group of R-EBUS + ROSE, there was no such difference whether the lesion is adjacent to emphysema or not (P = 0.236).ConclusionOur study found that the combination of R-EBUS and ROSE during bronchoscopy procedure was a safe and effective modality to improve diagnostic yield of PPLs with emphysema, especially for malignant PPLs. The distance between the pleura and the lesion ≥ 2 cm, the positive air bronchograms sign, the location of the ultrasound probe within the lesion, and the even echo with clear margin feature of lesion ultrasonic image, these factors possibly indicated a higher diagnostic yield. Those lesions’ position is adjacent to emphysema may reduce diagnostic yield but ROSE may make up for this deficiency.

Comparison between Endobronchial Ultrasound-Guided Transbronchial Node Biopsy and Transbronchial Needle Aspiration: A Meta-Analysis.

Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) can be limited by the inadequacy of intact tissues, especially in patients with lymphoma, sarcoidosis, and lymph node tuberculosis. A novel technique called transbronchial node biopsy (TBNB) by forceps or cryoprobe has been proposed and studied to improve specimen quality and diagnostic yield. We performed a systematic review of studies describing the safety and sensitivity of EBUS-TBNB versus EBUS-TBNA in diagnosing intrathoracic lymphadenopathy/masses. We systematically searched MEDLINE, Embase, Cochrane, and China National Knowledge Infrastructure to identify studies focusing on the application of EBUS-TBNB for diagnosis of intrathoracic lymphadenopathy. The quality of each study was evaluated using the QUADAS-2 tool. Using inverse-variance (I-V) weighting, we performed a meta-analysis of diagnostic yield estimations. We also reviewed the complications related to the procedure. Thirteen studies were included in the final analysis. The meta-analysis yielded a pooled overall diagnostic yield of 77.80% (939/1,207) for EBUS-TBNA and 86.01% (834/958) for EBUS-TBNB, with an inverse-variance-weighted odds ratio of 3.13 (95% confidence interval [CI], 1.61-6.01; p = 0.0008) and I2 of 82%. The pooled diagnostic yield of EBUS-TBNB versus EBUS-TBNA for the diagnosis of malignancy (including primary lung cancer and extrapulmonary malignancy) was 84.53% (590/698) for EBUS-TBNA and 90.84% (476/524) for EBUS-TBNB, with an I-V-weighted OR of 2.33 (95% CI, 1.15-4.74; p = 0.02) and I2 of 64%. The pooled diagnostic yield of EBUS-TBNB versus EBUS-TBNA for the diagnosis of benignancy was 71.19% (252/354) for EBUS-TBNA and 86.62% (233/269) for EBUS-TBNB, with an I-V-weighted OR of 4.39 (95% CI, 2.00-9.65; p = 0.002) and I2 of 59%. The overall complications included bleeding (n = 11, 0.90%), pneumomediastinum (n = 6, 0.49%), pneumothorax (n = 6, 0.49%), pneumonia (n = 4, 0.33%), respiratory failure (n = 1, 0.08%), and haemoptysis (n = 1, 0.08%). The funnel plot analysis illustrated no major publication bias. EBUS-TBNB improves the overall diagnostic yield of sampling intrathoracic lymphadenopathy and mass lesions relative to EBUS-TBNA. The complication rate of EBUS-TBNB is higher than that of EBUS-TBNA but reportedly lower than that of surgical biopsies.

Diagnostic yield and safety of diagnostic techniques for pulmonary lesions: systematic review, meta-analysis and network meta-analysis.

