scholarly journals Application of mosaicism ratio to multifetal gestations

PLoS ONE ◽  
2021 ◽  
Vol 16 (3) ◽  
pp. e0248467
Author(s):  
Jill Rafalko ◽  
Samantha Caldwell ◽  
Erica Soster ◽  
Eyad Almasri ◽  
Graham McLennan ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Massively Parallel Sequencing ◽  
Sequencing Data ◽  
Aneuploid Chromosome ◽  
Cfdna Screening ◽  
Positive Results ◽  
Diagnostic Outcomes ◽  
Screening Result ◽  
Fetal Fraction

Mosaicism ratio, or MR, is a laboratory metric that can be calculated using massively parallel sequencing data from cell-free DNA (cfDNA) screening. MR compares the amount of cfDNA present from a particular chromosome or chromosomal region to the overall fetal fraction of the specimen. In singleton gestations, MR may be used to refine the positive predictive value of an abnormal cfDNA screening result by identifying cases that could be impacted by various biological factors, such as placental mosaicism or prior co-twin demise. The current study was designed to examine the behavior of mosaicism ratio (MR) in multifetal gestations. Multifetal cfDNA specimens with positive results for trisomies 21, 18, or 13 and confirmed diagnostic outcomes were compiled to examine MR of the aneuploid chromosome based on the number of affected fetuses/placentas. A second multifetal cohort was assembled to analyze the MR of the Y chromosome in cases with at least one male fetus. For aneuploid cases, the average MR of affected singletons (used as a biological proxy for two affected twins) was significantly higher than the average MR for twins in which one fetus was affected. The average MR of the aneuploid chromosome for one affected twin was 52%, 42%, and 48% of that of singleton gestations for trisomy 21, 18, and 13 cases, respectively. MR cutoffs of 0.7 for trisomy 21, and 0.5 for trisomies 18 and 13 may help predict whether one versus both twins are affected with aneuploidy when clinical concern arises. For male cases, the Y MR of XX/XY gestations was 48% of the Y MR for XY/XY gestations. Using a Y MR cutoff of 0.8 allowed determination of XX/XY versus XY/XY gestations with 92.3–94.9% accuracy. Based on the data presented, MR may have utility in the analysis and interpretation of cfDNA data from multifetal gestations.

Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci

2005 ◽  
Vol 25 (12) ◽  
pp. 1138-1141 ◽  
Author(s):  
Bálint Nagy ◽  
Zoltán Bán ◽  
Levente Lázár ◽  
Richárd Gyula Nagy ◽  
Csaba Papp ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Trisomy 21 ◽  
Rapid Determination ◽  
Single Nucleotide Polymorphic ◽  
Single Nucleotide ◽  
Polymorphic Loci ◽  
Amniotic Fluid Cells

scholarly journals Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β-Thalassemia

2012 ◽  
Vol 58 (10) ◽  
pp. 1467-1475 ◽  
Author(s):  
Kwan-Wood G Lam ◽  
Peiyong Jiang ◽  
Gary J W Liao ◽  
K C Allen Chan ◽  
Tak Y Leung ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Massively Parallel Sequencing ◽  
Globin Gene ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Sequencing Data ◽  
Plasma Dna ◽  
Parallel Sequencing ◽  
Noninvasive Prenatal Diagnosis ◽  
Monogenic Diseases

Abstract BACKGROUND A genomewide genetic and mutational profile of a fetus was recently determined via deep sequencing of maternal plasma DNA. This technology could have important applications for noninvasive prenatal diagnosis (NIPD) of many monogenic diseases. Relative haplotype dosage (RHDO) analysis, a core step of this procedure, would allow one to elucidate the maternally inherited half of the fetal genome. For clinical applications, the cost and complexity of data analysis might be reduced via targeted application of this approach to selected genomic regions containing disease-causing genes. There is thus a need to explore the feasibility of performing RHDO analysis in a targeted manner. METHODS We performed target enrichment by using solution-phase hybridization followed by massively parallel sequencing of the β-globin gene region in 2 families undergoing prenatal diagnosis for β-thalassemia. We used digital PCR strategies to physically deduce parental haplotypes. Finally, we performed RHDO analysis with target-enriched sequencing data and parental haplotypes to reveal the β-thalassemic status for the fetuses. RESULTS A mean sequencing depth of 206-fold was achieved in the β-globin gene region by targeted sequencing of maternal plasma DNA. RHDO analysis was successful for the sequencing data obtained from the target-enriched samples, including a region in one of the families in which the parents had similar haplotype structures. Data analysis revealed that both fetuses were heterozygous carriers of β-thalassemia. CONCLUSIONS Targeted sequencing of maternal plasma DNA for NIPD of monogenic diseases is feasible.

