scholarly journals Analyzing false‐negative results detected in low‐risk non‐invasive prenatal screening cases

2020 ◽  
Vol 8 (4) ◽  
Author(s):  
Ying Lin ◽  
Dong Liang ◽  
Yan Wang ◽  
Hang Li ◽  
An Liu ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
False Negative ◽  
Low Risk ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results

scholarly journals One-Year Update on Salivary Diagnostic of COVID-19

2021 ◽  
Vol 9 ◽  
Author(s):  
Douglas Carvalho Caixeta ◽  
Stephanie Wutke Oliveira ◽  
Leia Cardoso-Sousa ◽  
Thulio Marquez Cunha ◽  
Luiz Ricardo Goulart ◽  
...  
Keyword(s):  
Healthcare Professionals ◽  
Close Contact ◽  
False Negative ◽  
Nasopharyngeal Swab ◽  
Frontline Workers ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results ◽  
One Year ◽  
Frontline Healthcare Workers

Background: Coronavirus disease 2019 (COVID-19) is a global health problem, which is challenging healthcare worldwide. In this critical review, we discussed the advantages and limitations in the implementation of salivary diagnostic platforms of COVID-19. The diagnostic test of COVID-19 by invasive nasopharyngeal collection is uncomfortable for patients and requires specialized training of healthcare professionals in order to obtain an appropriate collection of samples. Additionally, these professionals are in close contact with infected patients or suspected cases of COVID-19, leading to an increased contamination risk for frontline healthcare workers. Although there is a colossal demand for novel diagnostic platforms with non-invasive and self-collection samples of COVID-19, the implementation of the salivary platforms has not been implemented for extensive scale testing. Up to date, several cross-section and clinical trial studies published in the last 12 months support the potential of detecting SARS-CoV-2 RNA in saliva as a biomarker for COVID-19, providing a self-collection, non-invasive, safe, and comfortable procedure. Therefore, the salivary diagnosis is suitable to protect healthcare professionals and other frontline workers and may encourage patients to get tested due to its advantages over the current invasive methods. The detection of SARS-CoV-2 in saliva was substantial also in patients with a negative nasopharyngeal swab, indicating the presence of false negative results. Furthermore, we expect that salivary diagnostic devices for COVID-19 will continue to be used with austerity without excluding traditional gold standard specimens to detect SARS-CoV-2.

scholarly journals Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study

2020 ◽  
Vol 102 ◽  
Author(s):  
Alvaro Mesoraca ◽  
Katia Margiotti ◽  
Claudio Dello Russo ◽  
Anthony Cesta ◽  
Antonella Cima ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Clinical Performance ◽  
False Negative ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Trisomy 13 ◽  
Sequencing Platform ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results

Abstract Introduction Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. In this study, the practical clinical performance of our foetal DNA testing was evaluated for analysing all chromosome aberrations among 7113 pregnancies in Italy. Methods This study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing platform obtained from Altamedica Medical Centre in Rome, Italy. Results In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomies 13, 18 and 21. Out of the 7113 samples analysed, 74 cases (1%) were positive by NIPT testing; foetal karyotyping and follow-up results validated 2 trisomy 13 cases, 5 trisomy 18 cases, 58 trisomy 21 cases and 10 sex chromosome aneuploidy cases. There were no false-negative results. Conclusion In our hands, NIPT had high sensitivity and specificity for common chromosomal aneuploidies such as trisomies 13, 18 and 21.

Contact Thermography as a Screening Test for Deep Venous Thrombosis following Major Hip Surgery

1988 ◽  
Vol 29 (6) ◽  
pp. 649-652 ◽  
Author(s):  
L. Kjær ◽  
S. Winter Christensen ◽  
Aa. Vestergaard ◽  
A. Bjerg-Nielsen ◽  
P. Wille-Jørgensen
Keyword(s):  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
No Value ◽  
Screening Test ◽  
False Negative ◽  
Lower Limbs ◽  
Hip Surgery ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results

Contact thermography is a non-invasive, easily handled, and inexpensive investigation for the diagnosis of deep venous thrombosis (DVT) in the lower limbs. In this study 56 patients with total hip replacement were screened for DVT by contact thermography, using bilateral ascending phlebography as reference procedure. Examinations were performed on the seventh postoperative day. All thermograms were evaluated blindly and independently at the end of the study. Phlebography revealed unilateral DVT in six patients. Only two had corresponding findings at thermography, giving four false negative results. Moreover, 14 false positive thermograms were found. Based on the number of legs investigated, the nosographic sensitivity and specificity thus were 33 and 87 per cent, respectively. It is concluded that contact thermography is of no value as a screening test for DVT following major hip surgery.

scholarly journals Heterogeneity in Colorectal Cancer: A Challenge for Personalized Medicine?