With recent advancements in bronchoscopic procedures, data on the best modality to sample peripheral pulmonary lesions (PPLs) is lacking, especially comparing bronchoscopy with computed tomography-guided transthoracic biopsy or needle aspiration (CT-TBNA). We performed a meta-analysis, pairwise meta-analysis and network meta-analysis on studies reporting diagnostic yield and complications with the use of CT-TBNA, radial endobronchial ultrasound (rEBUS), virtual bronchoscopy (VB), electromagnetic navigation (EMN) or robot-assisted bronchoscopy (RAB) to sample PPLs. The primary outcome was diagnostic yield and the secondary outcome was complications. We estimated the relative risk ratios using a random-effects model and used the frequentist approach for the network meta-analysis. We performed extensive analysis to assess the heterogeneity including reporting bias, publication bias, subgroup and meta-regressional analysis. We assessed the quality of the studies using Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) and QUADAS-Comparative (QUADAS-C). We included 363 studies. The overall pooled diagnostic yield was 78.1%, the highest with CT-TBNA (88.9%), followed by RAB (84.8%) and the least with rEBUS (72%). In the pairwise meta-analysis, only rEBUS showed inferiority to CT-TBNA. The network meta-analysis ranked CT-TBNA as likely the most effective approach followed by VB, EMN and RAB, while rEBUS was the least effective, with a low-GRADE certainty. CT-TBNA had the highest rate of complications. Although CT-TBNA is the most effective approach to sample PPLs, RAB has a comparable diagnostic yield with a lesser complication rate. Further prospective studies are needed comparing CT-TBNA and RAB.

Utility and safety of endobronchial ultrasound-guided transbronchial mediastinal cryobiopsy (EBUS-TMC): A systematic review and meta-analysis.

Modalities to improve tissue acquisition during endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) have been investigated. Endobronchial ultrasound-guided transbronchial mediastinal cryobiopsy (EBUS-TMC) is a modality to obtain larger histological samples by inserting a cryoprobe into the mediastinal lesion. We aimed to study the diagnostic yield and safety of EBUS-TMC. We performed a systematic search of the PubMed and Embase databases to extract the relevant studies. We then performed a meta-analysis to calculate the diagnostic yield of EBUS-TMC and compare it with EBUS-TBNA. Following a systematic search, we identified 14 relevant studies (869 patients undergoing EBUS-TMC and EBUS-TBNA). We then performed a meta-analysis of the diagnostic yield of EBUS-TMC and EBUS-TBNA from studies wherein both procedures were performed. The pooled diagnostic yield of EBUS-TMC was 92% (95% confidence interval [CI], 89%-95%). The pooled diagnostic yield of EBUS-TBNA was 81% (95% CI, 77%-85%). The risk difference in yield was 11% (95% CI, 6%-15%, I2 = 0%) when EBUS-TMC and EBUS-TBNA were compared. The only complication reported commonly with EBUS-TMC was minor bleeding. The complication rate was comparable with EBUS-TBNA. EBUS-TMC provides a greater diagnostic yield with a similar risk of adverse events compared to EBUS-TBNA. Future studies are required to clearly establish which patients are most likely to benefit from this modality.

Role of Novel Motorized Enteroscopy in the Evaluation of Small Bowel Diseases: A Systematic Review and Meta-analysis.

Motorized spiral enteroscopy (MSE) has recently been introduced for small bowel evaluation. In this systematic review and meta-analysis, we aim to evaluate the safety and efficacy of MSE for evaluation of small bowel diseases. A literature search was performed in Embase, PubMed, Medline databases for studies evaluating MSE between January -2010 and October-2022. The primary outcome of the study was diagnostic yield with MSE. Secondary outcomes included technical success, procedure duration, depth of maximum insertion (DMI), rate of pan-enteroscopy and adverse events. 10 studies with 961 patients [581 (60.5%) males] were included in the analysis. 1068 MSE procedures were performed by antegrade route in 698, retrograde route in 215 and bidirectional in 155 patients. Technical success was achieved in 94.9% (95% CI 92.9% to 96.4%) procedures. The pooled diagnostic yield of MSE was 73.7% (95% CI 70.7% to 76.4%). Pooled rate of pan-enteroscopy by antegrade route was 21.9% (95% CI 18.1% to 26.1%), retrograde route was 6.9% (95% CI 2.4% to 18.3%) and combined route was 61.2% (95% CI 52.4% to 69.3%). Pooled rate of major adverse events was 1.9% (95% CI 1.2% to 3.2%). MSE is a safe and effective tool for evaluating small bowel disorders. High diagnostic yield and low rate of adverse events make it a potential alternative to balloon enteroscopy. However, comparative trials are required in the future.

