scholarly journals Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
R. Hochstenbach ◽  
G. C. M. L. Page-Christiaens ◽  
A. C. C. van Oppen ◽  
K. D. Lichtenbelt ◽  
J. J. T. van Harssel ◽  
...  
Keyword(s):  
False Negative ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Trisomy 13 ◽  
Maternal Weight ◽  
Noninvasive Prenatal Testing ◽  
Root Cause ◽  
Negative Results ◽  
False Negative Results ◽  
Negative Case

Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. False negative cases have rarely been reported. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed directly to the clinician. Both cases came to our attention because a fetal anatomy scan at 20 weeks of gestation revealed multiple anomalies. Karyotyping of cultured amniocytes showed nonmosaic trisomies 13 and 18, respectively. Cytogenetic investigation of cytotrophoblast cells from multiple placental biopsies showed a low proportion of nontrisomic cells in each case, but this was considered too small for explaining the false negative NIPT result. The discordant results also could not be explained by early gestational age, elevated maternal weight, a vanishing twin, or suboptimal storage or transport of samples. The root cause of the discrepancies could, therefore, not be identified. The couples involved experienced difficulties in accepting the unexpected and late-adverse outcome of their pregnancy. We recommend that all parties involved in caring for couples who choose NIPT should collaborate to clarify false negative results in order to unravel possible biological causes and to improve the process of patient care from initial counseling to communication of the result.

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.

scholarly journals Noninvasive prenatal testing: the aspects of its introduction into clinical practice

2019 ◽  
pp. 5-14
Author(s):  
D. O. Korostin ◽  
D. A. Plakhina ◽  
V. A. Belova
Keyword(s):  
Clinical Practice ◽  
Rapid Development ◽  
False Negative ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Negative Results ◽  
Free Dna ◽  
False Negative Results ◽  
Fetal Aneuploidies ◽  
Expert Community

The last couple of years have witnessed the rapid development of prenatal molecular-based screening for fetal aneuploidies that utilizes the analysis of cell-free DNA circulating in the bloodstream of a pregnant woman. The present review looks at the potential and limitations of such testing and the possible causes of false-positive and false-negative results. The review also describes the underlying principles of data acquisition and analysis the testing involves. In addition, we talk about the opinions held by the expert community and some aspects of legislation on the use of noninvasive prenatal testing (NIPT) in clinical practice in the countries where NIPT is much more widespread than in Russia.

scholarly journals Visualization of Lesions of Metaphyses and Epiphyses of Bones in Newborns and Young Children

2021 ◽  
pp. 82-90
Author(s):  
N. A. Sholokhova
Keyword(s):  
Young Children ◽  
False Negative ◽  
Age Groups ◽  
High Sensitivity ◽  
Negative Results ◽  
False Negative Results ◽  
Inflammatory Processes ◽  
Group 5 ◽  
Magnetic Resonance Imaging Mri ◽  
Diagnostic Capabilities

The aim of this study was to determine the diagnostic capabilities of various methods of radiological diagnostics for lesions of the metaphyses and epiphyses of bones in newborns and young children.The study involved 108 children in the age group 5 days – 12 months with pathological changes in the pineal gland and bone metaphysis. The possibilities and advantages of standard radiography (СR), ultrasound examination (US) and magnetic resonance imaging (MRI) in the early and differential diagnosis of the osteomyelitis process and epiphyseolysis have been determined. High sensitivity (98 %), specificity (99 %) and accuracy (98 %) for ultrasound and sensitivity (94 %), specificity (89 %) and accuracy (95 %) of MRI in diagnosing osteomyelitis in patients of this age groups. At the same time, the possibilities of standard radiography at the stages of early diagnosis of inflammatory processes in the distal parts of the bones were limited due to a number of factors. The use of diagnostic algorithms greatly facilitates the work of a radiologist and reduces the number of false negative results during the initial treatment of patients.