2018 ◽  
Vol 19 (12) ◽  
pp. 3733 ◽  
Author(s):  
Chiara Molinari ◽  
Giorgia Marisi ◽  
Alessandro Passardi ◽  
Laura Matteucci ◽  
Giulia De Maio ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Residual Disease ◽  
False Negative ◽  
Response To Therapy ◽  
Molecular Heterogeneity ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results ◽  
Essential Components

High inter-patient variability and high spatial heterogeneity are features of colorectal cancer (CRC). This may influence the molecular characterization of tumor tissue, now mandatory for patients with metastatic CRC who are candidates for treatment with an anti-EGFR mAb, as false-negative results can occur, leading to non optimal therapy. Moreover, temporal molecular heterogeneity during treatment is known to influence the response to therapy and prognosis. We present a literature overview of advances made in characterizing molecular heterogeneity in CRC, underlining that the analysis of liquid biopsy could represent an efficient non-invasive tool to overcome the problem. We believe that understanding CRC heterogeneity is fundamental for a more accurate diagnosis, for selecting the best targets to ensure prolonged antitumor response, and for monitoring minimal residual disease and the onset of resistance to therapy, all essential components of successful personalized treatment.

scholarly journals Clinical evaluation of non-invasive prenatal screening in 32,394 pregnancies from Changzhi Maternal and Child Health Care Hospital of Shanxi China

2021 ◽  
Author(s):  
WenXia Song ◽  
XiaoZe Li ◽  
LiHong Wang ◽  
ZeRong Yao ◽  
FangYing Ruan ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Test Performance ◽  
Prenatal Screening ◽  
False Negative ◽  
Trisomy 13 ◽  
Care Hospital ◽  
Non Invasive ◽  
Negative Results ◽  
Significant Difference ◽  
Positive Results

Non-invasive prenatal screening (NIPS)was performed in 32,394 pregnancies, out of which results were available in 32,361 (99.9%) of them.Among the 32,361confirmed samples, 164 cases had positive results and 32197 cases had negative results. Of these positive cases, 116 cases were trisomy 21, 34 cases were trisomy 18 and 14 cases were trisomy 13. No false negative results were found in this cohort. The overall sensitivity and specificity were 100% and 99.91%, respectively. There was no significant difference in test performance between the 7,316 high-risk and 25,045 low-risk pregnancies，(sensitivity, 100% vs 100% (P >0.05); specificity, 99.96% vs 99.95% (P > 0.05)). Factors contributing to false-positive results included fetal CNVs, fetal mosaicism and typically producing Z scores between 3 and 4. Moreover, we analyze NIPT whole-genome sequencing to investigate the Single Nucleotide Polymorphisms (SNPs) associations with drug response or risk of disease. As compare to the 1000g East Asian genome data, the results reveal a significant difference in 7,285,418 SNPs variants of Shanxi pregnant women including 19，293 clinvar recorded variants and 7,266,125 non- clinvar recorded. Our findings showed that NIPS was an effective assay that may be applied as routine screening for fetal trisomies in the prenatal setting. In addition, this study also provides an accurate assessment of significant differencein 7,285,418 SNPs variants in Shanxi pregnant women that were previously unavailable to clinicians in Shanxi population.

BTA-TRAK Combined with Urinary Cytology is a Reliable Urinary Indicator of Recurrent Transitional Cell Carcinoma (TCC) of the Bladder

2000 ◽  
Vol 15 (3) ◽  
pp. 219-225 ◽  
Author(s):  
S. Mattioli ◽  
E. Seregni ◽  
L. Caperna ◽  
C. Botti ◽  
G. Savelli ◽  
...  
Keyword(s):  
Transitional Cell Carcinoma ◽  
Cell Carcinoma ◽  
Transitional Cell ◽  
False Negative ◽  
Urinary Cytology ◽  
Additional Information ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results ◽  
History Of

This study evaluated the diagnostic accuracy of BTA-TRAK in combination with urinary cytology (UC) in the follow-up of patients with a history of transitional cell carcinoma (TCC) of the bladder. The overall sensitivity of BTA-TRAK, UC and the two tests combined for the detection of recurrences was 82.7% (48/58), 84.2% (48/57) and 91.2% (52/57), respectively. BTA and UC showed comparable sensitivity for superficial recurrences (76.7% (33/43) and 78.5% (33/42), respectively) and for invasive recurrences (100% (15/15)); when the two tests were used in combination, the sensitivity for superficial lesions increased to 88% (37/42). BTA-TRAK was more sensitive than UC for G1 recurrences (81.2% (13/16) vs. 68.7% (11/16)), and when the two tests were combined the sensitivity increased to 87.5% (14/16). The sensitivity of the combination was 100% (15/15) for G3 lesions. The differences in urinary BTA-TRAK levels between patients with recurrences and those without evidence of disease were statistically significant (Wilcoxon's test, p<0.05); among patients with recurrences BTA levels were significantly higher in the invasive and poorly differentiated subtypes. In the series of patients studied by us, BTA-TRAK combined with UC was shown to be a non-invasive, accurate test to predict TCC recurrences. Periodic measurement of BTA-TRAK combined with urinary cytology seems to provide additional information for the monitoring of patients treated for TCC; however, due to the presence of false positive and false negative results, this test cannot replace cystoscopy. In a selected group of patients it could, if combined with cytology and ultrasonography and if correctly used and interpreted, orient the timing and indication for cystoscopy.

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