Radial endobronchial ultrasound - guided bronchoscopy for the diagnosis of peripheral pulmonary lesions: A systematic review and meta-analysis of prospective trials

BackgroundThe diagnostic yield of radial endobronchial ultrasound (r-EBUS) for the diagnosis of peripheral pulmonary lesions (PPLs) varies between studies and is affected by multiple factors. We aimed to evaluate the efficacy and safety of r-EBUS, and to explore the factors influencing the diagnostic yield of r-EBUS in patients with PPLs. MethodsThe PubMed, Web of Science, and EMBASE databases were searched to identify relevant studies that used r-EBUS for diagnosing PPLs from the date of inception to Dec 2022. Meta-analysis was conducted using Review Manager 5.4 and Stata 15.1. ResultsAn analysis of 46 studies with a total of 7252 PPLs was performed. The pooled diagnostic yield of r-EBUS was 73.4 % (95 % CI: 69.9%–76.7 %), with significant heterogeneity detected among studies (I2 = 90 %, P < 0.001). Further analysis demonstrated PPLs located in the middle or lower lobe, >2 cm in size, malignant in type, solid in appearance on computerized tomography (CT), present in bronchus sign, the within probe location, and the addition of rapid on-site evaluation (ROSE) were associated with increased diagnostic yield, whereas use of a guide sheath (GS), bronchoscopy type, and a multimodality approach failed to influence the outcome. The pooled incidence rates of overall complications, pneumothorax and moderate and severe bleeding were 3.1 % (95 % CI: 2.1%–4.3 %), 0.4 % (95 % CI: 0.1%–0.7 %) and 1.1 % (95 % CI: 0.5%–2.0 %), respectively. Conclusionsr-EBUS has an appreciable diagnostic yield and an excellent safety manifestation when used to deal with PPLs.

Robotic-assisted bronchoscopy for the diagnosis of peripheral pulmonary lesions: A systematic review and meta-analysis.

Robotic-assisted bronchoscopy (RAB) is a newly developed bronchoscopic technique for the diagnosis of peripheral pulmonary lesions (PPLs). The objective of this meta-analysis was to analyze the diagnostic yield and safety of RAB in patients with PPLs. Five databases (PubMed, Embase, Web of Science, CENTRAL, and ClinicalTrials.gov) were searched from inception to April 2023. Two independent investigators screened retrieved articles, extracted data, and assessed the study quality. The pooled diagnostic yield and complication rate were estimated. Subgroup analysis was used to explore potential sources of heterogeneity. Publication bias was assessed using funnel plots and the Egger test. Sensitivity analysis was also conducted to assess the robustness of the synthesized results. A total of 725 lesions from 10 studies were included in this meta-analysis. No publication bias was found. Overall, RAB had a pooled diagnostic yield of 80.4% (95% CI: 75.7%-85.1%). Lesion size of >30 mm, presence of a bronchus sign, and a concentric radial endobronchial ultrasound view were associated with a statistically significantly higher diagnostic yield. Heterogeneity exploration showed that studies using cryoprobes reported better yields than those without cryoprobes (90.0%, 95% CI: 83.2%-94.7% vs. 79.0%, 95% CI: 75.8%-82.2%, p < 0.01). The pooled complication rate was 3.0% (95% CI: 1.6%-4.4%). In conclusion, RAB is an effective and safe technique for PPLs diagnosis. Further high-quality prospective studies still need to be conducted.

The Diagnostic Yield of Cone Beam CT Combined With Radial-Endobronchial Ultrasound for the Diagnosis of Peripheral Pulmonary Nodules: Systematic Review and Meta-Analysis

