Diagnostic yield of exome sequencing in fetuses with an isolated increased nuchal translucency: systematic review and meta‐analysis

2021 ◽  
Author(s):  
M. Pauta ◽  
R. Martinez‐Portilla ◽  
A. Borrell
Keyword(s):  
Systematic Review ◽  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Meta Analysis ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis

2015 ◽  
Vol 46 (6) ◽  
pp. 650-658 ◽  
Author(s):  
M. Grande ◽  
F. A. R. Jansen ◽  
Y. J. Blumenfeld ◽  
A. Fisher ◽  
A. O. Odibo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Genomic Microarray ◽  
Increased Nuchal Translucency

scholarly journals Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability A systematic review and meta-analysis

2020 ◽  
Author(s):  
Arthur Stefanski ◽  
Yamile Calle-López ◽  
Costin Leu ◽  
Eduardo Pérez-Palma ◽  
Elia Pestana-Knight ◽  
...  
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Exome Sequencing ◽  
Neurodevelopmental Disorders ◽  
Diagnostic Yield ◽  
Meta Analysis ◽  
Autism Spectrum ◽  
Clinical Genetic ◽  
Clinical Sequencing ◽  
Sequencing Studies

Abstract Importance: Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Several reviews have been published regarding clinical genetic testing in various NDD subtypes. However, there is no systematic review and meta-analysis – in accordance with the PRISMA guidelines – which compares the genetic testing yield across neurodevelopmental disorder subtypes and sequencing technology. Objective: To perform a meta-analysis and systematic review of the success rate (diagnostic yield) of clinical sequencing through NGS across NDDs. Data Sources: Systematic review of the literature from PubMed until July 2019 for clinical sequencing studies that utilized NGS in individuals with epilepsy, autism spectrum disorder (ASD), or intellectual disability (ID). Study Selection: Data were taken from clinical sequencing studies that screened more than five genes and performed variant classification in at least 20 individuals with epilepsy, ASD, or ID. 5.6% of identified studies met the selection criteria. Data Extraction and Synthesis: Data were extracted, reviewed, and categorized according to PRISMA guidelines. Clinical evaluation and grouping were performed by two investigators following the ILAE guidelines. Pooled rates of the diagnostic yield and 95% confidence intervals were estimated with a random-effects model and adjusted for publication bias by the Duval and Tweedie procedure. Main Outcomes and Measures: Diagnostic yield, defined as the proportion of individuals in a cohort who received a diagnosis based on a positive genetic test with variants identified as pathogenic or likely pathogenic. Results: We identified 79 studies (epilepsy, n = 54; ASD, n = 13; ID, n = 17) across 29,301 individuals. Targeted gene panel sequencing was used in 53 cohorts and exome sequencing (ES) in 27 cohorts. The diagnostic yield was 16.7% for epilepsy, 20.2% for ASD, 24.8% for ID, and 16.6% overall. The diagnostic yield was significantly higher for exome sequencing compared to panels (33.9% vs. 16.2%, P = 1.38×10−5). We observed that the number of clinical sequencing studies increased annually, particularly studies from Asia (0-2 per year between 2012 and 2017, up to 10 in 2018). No studies from Africa, India, or Latin America were identified. We also found that recent studies are more likely to report variants of uncertain significance and few studies reported benign variants. Conclusions and Relevance: This meta-analysis and systematic review provides a comprehensive overview of clinical sequencing studies of NDDs, which will help guide policymaking and steer decision-making in patient management. Key Points Question What is the diagnostic yield of next-generation sequencing (NGS) in neurodevelopmental disorders and their subtypes? Findings In this systematic review and meta-analysis of 79 studies that include 29,301 individuals, the overall diagnostic yield was 16.6% (16.7% for epilepsy, 20.2% for ASD, and 24.8% for ID). Across all studies, downstream analyses showed a significant difference in yield between exome sequencing (33.9%) and targeted gene panels (16.2%). Meaning Around one in five NDD patients will receive a diagnosis using NGS, especially when investigating the whole exome.

scholarly journals Fetal exome sequencing for isolated increased nuchal translucency: Should we be doing it?

2021 ◽  
Author(s):  
Rhiannon Mellis ◽  
Ruth Y Eberhardt ◽  
Susan J Hamilton ◽  
Dominic J McMullan ◽  
Mark D Kilby ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

scholarly journals Diagnostic Yield and Safety of Electromagnetic Navigation Bronchoscopy for Lung Nodules: A Systematic Review and Meta-Analysis

Respiration ◽  
2014 ◽  
Vol 87 (2) ◽  
pp. 165-176 ◽  
Author(s):  
Gregoire Gex ◽  
Jacques A. Pralong ◽  
Christophe Combescure ◽  
Luis Seijo ◽  
Thierry Rochat ◽  
...  
Keyword(s):  
Systematic Review ◽  
Diagnostic Yield ◽  
Meta Analysis ◽  
Lung Nodules ◽  
Electromagnetic Navigation

Nuchal translucency measurement, freeβ-hCG and PAPP-A concentrations in IVF/ICSI pregnancies: systematic review and meta-analysis