MO432COMPARATIVE ANALYSIS OF INDIRECT IMMUNOFLUORESCENCE AND ENZYME-LINKED IMMUNOSORBENT ASSAYS FOR ANTI-PLA2R ASSESMENT IN PATIENTS WITH PRIMARY MEMBRANOUS NEPHROPATHY

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Olga Galkina ◽  
Evdokia Bogdanova ◽  
Irina Zubina ◽  
Elena Levykina ◽  
Alexei Smirnov
Keyword(s):  
Indirect Immunofluorescence ◽  
Membranous Nephropathy ◽  
Laboratory Diagnosis ◽  
Response To Therapy ◽  
Control Group ◽  
Course Of Disease ◽  
Phospholipase A2 Receptor ◽  
Gender And Age ◽  
Positive Results

Abstract Background and Aims Antibodies to M-type phospholipase A2 receptor (PLA2R-Ab) are considered to be a promising biomarker for laboratory diagnosis of primary membranous nephropathy (PMN) and may be useful in the evaluation of the response to therapy and CKD prognosis. The aim of the study was to compare two immunoassay methods – indirect immunofluorescence (IIF) and enzyme immunoassay (ELISA) for the determination of circulating PLA2R-Ab in patients with PMN. Method The study included 54 patients aged 55 (40-63) yrs. (M: F [33:21]) with PMN before treatment (n=16) and treated with immunosuppressive therapy (IST) (n=38), and apparently healthy individuals of the corresponding gender and age (n=10). Proteinuria and estimated glomerular filtration rate (eGFR) were determined in all participants. The levels of PLA2R-Ab were determined by IIF and quantitative/ semi-quantitative ELISA (EURUIMMUN AG test, Germany). In 16 PMN patients without treatment and 28 PMN patients treated with IST the level of PLA2R-Ab was measured one time and in 10 PMN patients treated IST – in dynamic, from 2 to 5 times. Statistical comparisons among groups were performed using Mann–Whitney U-test and Kruskal-Wallis H tests. The association between variables was estimated using Spearman’s coefficient. Sensitivity and specificity of the methods were calculated. Results The correlation coefficient between IIF and ELISA was 0.82 (p <0.005). There were more PLA2R-Ab-positive cases detected by ELISA, both before treatment (ELISA - 80%, IIF - 67%) and among patients treated with IST (ELISA - 63%, IIF - 50%). In control group, ELISA showed no positive results for PLA2R-Ab (specificity was 100%). The levels of proteinuria and eGFR were associated with autoantibodies determined by ELISA, both quantitative and semi-quantitative (proteinuria: r = 0.69, p = 0.001; eGFR: r = -0.38, p = 0.035) but not by IIF (proteinuria: r=0.33, p=0.061; eGFR: r=-0.26, p=0.082). The levels of PLA2R-Ab measured by ELISA correlated with the course of disease in patients treated with IST, while IIF did not show any dynamics is some cases. Conclusion Both quantitative and semi-quantitative ELISA were considered to be more preferable methods since the obtained results correlate with renal dysfunction and allow to assess the concentration of PLA2R-Ab in the course of disease more accurately, that may contribute to timely correction of treatment and improvement of outcome.

POSSIBILITIES OF A LABORATORY TEST BASED ON THE DETERMINATION OF THE T-CELL RESPONSE TO STIMULATION WITH SPECIFIC CFP10 AND ESAT6 ANTIGENS IN THE DETECTION OF TUBERCULOSIS INFECTION IN CHILDREN AND ADOLESCENTS

2021 ◽  
Vol 100 (4) ◽  
pp. 128-132
Author(s):  
R.H. Fatykhova ◽  
◽  
L.А. Bаryshnikovа ◽  
D.A. Kudlay ◽  
A.P. Alekseev ◽  
...  
Keyword(s):  
Laboratory Test ◽  
Children And Adolescents ◽  
Retrospective Cohort ◽  
T Cell Response ◽  
Tuberculosis Infection ◽  
Mantoux Test ◽  
History Of ◽  
Positive Results ◽  
Reverse Development