BackgroundIdentification of peripheral pulmonary nodules (PPNs) are becoming increasingly common with modern imaging and lung cancer screening programs. Navigational bronchoscopy has been developed to augment the diagnostic yield of sampling these nodules. Cone beam computed tomography (CBCT) is one navigational tool which can be used alongside the historical gold standard of fluoroscopy and radial endobronchial ultrasound (r-EBUS). Research questionsTo assess the diagnostic yield and safety profile of combining CBCT with r-EBUS for the diagnosis of PPNs. Study design and methodsEmbase, PubMed and Cochrane Central were searched in March 2023. Eligible studies used CBCT with r-EBUS as the primary navigation technique. The primary outcome; diagnostic yield, was analysed using random effects meta-analysis. Additional subgroup analysis was based on the use of additional navigational technologies. Risk of bias was assessed using the Critical Appraisal Skills programme (CASP) tool for diagnostic studies. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) tool was used to assess the quality of outcomes. ResultsFourteen studies (n=865 patients, n=882 lesions) were included. The risk of bias was significant as assessed using the CASP tool, which identified multiple confounders. The pooled diagnostic yield of combined CBCT and r-EBUS guided biopsy for the diagnosis of PPNs was 80% (95%CI 76-84%). Subgroup analysis of diagnostic yield for CBCT and r-EBUS alone was 80% (95%CI 76-83%). The diagnostic yield of CBCT, r-EBUS combined with additional navigational technology (electromagnetic navigational bronchoscopy, virtual bronchoscopic navigation and robotic assisted bronchoscopy) was 80% (95%CI 73-87%). The quality of outcomes was assessed as low to very low using the GRADE tool. There was a 2.01% pneumothorax rate and 1.08% bleeding rate. Although heterogeneously reported, total radiation dose was between 19.59Gycm2 and 85.9Gycm2 resulting in an approximate effective dose range of 3.1 to 13.8mSv InterpretationCBCT and r-EBUS for the diagnosis of PPN’s has a high diagnostic yield and acceptable safety profile. Studies showed moderate heterogeneity with significant bias and hence generalizability of the study is limited and further prospective trials are required. Trial RegistrationProspero CRD42023410221

Robotic-assisted Navigation Bronchoscopy: A Meta-Analysis of Diagnostic Yield and Complications.

Robotic-assisted navigation bronchoscopy (RANB) is a novel method to biopsy lung nodules, with initial reports demonstrating excellent accuracy. We aimed to evaluate pooled estimates of diagnostic yields and complication rates with RANB by performing a meta-analysis of the available literature. We searched 3 databases, including PubMed, EmBase, and Web of Science. The resulting abstracts were reviewed by 2 investigators. Analyses were performed using random effects models, and diagnostic yield and complication rates were estimated after the Freeman-Tukey transformation. A total of 23 articles, comprising 1409 patients and 1541 nodules, were included in the final analysis. Mean ages ranged from 63.2 to 69.3 years. The average size of the nodules ranged between 5.9 and 25.0mm. Most patients (54.0% to 92.0%) had a current or prior smoking history in studies that reported them (n=8). The pooled diagnostic yield was 81.9% (12 studies, 838 nodules, 95% CI: 83.4%-91.0%), and the pooled sensitivity for malignancy was 87.6% (8 studies, 699 nodules, 95% CI: 81.3%-89.5%). The pooled incidence of pneumothorax rates was 0.60% (95% CI: 0.11%-1.35%). The pooled incidence of major bleeding was <0.01%. Diagnostic yield for patients with pulmonary nodules undergoing RANB is high, though may be impacted by the prevalence of malignancy, participant selection, and publication bias. Complication rates, including pneumothoraces and bleeding rates, appear low across all studies. If RANB is available, clinicians should consider utilizing this platform to biopsy pulmonary nodules.

The diagnostic yield of nasopharyngeal aspirate for pediatric pulmonary tuberculosis: a systematic review and meta-analysis