CLINICAL APPLICATION OF COVID-19 REPORTING AND DATA SYSTEM IN COMPUTED TOMOGRAPHY OF BILATERAL PNEUMONIA DIAGNOSTIC

2021 ◽  
Vol 31 (4) ◽  
pp. 40-45
Author(s):  
Ugnė Kulnickaitė ◽  
Laura Dobrovaitė ◽  
Kamilė Grigaitė ◽  
Edvardas Jukna
Keyword(s):  
Computed Tomography ◽  
False Negative ◽  
High Sensitivity ◽  
Chest Ct ◽  
Data System ◽  
Negative Results ◽  
Radiological Society ◽  
Evaluation Scheme ◽  
False Negative Results ◽  
Standardized Reporting

Background: the 2019 coronavirus disease pandemic (COVID-19) has spread at an astonishing speed across the world, causing major morbidity and mortality. Computed tomography (CT) examination plays an important role in crisis areas in the diagnosis of COVID-19. COVID-19 Reporting and Data System (CO-RADS) has a five-point scale of suspicion for COVID-19 pneumonia in chest CT picture which standardizes the evaluation scheme and simplifies reporting. Aim: to summarise and present the role of COVID-19 Reporting and Data System in computed tomography of bilateral pneumonia diagnostic. Materials and methods: recently published studies were reviewed to evaluate COVID-19 Reporting and Data System scale as effective tool to detect COVID-19 pneumonia on chest CT scans. Databases from the subscription list of Lithuanian University of Health Sciences were selected: Medline (PubMed), SpringerLink and ScienceDirect. Results: chest CT features, as bilateral involvement, subpleural or peripherally distributed GGO, consolidation, reticulation, crazy paving pattern, air bronchogram signs, intralobular septal thickening, pulmonary vascular enlargement, are considered to be characteristic manifestations of COVID-19 infection. Studies show that Dutch Radiological Society presented CO-RADS scale sensitivity and specificity may vary from 61-88% and 66,4-98%, respectively. Conclusion: chest CT scan has a high sensitivity for COVID-19 diagnosis and could reduce false negative results obtained from RT-PCR tests. Furthermore, a standardized reporting system could increase clarification, minimize reporting variability and help radiologists recognize the results they observe, especially, for less experienced specialists.

Pearls and Pitfalls of Interpretation in CT Colonography

2020 ◽  
Vol 71 (2) ◽  
pp. 140-148
Author(s):  
Michael Schonberger ◽  
Philippe Lefere ◽  
Abraham H. Dachman
Keyword(s):  
Computed Tomography ◽  
Sensitivity And Specificity ◽  
False Positive ◽  
Ct Colonography ◽  
False Negative ◽  
High Sensitivity ◽  
Negative Results ◽  
False Negative Results ◽  
The Common

The accuracy of computed tomography (CT) colonography (CTC) requires that the radiologist be well trained in the recognition of pitfalls of interpretation. In order to achieve a high sensitivity and specificity, the interpreting radiologist must be well versed in the causes of both false-positive and false-negative results. In this article, we review the common and uncommon pitfalls of interpretation in CTC.

scholarly journals Prozone-like phenomenon in travellers with fatal malaria: report of two cases

2015 ◽  
Vol 9 (03) ◽  
pp. 321-324 ◽  
Author(s):  
Lurdes Santos ◽  
Nuno Rocha Pereira ◽  
Paulo Andrade ◽  
Paulo Figueiredo Dias ◽  
Carlos Lima Alves ◽  
...  
Keyword(s):  
Diagnostic Tests ◽  
False Negative ◽  
Specific Antigen ◽  
Malaria Diagnosis ◽  
High Sensitivity ◽  
Rapid Diagnostic Tests ◽  
Microscopy Observation ◽  
Negative Results ◽  
False Negative Results ◽  
Potential Benefits