2017 ◽  
Vol 37 (6) ◽  
pp. 540-555 ◽  
Author(s):  
Paolo Cavoretto ◽  
Veronica Giorgione ◽  
Sonia Cipriani ◽  
Paola Viganò ◽  
Massimo Candiani ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Nuchal Translucency ◽  
Nuchal Translucency Measurement

scholarly journals Diagnostic yield of EUS-guided through-the-needle microforceps biopsy versus EUS-FNA of pancreatic cystic lesions: a systematic review and meta-analysis

2020 ◽  
Vol 08 (05) ◽  
pp. E656-E667 ◽  
Author(s):  
Donevan R. Westerveld ◽  
Sandeep A. Ponniah ◽  
Peter V. Draganov ◽  
Dennis Yang
Keyword(s):  
Systematic Review ◽  
Sensitivity And Specificity ◽  
Diagnostic Yield ◽  
Meta Analysis ◽  
Concordance Rate ◽  
Surgical Pathology ◽  
Adverse Event Rate ◽  
Secondary Outcome ◽  
Pancreatic Cysts ◽  
Cyst Type

Abstract Background and study aims Accurate diagnosis and risk stratification of pancreatic cysts (PCs) is challenging. The aim of this study was to perform a systematic review and meta-analysis to assess the feasibility, safety, and diagnostic yield of endoscopic ultrasound-guided through-the-needle biopsy (TTNB) versus fine-needle aspiration (FNA) in PCs. Methods Comprehensive search of databases (PubMed, EMBASE, Cochrane, Web of Science) for relevant studies on TTNB of PCs (from inception to June 2019). The primary outcome was to compare the pooled diagnostic yield and concordance rate with surgical pathology of TTNB histology and FNA cytology of PCs. The secondary outcome was to estimate the safety profile of TTNB. Results: Eight studies (426 patients) were included. The diagnostic yield was significantly higher with TTNB over FNA for a specific cyst type (OR: 9.4; 95 % CI: [5.7–15.4]; I2 = 48) or a mucinous cyst (MC) (OR: 3.9; 95 % CI: [2.0–7.4], I2 = 72 %). The concordance rate with surgical pathology was significantly higher with TTNB over FNA for a specific cyst type (OR: 13.5; 95 % CI: [3.5–52.3]; I2 = 48), for a MC (OR: 8.9; 95 % [CI: 1.9–40.8]; I2 = 29), and for MC histologic severity (OR: 10.4; 95 % CI: [2.9–36.9]; I2 = 0). The pooled sensitivity and specificity of TTNB for MCs were 90.1 % (95 % CI: [78.4–97.6]; I2 = 36.5 %) and 94 % (95 % CI: [81.5–99.7]; I2 = 0), respectively. The pooled adverse event rate was 7.0 % (95 % CI: [2.3–14.1]; I2 = 82.9). Conclusions TTNB is safe, has a high sensitivity and specificity for MCs and may be superior to FNA cytology in risk-stratifying MCs and providing a specific cyst diagnosis.

scholarly journals Carbon dioxide versus room air insufflation during balloon-assisted enteroscopy: A systematic review with meta-analysis

2017 ◽  
Vol 05 (01) ◽  
pp. E67-E75 ◽  
Author(s):  
Ashok Shiani ◽  
Seth Lipka ◽  
Andrew Lai ◽  
Andrea Rodriguez ◽  
Christian Andrade ◽  
...  
Keyword(s):  
Carbon Dioxide ◽  
Systematic Review ◽  
Adverse Events ◽  
Diagnostic Yield ◽  
Meta Analysis ◽  
Controlled Trials ◽  
Cochrane Central Register ◽  
Insertion Depth ◽  
Co2 Insufflation ◽  
Air Insufflation

Abstract Background and study aims Carbon dioxide (CO2) insufflation has been suggested to be an ideal alternative to room air insufflation to reduce trapped air within the bowel lumen after balloon assisted enteroscopy (BAE). We performed a systematic review and meta-analysis to assess the safety and efficacy of utilizing CO2 insufflation as compared to room air during BAE. Patients and methods The primary outcome is mean change in visual analog scale (VAS; 10 cm) at 1, 3, and 6 hours to assess pain. Secondary outcomes include insertion depth (anterograde or retrograde), adverse events, total enteroscopy rate, diagnostic yield, mean anesthetic dosage, and PaCO2 at procedure completion. We searched MEDLINE and the Cochrane Central Register of Controlled Trials (CENTRAL) from inception until May 2015. Multiple independent extractions were performed, the process was executed as per the standards of the Cochrane collaboration. Results Four randomized controlled trials (RCTs) were included in the meta-analysis. VAS at 6 hours favored CO2 over room air (MD 0.13; 95 % CI 0.01, 0.25; p = 0.03). Anterograde insertion depth (cm) was improved in the CO2 group (MD, 58.2; 95 % CI 17.17, 99.23; p = 0.005), with an improvement in total enteroscopy rate in the CO2 group (RR 1.91; 95 % CI 1.20, 3.06; p = 0.007). Mean dose of propofol (mg) favored CO2 compared to air (MD, – 70.53; 95 % CI – 115.07, – 25.98; P = 0.002). There were no differences in adverse events in either group. Conclusions Despite the ability of CO2 to improve insertion depth and decrease amount of anesthesia required, further randomized control trials are needed to determine the agent of choice for insufflation in balloon assisted enteroscopy.

Sign in / Sign up

Export Citation Format

Share Document