BackgroundTuberculosis (TB) is a leading cause of death in children, but many cases are never diagnosed. Microbiological diagnosis of pulmonary TB is challenging in young children who cannot spontaneously expectorate sputum. Nasopharyngeal aspirates (NPA) may be more easily collected than gastric aspirate and induced sputum and can be obtained on demand, unlike stool. However, further information on its diagnostic yield is needed.MethodsWe systematically reviewed and meta-analyzed the diagnostic yield of one NPA for testing by either culture or nucleic acid amplification testing (NAAT) to detect Mycobacterium tuberculosis from children. We searched three bibliographic databases and two trial registers up to 24th November 2022. Studies that reported the proportion of children diagnosed by NPA compared to a microbiological reference standard (MRS) were eligible. Culture and/or WHO-endorsed NAAT on at least one respiratory specimen served as the MRS. We also estimated the incremental yield of two NPA samples compared to one and summarized operational aspects of NPA collection and processing. Univariate random-effect meta-analyses were performed to calculate pooled diagnostic yield estimates.ResultsFrom 1483 citations, 54 were selected for full-text review, and nine were included. Based on six studies including 256 children with microbiologically confirmed TB, the diagnostic yield of NAAT on one NPA ranged from 31 to 60% (summary estimate 44%, 95% CI 36–51%). From seven studies including 242 children with confirmed TB, the diagnostic yield of culture was 17–88% (summary estimate 58%, 95% CI 42–73%). Testing a second NPA increased the yield by 8–19% for NAAT and 4–35% for culture. NPA collection procedures varied between studies, although most children had NPA successfully obtained (96–100%), with a low rate of indeterminate results (< 5%). Data on NPA acceptability and specifically for children under 5 years were limited.ConclusionsNPA is a suitable and feasible specimen for diagnosing pediatric TB. The high rates of successful collection across different levels of healthcare improve access to microbiological testing, supporting its inclusion in diagnostic algorithms for TB, especially if sampling is repeated. Future research into the acceptability of NPA and how to standardize collection to optimize diagnostic yield is needed.

Diagnostic Performance and Safety Profile of Robotic-assisted Bronchoscopy: A Systematic Review and Meta-Analysis.

Rationale: Conventional electromagnetic navigation bronchoscopy and other guided bronchoscopic modalities have a very desirable safety profile, but their diagnostic yield is only 60-70% for pulmonary lesions. Recently, robotic-assisted bronchoscopy (RAB) platforms have been introduced to improve the diagnostic performance of bronchoscopic modalities. Objectives: To determine the diagnostic performance and safety profile of RAB (using shape-sensing and electromagnetic navigation-based platforms) by performing a systematic review and meta-analysis. Methods: The PubMed, Embase, and Google Scholar databases were searched to find studies that reported on the diagnostic performance and/or the safety profile of one of the RAB systems. The quality of included studies was assessed using the Quality Assessment of Diagnostic Accuracy Studies 2 tool. Meta-analysis was performed using MedCalc version 20.118. Pooled diagnostic yield was calculated using a Freeman-Tukey transformation. We planned to use a random-effects model if the I2 index was >40%. Results: Twenty-five studies were included: 20 including diagnostic and safety analyses and 5 including only safety analyses. The pooled diagnostic yield of RAB (20 studies, 1,779 lesions) was 84.3% (95% confidence interval, 81.1-87.2%). The I2 index was 65.6%. On the basis of our subgroup analyses, the heterogeneity was likely driven by differences in study designs (prospective vs. retrospective) and procedural protocols (such as different RAB systems). Lesion size > 2 cm, the presence of a computed tomography bronchus sign, and concentric radial endobronchial ultrasound view were associated with a statistically significant increase in the odds of diagnosis with RAB. The overall rates of pneumothorax, need for tube thoracostomy, and significant hemorrhage were 2.3%, 1.2%, and 0.5%, respectively. Conclusions: RAB systems have significantly increased the diagnostic yield of navigational bronchoscopy compared with conventional systems such as electromagnetic navigation bronchoscopy, but well-designed prospective studies are needed to better understand the impact of various factors, such as the use of three-dimensional imaging modalities, cryobiopsy, and specific ventilatory protocols, on the diagnostic yield of RAB.

The Role of Genetic Testing in Pediatric Renal Diseases: Diagnostic, Prognostic, and Social Implications.

