D-karyo—A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism

Chromosomal microarray analysis (CMA), recently introduced following conventional cytogenetic technology, can detect submicroscopic copy-number variations (CNVs) in cases previously diagnosed as “cytogenetically benign”. At present, rapid and accurate chromosomal analysis is required in prenatal diagnostics, but prenatal CMA is not widely used due to its high price and long turnaround time. We introduced a new prenatal screening method named digital karyotyping (D-karyo), which utilizes a preimplantation genetic test for the aneuploidy (PGT-A) platform. First, we conducted a preliminary experiment to compare the original PGT-A method to our modified method. Based on the preliminary results, we decided to implement the modified strategy without whole-genome amplification (WGA) and combined it with three analytical software packages. Next, we conducted a prospective study with 824 samples. According to the indication for invasive tests, the D-karyo positive rates were 2.5% and 5.0%, respectively, in the screening positive group with NT ≥ 3.5 mm and the group with fetal abnormalities by ultrasound. D-karyo is a breakthrough modality that can detect submicroscopic CNVs ≥ 1.0 Mb accurately in only 10.5 h for 24 samples at a low cost. Implementing D-karyo as a prenatal rapid screening test will reduce unnecessary CMA and achieve more accurate prenatal genetic testing than G-banding.

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Rapid Screening Test for Primary Hyperaldosteronism: Ratio of Plasma Aldosterone to Renin Concentration Determined by Fully Automated Chemiluminescence Immunoassays

Clinical Chemistry ◽

10.1373/clinchem.2004.033159 ◽

2004 ◽

Vol 50 (9) ◽

pp. 1650-1655 ◽

Cited By ~ 73

Author(s):

Frank Holger Perschel ◽

Rudolf Schemer ◽

Lysann Seiler ◽

Martin Reincke ◽

Jaap Deinum ◽

...

Keyword(s):

Screening Test ◽

Screening Method ◽

Plasma Renin ◽

Preliminary Evidence ◽

Plasma Aldosterone ◽

Primary Hyperaldosteronism ◽

Rapid Screening ◽

Plasma Aldosterone Concentration ◽

Rapid Screening Test ◽

Edta Plasma

Abstract Background: The ratio of plasma aldosterone concentration to plasma renin activity (PAC/PRA) is the most common screening test for primary hyperaldosteronism (PHA), but it is not standardized among laboratories. We evaluated new automated assays for the simultaneous measurement of PAC and plasma renin concentration (PRC). Methods: We studied 76 healthy normotensive volunteers and 28 patients with confirmed PHA. PAC and PRC were measured immunochemically in EDTA plasma on the Nichols Advantage® chemiluminescence analyzer, and PRA was determined by an activity assay. Results: In volunteers, PAC varied from 33.3 to 1930 pmol/L, PRA from 1.13 to 19.7 ng · mL−1 · h−1 (0.215 ng · mL−1 · h−1 = 1 pmol · L−1 · s−1), and PRC from 5.70 to 116 mU/L. PAC/PRA ratios ranged from 4.35 to 494 (pmol/L)/(ng · mL−1 · h−1) and PAC/PRC ratios from 0.69 to 71.0 pmol/mU. In PHA patients, PAC ranged from 158 to 5012 pmol/L, PRA from 0.40 to 1.70 ng · mL−1 · h−1, and PRC from 0.80 to 11.7 mU/L. PAC/PRA ratios were between 298 and 6756 (pmol/L)/(ng · mL−1 · h−1) and PAC/PRC ratios between 105 and 2328 pmol/mU. Whereas PAC or PRC showed broad overlap between PHA patients and volunteers, the PAC/PRC ratio indicated distinct discrimination of these two groups at a cutoff of 71 pmol/mU. Conclusion: The PAC/PRC ratio offers several practical advantages compared with the PAC/PRA screening method. The present study offers preliminary evidence that it may be a useful screening test for PHA. Further studies are required to validate these results, especially in hypertensive cohorts.

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Translational Study of Copy Number Variations in Schizophrenia

International Journal of Molecular Sciences ◽

10.3390/ijms23010457 ◽

2021 ◽

Vol 23 (1) ◽

pp. 457

Author(s):

Min-Chih Cheng ◽

Wei-Hsien Chien ◽

Yu-Shu Huang ◽

Ting-Hsuan Fang ◽

Chia-Hsiang Chen

Keyword(s):

Screening Test ◽

Copy Number ◽

Large Scale ◽

Cost Effective ◽

Copy Number Variations ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Two Stage ◽

Translational Study ◽

Analysis Group

Rare copy number variations (CNVs) are part of the genetics of schizophrenia; they are highly heterogeneous and personalized. The CNV Analysis Group of the Psychiatric Genomic Consortium (PGC) conducted a large-scale analysis and discovered that recurrent CNVs at eight genetic loci were pathogenic to schizophrenia, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.23, 15q13.3, distal 16p11.2, proximal 16p11.2, and 22q11.2. We adopted a two-stage strategy to translate this knowledge into clinical psychiatric practice. As a screening test, we first developed a real-time quantitative PCR (RT-qPCR) panel that simultaneously detected these pathogenic CNVs. Then, we tested the utility of this screening panel by investigating a sample of 557 patients with schizophrenia. Chromosomal microarray analysis (CMA) was used to confirm positive cases from the screening test. We detected and confirmed thirteen patients who carried CNVs at these hot loci, including two patients at 1q21.1, one patient at 7q11.2, three patients at 15q13.3, two patients at 16p11.2, and five patients at 22q11.2. The detection rate in this sample was 2.3%, and the concordance rate between the RT-qPCR test panel and CMA was 100%. Our results suggest that a two-stage approach is cost-effective and reliable in achieving etiological diagnosis for some patients with schizophrenia and improving the understanding of schizophrenia genetics.