Objective of the study: to explore the possibilities of T-SPOT.TB testing to detect tuberculosis infection (TI) in children and adolescents. Materials and methods of research: the design – a multicenter retrospective cohort noncomparative uncontrolled study. The results of examination of children aged 1 to 17 years using the T-SPOT.TB test (n=1565): 774 boys (49,5%), 791 girls (50,5%). The median age of children is 8 [5; 13] years. Results: the rate of positive T-SPOT.TB tests was 7,2% (n=113). Further examination and in-depth examination of children with positive results (n=28), in every 4th case, a history of contact with a tuberculosis (TB) patient was established, every 4th child had previously been under treatment with phthisiatrician. The coincidence of positive results of the T-SPOT.TB test with the Mantoux test – in 87%, with the test with a recombinant tuberculosis allergen – in 100% of cases. Local TB in the phase of reverse development was detected in one child (4%), active TB – in 2 (7%). Conclusion: the T-SPOT.TB test is an alternative method for screening children for TI.

Interference by Tin in AOAC Dry-Ash Voltammetric Method for Determination of Lead and Cadmium in Canned Foods

1988 ◽  
Vol 71 (4) ◽  
pp. 857-859
Author(s):  
Walter Holak ◽  
John J Specchio
Keyword(s):  
Tartaric Acid ◽  
False Positive ◽  
Supporting Electrolyte ◽  
Canned Food ◽  
Voltammetric Method ◽  
Lead And Cadmium ◽  
Anodic Stripping ◽  
Canned Foods ◽  
Positive Results

Abstract When lead and cadmium were determined in samples of canned food by the AOAC anodic stripping voltammetric method, an interference was observed which was believed to be tin(IV). This interference could cause false positive results for lead and cadmium. The electroactivity of tin(IV) was suppressed by increasing the concentration of tartaric acid in the supporting electrolyte from 0.005M to 0.1M after mixing with an equal volume of sample solution.

scholarly journals SICTIN: Rapid footprinting of massively parallel sequencing data

2010 ◽  
Vol 3 (1) ◽  
Author(s):  
Stefan Enroth ◽  
Robin Andersson ◽  
Claes Wadelius ◽  
Jan Komorowski
Keyword(s):  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Sequencing Data ◽  
Parallel Sequencing

scholarly journals Analysis of operating variables for Yerba mate leaves supercritical carbon dioxide extraction

2018 ◽  
Vol 24 (3) ◽  
pp. 231-238 ◽  
Author(s):  
Branislava Teofilovic ◽  
Nevena Grujic-Letic ◽  
Strahinja Kovacevic ◽  
Sanja Podunavac-Kuzmanovic ◽  
Slobodan Gadzuric
Keyword(s):  
Potassium Chloride ◽  
Current Source ◽  
Economic Feasibility ◽  
Superior Performance ◽  
Yerba Mate ◽  
Operating Variables ◽  
Carbon Dioxide Extraction ◽  
Increasing Demand ◽  
Positive Results

Given the increasing demand for potassium in Brazil, the mining and use of carnallite is becoming increasingly important, because the current source of potassium, sylvinite, is being depleted and there is a risk of shortages. Based on theoretical and practical data available in existing literature, this work describes the development, simulation, and economic feasibility of a process for dissolution and crystallization of potassium chloride from carnallite ore. Positive results were obtained following the application of the Hoffman diagram and determination of the corresponding equation. The proposed process provided over 85% potassium chloride crystallization, demonstrating its superior performance, compared to existing procedures.

scholarly journals High-resolution sweep metagenomics using fast probabilistic inference

2018 ◽  
Author(s):  
Tommi Mäklin ◽  
Teemu Kallonen ◽  
Sophia David ◽  
Christine J. Boinett ◽  
Ben Pascoe ◽  
...  
Keyword(s):  
High Resolution ◽  
False Positive ◽  
Bacterial Communities ◽  
Probabilistic Inference ◽  
Detection Accuracy ◽  
Probabilistic Modelling ◽  
Sequencing Data ◽  
Close Relatives ◽  
Major Pathogens ◽  
Positive Results

AbstractDetermining the composition of bacterial communities beyond the level of a genus or species is challenging because of the considerable overlap between genomes representing close relatives. Here, we present the mSWEEP method for identifying and estimating the relative abundances of bacterial lineages from plate sweeps of enrichment cultures. mSWEEP leverages biologically grouped sequence assembly databases, applying probabilistic modelling, and provides controls for false positive results. Using sequencing data from major pathogens, we demonstrate significant improvements in lineage quantification and detection accuracy. Our method facilitates investigating cultures comprising mixtures of bacteria, and opens up a new field of plate sweep metagenomics.

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