Pediatric renal diseases vary widely and are linked to high morbidity and mortality; hence, early diagnosis is vital. Presently, genetic testing is being incorporated into the standard of care for children and their families with kidney disease, primarily as a diagnostic tool. In the present review, we aim to collect all potential evidence from relevant studies that reported the role of genetic testing in pediatric renal disease diagnostic, prognostic, and social implications. We have conducted both electronic and manual searches within PubMed, the Cochrane Library, Web of Science, and Scopus to find relevant studies. Studies from the years 2013-2023 were included. Case reports with limited sample sizes and no descriptive statistics, along with review papers and meta-analyses, were excluded from this review. Quality assessment for all included studies was performed. The pooled diagnostic yields were calculated using the common effect and random effect models utilizing the R program (R Foundation for Statistical Computing, Vienna, Austria). The pooled result for the diagnostic yield as per the common effect model is a pooled proportion of 0.42 (42%) 95% confidence interval (CI): [0.39,0.44], while with the random effects model the pooled proportion is 0.43 (43%) 95% CI: [0.31,0.57]. The diagnostic yield for the included studies ranged from 78.10% to 16.8%. The spectrum of kidney diseases included nephrolithiasis/nephrocalcinosis, glomerular diseases, cystic kidney disease, ciliopathies, tubulopathies, chronic kidney disease, and congenital anomalies of the kidneys and urinary tracts (CAKUT), while hematuria and proteinuria were reported by two studies and autosomal recessive and autosomal dominant idiopathic kidney disease was reported by only one study. Genetic testing validates clinical diagnosis and aids in tailoring management strategies; hence, a more precise treatment plan is developed and unnecessary investigations are avoided, which is crucial in the case of children during routine nephrology clinic visits. Genetic counselling is of the utmost importance, so all ethical and social concerns related to genetic testing are addressed in addition to patient satisfaction.

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines

Exome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral palsy. To evaluate if the diagnostic yield of exome or genome sequencing in cerebral palsy is similar to that of other neurodevelopmental disorders. The study team searched PubMed for studies published between 2013 and 2022 using cerebral palsy and genetic testing terms. Data were analyzed during March 2022. Studies performing exome or genome sequencing in at least 10 participants with cerebral palsy were included. Studies with fewer than 10 individuals and studies reporting variants detected by other genetic tests were excluded. Consensus review was performed. The initial search identified 148 studies, of which 13 met inclusion criteria. Data were extracted by 2 investigators and pooled using a random-effects meta-analysis. Incidence rates with corresponding 95% CIs and prediction intervals were calculated. Publication bias was evaluated by the Egger test. Variability between included studies was assessed via heterogeneity tests using the I2 statistic. The primary outcome was the pooled diagnostic yield (rate of pathogenic/likely pathogenic variants) across studies. Subgroup analyses were performed based on population age and on the use of exclusion criteria for patient selection. Thirteen studies were included consisting of 2612 individuals with cerebral palsy. The overall diagnostic yield was 31.1% (95% CI, 24.2%-38.6%; I2 = 91%). The yield was higher in pediatric populations (34.8%; 95% CI, 28.3%-41.5%) than adult populations (26.9%; 95% CI, 1.2%-68.8%) and higher among studies that used exclusion criteria for patient selection (42.1%; 95% CI, 36.0%-48.2%) than those that did not (20.7%; 95% CI, 12.3%-30.5%). In this systematic review and meta-analysis, the genetic diagnostic yield in cerebral palsy was similar to that of other neurodevelopmental disorders for which exome sequencing is recommended as standard of care. Data from this meta-analysis provide evidence to support the inclusion of cerebral palsy in the current recommendation of exome sequencing in the diagnostic evaluation of individuals with neurodevelopmental disorders.

Guided Bronchoscopy for the Evaluation of Pulmonary Lesions: An Updated Meta-analysis

Guided bronchoscopy is increasingly used to diagnose peripheral pulmonary lesions (PPLs). A meta-analysis published in 2012 demonstrated a pooled diagnostic yield of 70%; however, recent publications have documented yields as low as 40%and as high as 90%. Has the diagnostic yield of guided bronchoscopy in patients with PPLs improved over the past decade? A comprehensive search was performed of studies evaluating the diagnostic yield of differing bronchoscopic technologies used to reach PPLs. Study quality was assessed using the Quality assessment of diagnostic accuracy of studies (QUADAS-2) assessment tool. Number of lesions, type of technology used, overall diagnostic yield, and yield by size were extracted. Adverse events were recorded. Meta-analytic techniques were used to summarize findings across all studies. A total of 16,389 lesions from 126 studies were included. There was no significant difference in diagnostic yield prior to 2012 (39 studies; 3,052 lesions; yield 70.5%) vsafter 2012 (87 studies; 13,535 lesions; yield 69.2%) (P > .05). Additionally, there was no significant difference in yield when comparing different technologies. Studies with low risk of overall bias had a lower diagnostic yield than those with high risk of bias (66%vs71%, respectively; P= .018). Lesion size > 2cm, presence of bronchus sign, and reports with a high prevalence of malignancy in the study population were associated with significantly higher diagnostic yield. Significant (P< .0001) between-study heterogeneity was also noted. Despite the reported advances in bronchoscopic technology to diagnose PPLs, the diagnostic yield of guided bronchoscopy has not improved.