Malaria diagnosis remains a concern in non-endemic countries, with rapid diagnosis being crucial to improve patients’ outcome. Rapid diagnostic tests have high sensitivity but they also have flaws and false-negative results that might jeopardize malaria diagnosis. Some false-negative results might relate to a prozone-like effect. The authors describe two patients with false-negative rapid diagnostic tests in which a prozone-like effect might have been involved. The authors highlight that these tests should not be used without accompanying light microscopy observation of blood films and discuss potential benefits of using rapid diagnostic tests with more than one specific antigen for Plasmodium falciparum.

scholarly journals Assessment of the IgA Immunoassay Diagnostic Potential of the Mycobacterium tuberculosis MT10.3-MPT64 Fusion Protein in Tuberculous Pleural Fluid

2010 ◽  
Vol 17 (12) ◽  
pp. 1963-1969 ◽  
Author(s):  
Leonardo Silva Araujo ◽  
Renata Maciel Moraes ◽  
Anete Trajman ◽  
Maria Helena Féres Saad
Keyword(s):  
Pleural Fluid ◽  
Histopathological Examination ◽  
False Negative ◽  
High Sensitivity ◽  
Enzyme Linked Immunosorbent Assay ◽  
Negative Results ◽  
Diagnostic Potential ◽  
False Negative Results ◽  
Sds Page ◽  
Increased Sensitivity

ABSTRACT Pleural tuberculosis (PL-TB) remains difficult to diagnose. An enzyme-linked immunosorbent assay (ELISA) was developed based on a construction containing the fusion of the Rv3019c (MT10.3) and Rv1980c (MPT64) gene sequences, and its performance was evaluated in an area where TB is endemic. A total of 92 pleural fluid (PF) samples at serial dilutions of 1:50 to 1:800 were included in the ELISA IgA MT10.3-MPT64 evaluation: 70 from TB patients and 22 from patients with other pleurisies. Confirmation of the expression and subsequent purification of the protein was made by SDS-PAGE and Western blot assays, resulting in a 36-kDa protein. ELISA IgA MT10.3-MPT64 showed sensitivities of 61.4%, 58.6%, 62.9%, 67.1%, and 70% at each PF dilution, respectively. The cumulative results of all dilutions increased sensitivity to 81.4% without jeopardizing specificity. Similar results were also obtained at the combined dilutions of 1:50, 1:200, and 1:800 or 1:50 plus 1:800 dilutions (80%). The overall sensitivity of the reference test, i.e., histopathological examination, was 74%. But, via the ELISA IgA MT10.3-MPT64 test, sensitivity was high for specimens with a negative culture (23/27; 85.2%) or nonspecific histopathology (17/18; 94.4%). Our findings demonstrated the promising use of this test as an adjunct in PL-TB diagnoses, particularly in cases with lower bacterial loads and false-negative results in the reference tests, since the new test includes such important features as quick and easy application, high sensitivity and, perhaps most importantly, affordability, which is so crucial for its widespread use in developing countries.

scholarly journals A Novel Graphic-Aided Algorithm (gNIPT) Improves the Accuracy of Noninvasive Prenatal Testing

2020 ◽  
Vol 2020 ◽  
pp. 1-10
Author(s):  
Qingwen Zhu ◽  
Jing Wang ◽  
Xiaoning Xu ◽  
Shiying Zhou ◽  
Zhengli Liao ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
False Negative ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Negative Control ◽  
Trisomy 13 ◽  
Singleton Pregnancy ◽  
Noninvasive Prenatal Testing ◽  
Number Variation