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Confirmation of Results of Rapid Screening Test for Aflatoxins Performed at Corn Elevator

Journal of AOAC INTERNATIONAL ◽

10.1093/jaoac/59.6.1419 ◽

1976 ◽

Vol 59 (6) ◽

pp. 1419-1421

Author(s):

Odette L Shotwell ◽

Gail M Shannon ◽

Marion L Goulden

Keyword(s):

Screening Test ◽

Animal Feed ◽

Screening Method ◽

Rapid Screening ◽

Total Aflatoxin ◽

Corn Products ◽

Rapid Screening Test ◽

Aoac Method

Abstract A screening method for corn and corn products, based on a minicolumn, was modified slightly to assay 60 lots of corn at one elevator to determine whether they could be sold as animal feed. To be salable, the lots had to contain less than 20 ppb total aflatoxin. Aflatoxin levels in the lots were later determined by the official AOAC method for corn to check effectiveness of the screening. No lot had been designated for sale that contained 20 or more ppb total aflatoxin.

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Comparison between the Traditional and a Rapid Screening Test for Cryoimmunoglobulins Detection

BioMed Research International ◽

10.1155/2015/783063 ◽

2015 ◽

Vol 2015 ◽

pp. 1-6 ◽

Cited By ~ 5

Author(s):

Federica Romitelli ◽

Leopoldo Paolo Pucillo ◽

Umberto Basile ◽

Enrico Di Stasio

Keyword(s):

Screening Test ◽

Low Cost ◽

Rapid Test ◽

Rapid Screening ◽

Serum Samples ◽

Rapid Screening Test ◽

Design And Methods ◽

Kinetics Of ◽

Maximum Turbidity

Objectives. A new rapid, automatic, and sensitive screening test useful to detect cryoglobulins in serum samples is proposed.Design and Methods. The increase of turbidity during the cryoglobulin aggregation was monitored spectrophotometrically in sera from 400 patients with clinical evidence of cryoglobulinemia related disorders and 100 controls. Results were correlated to those obtained by the traditional method.Results. Kinetics of the aggregation curves were described by their maximum turbidity increase, lag time, and slope. Despite a partial correspondence between the traditional and the rapid test, patients with symptomatic cryoglobulinemia showed turbidity values significantly higher than the determined cutoff. Moreover, a functional classification of cryoglobulins is proposed.Conclusions. Due to its high reproducibility, operator independence, low cost, and results obtained within 2 hours, the rapid test can be used as a “real time” monitoring of cryoglobulinemia related diseases and for the evaluation of plasmapheresis efficacy.

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Rapid screening test for porphyrinuria

Archives of Dermatology ◽

10.1001/archderm.102.2.237 ◽

1970 ◽

Vol 102 (2) ◽

pp. 237-237

Author(s):

R. M. McDonald

Keyword(s):

Screening Test ◽

Rapid Screening ◽

Rapid Screening Test

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Electrocardiogram lead selection for intelligent screening of patients with systolic heart failure

Scientific Reports ◽

10.1038/s41598-021-81374-6 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Yu-An Chiou ◽

Jhen-Yang Syu ◽

Sz-Ying Wu ◽

Lian-Yu Lin ◽

Li Tzu Yi ◽

...

Keyword(s):

Heart Failure ◽

Low Cost ◽

Screening Method ◽

Systolic Heart Failure ◽

Rapid Screening ◽

Ecg Signals ◽

Testing Dataset ◽

Lead Selection ◽

Ecg Leads ◽

Intelligent Screening

AbstractElectrocardiogram (ECG)-based intelligent screening for systolic heart failure (HF) is an emerging method that could become a low-cost and rapid screening tool for early diagnosis of the disease before the comprehensive echocardiographic procedure. We collected 12-lead ECG signals from 900 systolic HF patients (ejection fraction, EF < 50%) and 900 individuals with normal EF in the absence of HF symptoms. The 12-lead ECG signals were converted by continuous wavelet transform (CWT) to 2D spectra and classified using a 2D convolutional neural network (CNN). The 2D CWT spectra of 12-lead ECG signals were trained separately in 12 identical 2D-CNN models. The 12-lead classification results of the 2D-CNN model revealed that Lead V6 had the highest accuracy (0.93), sensitivity (0.97), specificity (0.89), and f1 scores (0.94) in the testing dataset. We designed four comprehensive scoring methods to integrate the 12-lead classification results into a key diagnostic index. The highest quality result among these four methods was obtained when Leads V5 and V6 of the 12-lead ECG signals were combined. Our new 12-lead ECG signal–based intelligent screening method using straightforward combination of ECG leads provides a fast and accurate approach for pre-screening for systolic HF.

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