Meta-analysis and systematic review of mediastinal cryobiopsy versus endobronchial ultrasound-transbronchial needle aspiration (EBUS-TBNA) in the diagnosis of intrathoracic adenopathy.

Endobronchial ultrasound (EBUS)-guided mediastinal/hilar cryobiopsy (MedCryoBx) is a relatively new modality, being combined with EBUS-transbronchial needle aspiration (TBNA) to improve yield in the diagnosis of intrathoracic adenopathy. This meta-analysis aims to investigate the diagnostic yield of MedCryoBx versus EBUS-TBNA for intrathoracic adenopathy. We conducted a systematic search using Google Scholar, Embase, and PubMed/MEDLINE for studies about a diagnosis of intrathoracic adenopathy using MedCryoBx and EBUS-TBNA. Two authors separately reviewed studies for inherent bias using the Quality Assessment Data Abstraction and Synthesis-2 (QUADAS-2) tool. Inverse Variance weighting for random effects methodology was used for meta-analysis. Pooled diagnostic yields overall and for subgroups were estimated. Complications of MedCryoBx were reviewed. Ten studies with 844 patients undergoing either biopsy procedure were in the final analysis. A total of 554 patients underwent MedCryoBx and 704 patients EBUS-TBNA. Meta-analysis showed a pooled diagnostic yield of 91% (504 of 554) for MedCryoBx and 81% (567 of 704) for EBUS-TBNA, with odds ratio (OR) of 2.5 [95% confidence interval (CI): 1.6 to 3.91; P<0.001], with I2 of 20%. Subgroup analysis for benign conditions showed increased diagnostic yield with OR of 7.95 (91% MedCryoBx versus 58% EBUS-TBNA, P<0.001) with an I2 of 25%. Subgroup analysis for lymphoma showed a statistically significant increase in pooled diagnostic yield with OR of 11.48 (87% MedCryoBx versus 29% EBUS-TBNA, P=0.001). Mild bleeding (36.5%) without any intervention was the most common complication. Bleeding requiring intervention (0.7%) was noted in patients. Pneumothorax (0.4%) and pneumomediastinum (0.4%) were less common in this analysis. MedCryoBx is a very promising tool for the diagnosis of intrathoracic adenopathy. It has improved diagnostic yield over EBUS-TBNA in benign and possibly lymphoproliferative diseases, but less so in lung cancer. The complication rates with MedCryoBx are comparable to EBUS-TBNA.

Diagnostic performance of cryobiopsy guided by radial-probe EBUS with a guide sheath for peripheral pulmonary lesions.

Transbronchial lung cryobiopsy (TBCB) has developed rapidly and has become one of the research hotspots of lung biopsy technology. The present study sought to evaluate the efficacy of TBCB guided by radial-probe EBUS (RP-EBUS) and a guide sheath (GS) without fluoroscopy for peripheral pulmonary lesions. In this retrospective study, McNemar's test was used in order to compare TBCB and transbronchial forceps biopsy (TBFB) in terms of diagnostic performance. A multivariate logistic regression model was designed to explore the association between predictive variables and the diagnostic yield of TBCB. A total of 168 patients underwent GS-guided RP-EBUS. Of those, 157 had lesions that were visible and 11 had lesions that were not. Of those 157 patients, 24 were excluded because of missing data or an unclear final diagnosis. Therefore, 133 patients underwent RP-EBUS-GS-guided TBFB and TBCB. The pooled diagnostic yield of RP-EBUS-GS-guided TBCB without fluoroscopy was 71.5% (103/144). In 133 patients, the diagnostic yield of TBCB was significantly higher than that of TBFB (77.4% vs. 59.4%; p < 0.05). Multivariate analysis indicated that lesion size and site were independently associated with the diagnostic yield of TBCB (OR = 2.8, p = 0.03 and OR = 4.1, p = 0.01, respectively), although cryoprobe size was not. There was no significant difference between the 1.1-mm cryoprobe and the 1.9-mm cryoprobe in terms of diagnostic performance (78.4% vs. 76.8%; p > 0.05). GS-guided RP-EBUS is regarded as a practical option for guiding cryobiopsy, although it may not be able to replace fluoroscopy. Peripheral pulmonary lesions not located in the upper lobes or larger than 30 mm are significantly associated with a higher diagnostic yield of cryobiopsy.