Noninvasive Prenatal Testing (NIPT) has advanced the detection of fetal chromosomal aneuploidy by analyzing cell-free DNA in peripheral maternal blood. The statistic Z-test that it utilizes, which measures the deviation of each chromosome dosage from its negative control, is now widely accepted in clinical practice. However, when a chromosome has loss and gain regions which offset each other in the z-score calculation, merely using the Z-test for the result tends to be erroneous. To improve the performance of NIPT in this aspect, a novel graphic-aided algorithm (gNIPT) that requires no extra experiment procedures is reported in this study. In addition to the Z-test, this method provides a detailed analysis of each chromosome by dividing each chromosome into multiple 2 Mb size windows, calculating the z-score and copy number variation of each window, and visualizing the z-scores for each chromosome in a line chart. Data from 13537 singleton pregnancy women were analyzed and compared using both the normal NIPT (nNIPT) analysis and the gNIPT method. The gNIPT method had significantly improved the overall positive predictive value (PPV) of nNIPT (88.14% vs. 68.00%, p=0.0041) and the PPV for trisomy 21 (T21) detection (93.02% vs. 71.43%, p=0.0037). There were no significant differences between gNIPT and nNIPT in PPV for trisomy 18 (T18) detection (88.89% vs. 63.64%, p=0.1974) and in PPV for trisomy 13 (T13) detection (57.14% vs. 50.00%, p=0.8004). One false-negative T18 case in nNIPT was detected by gNIPT, which demonstrates the potency of gNIPT in discerning chromosomes that have variation in multiple regions with an offsetting effect in z-score calculation. The gNIPT was also able to detect copy number variation (CNV) in chromosomes, and one case with pathogenic CNV was detected during the study. With no additional test requirement, gNIPT presents a reasonable solution in improving the accuracy of normal NIPT.

scholarly journals Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yuan Cheng ◽  
Xinran Lu ◽  
Junxiang Tang ◽  
Jingran Li ◽  
Yuxiu Sun ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Clinical Value ◽  
Non Invasive ◽  
Negative Results ◽  
Negative Case ◽  
Twin Pregnancies

Abstract Objective To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. Materials and methods In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery. Results Thirteen women had positive NIPT results as follows: 2 cases of trisomy 21 (T21), 1 of trisomy 18 (T18), 7 of sex chromosome aneuploidy (SCA), 1 of microdeletion, and 2 of microduplication. Of these 13 cases, 2 were true-positive cases confirmed by foetal karyotype analysis, namely, 1 case of T21 and 1 of microdeletion. Furthermore, the remaining 11 high-risk pregnant women were confirmed as false positive by foetal karyotyping. Thus, the combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13). There were no false-negative case via our follow-up results. Conclusion Safe and rapid NIPT has a certain clinical application value; however, the PPV is limited, and the screening efficiency is not stable. Careful use should be made in the screening of chromosomal abnormalities in twin pregnancies.

Role and limits of testicular phleboscintigraphy in the diagnostic evaluation of varicocele

1994 ◽  
Vol 61 (2) ◽  
pp. 98-102
Author(s):  
A. Raimoldi ◽  
G.L. Berti ◽  
V. Giola ◽  
G.L. Leidi ◽  
A. Maccaroni ◽  
...  
Keyword(s):  
Doppler Ultrasonography ◽  
Low Cost ◽  
False Negative ◽  
High Sensitivity ◽  
Diagnostic Evaluation ◽  
Ultrasound Technique ◽  
Negative Results ◽  
False Negative Results ◽  
First Choice ◽  
Choice Method

The Authors wanted to check the reliability of testicular phleboscintigraphy in the diagnostic evaluation of varicocele, comparing it to Doppler ultrasonography. To this end, 98 patients affected by clinically evident left idiopathic varicocele were tested. The two methods gave equivalent results in all patients affected by 2nd and 3rd clinical degree varicocele, while testicular phleboscintigraphy gave false negative results in 7 patients with 1st degree varicocele, due to renospermatic retrograde flow. Therefore, in the Authors' opinion, the Doppler ultrasound technique can be considered as a first choice method in the study of varicocele, thanks to its high sensitivity associated with low cost, whereas testicular phleboscintigraphy can be used either when Doppler ultrasonography evaluation is not reliable or as a second examination to confirm the Doppler results, especially in patients with 2nd and 3rd clinical degree varicocele.

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