Ultrathin Bronchoscopy for the Diagnosis of Peripheral Pulmonary Lesions: A Meta-Analysis

Background: Ultrathin bronchoscopy (external diameter, ≤3.5 mm) is useful for the diagnosis of peripheral pulmonary lesions because of its good accessibility. Objectives: We performed a meta-analysis to investigate the diagnostic yield of ultrathin bronchoscopy for peripheral pulmonary lesions. Methods: We performed a systematic search of MEDLINE and EMBASE (from inception to May 2021), and meta-analysis was performed using R software. The diagnostic yield was evaluated by dividing the number of successful diagnoses by the total number of lesions, and subgroup analysis was performed to identify related factors. Results: Nineteen studies with a total of 1,977 peripheral pulmonary lesions were included. The pooled diagnostic yield of ultrathin bronchoscopy was 0.65 (95% confidence interval, 0.60–0.70). Significant heterogeneity was observed among studies (χ², 87.75; p < 0.01; I², 79.5%). In a subgroup analysis, ultrathin bronchoscopy with 1.2 mm channel size showed a diagnostic yield of 0.61 (95% confidence interval, 0.53–0.68), whereas ultrathin bronchoscopy with 1.7 mm channel size showed 0.70 (95% confidence interval, 0.66–0.74) (χ², 5.35; p = 0.02). In addition, there was a significant difference in diagnostic yield based on lesion size, histologic diagnosis (malignant vs. benign), bronchus sign, and lesion location from the hilum, whereas no significant difference was found based on lobar location. The overall complication rate of ultrathin bronchoscopy was 2.7% (pneumothorax, 1.1%). Conclusions: Ultrathin bronchoscopy is an excellent tool for peripheral pulmonary lesion diagnosis with a low complication rate. The diagnostic yield of ultrathin bronchoscopy was significantly higher with larger channel size, which might be attributed to the availability of radial endobronchial ultrasound.

Diagnostic yield and safety of transbronchial lung cryobiopsy and surgical lung biopsy in interstitial lung diseases: a systematic review and meta-analysis.

Transbronchial lung cryobiopsy (TBLC) is increasingly being used as an alternative to video-assisted thoracoscopic surgery (VATS) biopsy to establish the histopathologic pattern in interstitial lung disease (ILD). A systematic literature search of the PubMed and Embase databases, from October 2010 to October 2020, was conducted to identify studies that reported on diagnostic yield or safety of VATS or TBLC in the diagnosis of ILD. 43 studies were included. 23 evaluated the diagnostic yield of TBLC after multidisciplinary discussion, with a pooled diagnostic yield of 76.8% (95% confidence interval (CI) 70.6-82.1), rising to 80.7% in centres that performed ≥70 TBLC. 10 studies assessed the use of VATS and the pooled diagnostic yield was 93.5% (95% CI 88.3-96.5). In TBLC, pooled incidences of complications were 9.9% (95% CI 6.8-14.3) for significant bleeding (6.9% for centres with ≥70 TBLC), 5.6% (95% CI 3.8-8.2) for pneumothorax treated with a chest tube and 1.4% (95% CI 0.9-2.2) for acute exacerbation of ILD after TBLC. The mortality rates were 0.6% and 1.7% for TBLC and VATS, respectively. TBLC has a fairly good diagnostic yield, an acceptable safety profile and a lower mortality rate than VATS. The best results are obtained from more experienced centres.

META ANALYSIS OF DIAGNOSTIC YIELD AND COMPLICATIONS WITH ROBOTIC-ASSISTED NAVIGATION BRONCHOSCOPY

META ANALYSIS OF DIAGNOSTIC YIELD AND COMPLICATIONS WITH ROBOTIC-ASSISTED NAVIGATION BRONCHOSCOPY