scholarly journals Ethnic-specific reference range affects the efficacy of quadruple test as a universal screening for Down syndrome in a developing country

PLoS ONE ◽  
2021 ◽  
Vol 16 (5) ◽  
pp. e0251381
Author(s):  
Savitree Pranpanus ◽  
Ounjai Kor-anantakul ◽  
Thitima Suntharasaj ◽  
Chitkasaem Suwanrath ◽  
Tharangrut Hanprasertpong ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Gestational Age ◽  
False Positive ◽  
Detection Rate ◽  
Reference Range ◽  
Risk Estimation ◽  
False Positive Rate ◽  
Specific Reference ◽  
The Impact ◽  
Ethnic Factor

Objective To evaluate the efficacy of the quadruple test for potential use as a Thai national policy for Down syndrome (DS) screening and establish an accurate equation for risk estimation of Down syndrome based on gestational age, weight and the ethnic-specific reference range of our population. Methods A prospective study was conducted on singleton pregnancies at 14 to 21 weeks of gestation to evaluate the efficacy of quadruple DS screening using the automatically calculated Western European descent factor (WF) in our population and the impact of screening using a specific Thai ethnic factor as well as to establish an equation for the risk estimation of DS based on gestational age, weight and a local Thai ethnic factor to correct for the impact of ethnic factor on the screening efficacy. Results Of a total of 5,515 women, 12 cases of DS and 8 cases of other aneuploidies were found. The detection rate, false positive rate and specificity were 75.0%, 9.1% and 90.9%, respectively, by automatic calculation with the widely used WF; the screening efficacy was lower when used in Asian populations than in other studies. The best-fitted regression equation of serum quadruple screening of AFP, free β-hCG, uE3 and inhibin A was established by adjustment for gestational age (GA) in days, maternal weight and our Thai-specific ethnic reference range which was created for this study. Calculations with our Thai-specific ethnic model gave a better detection rate of 83.3%, a false positive rate of 9.6% and specificity of 90.4%. Conclusion The serum quadruple test had a lower detection rate than expected when the risk estimation was based on the WF reference range. The serum quadruple test using WF had significantly different levels when corrected with our ethnic-specific factor. Using our local ethnic specific model could increase the detection rate of DS screening in Thailand with a minimal increase in false positive rates. Our findings indicate that DS screening should be adjusted with an appropriate individual ethnic factor when used for national screening.

scholarly journals First Trimester Genetic Sonogram for Screening Fetal Down Syndrome: a Population-based Study

2020 ◽  
Author(s):  
Kuntharee Traisrisilp ◽  
Supatra Sirichotiyakul ◽  
Fuanglada Tongprasert ◽  
Kasemsri Srisupun ◽  
Suchaya Luewan ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
False Positive ◽  
Detection Rate ◽  
False Positive Rate ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Positive Rate

Abstract Background: To evaluate the performance of first trimester sonomarkers in the detection of fetal Down syndrome among Thai pregnant womenMethods: Pregnant women at 11-13+6 weeks’ gestation underwent ultrasound examination for assessment of nuchal translucency (NT), nasal bone (NB), tricuspid regurgitation (TR), and abnormal ductus venosus (aDV) Doppler waveforms. The women were followed up for final outcomes. Fetal abnormalities other than trisomy 21 were excluded. The performances of each sonomarker and their combinations in predicting fetal Down syndrome were calculated.Results: A total of 7,820 pregnant women meeting the inclusion criteria were available for analysis, including 20 cases with fetal Down syndrome and 7,800 unaffected cases. Of the four sonomarkers, NT, as a single sonomarker, had the highest detection rate (55.0% at a false positive rate of about 5%), whereas the remaining single sonomarkers had low detection rate (15-20%). The combination of all sonomarkers had the highest detection rate of 70% but the false positive rate was as high as 10.8%. The combination of NT and NB had a detection rate of 60% with an acceptable false positive rate of 6.9%, whereas the other combinations yielded relatively high false positive rates. Conclusion: The first trimester genetic sonogram in screening for Down syndrome among Asian women is acceptably effective and may be offered to some selected groups of the population. NT is the best sonomarker with a detection rate of 55% at 5% false positive rate and its combination with NB can improve performance with minimal increase in false positive rate.

scholarly journals Hyperglycosylated Human Chorionic Gonadotropin (Invasive Trophoblast Antigen) Immunoassay: A New Basis for Gestational Down Syndrome Screening

1999 ◽  
Vol 45 (12) ◽  
pp. 2109-2119 ◽  
Author(s):  
Laurence A Cole ◽  
Shohreh Shahabi ◽  
Utku A Oz ◽  
Ray O Bahado-Singh ◽  
Maurice J Mahoney
Keyword(s):  
Down Syndrome ◽  
False Positive ◽  
False Positive Rate ◽  
Normal Karyotype ◽  
Screen Test ◽  
Β Subunit ◽  
Second Trimester ◽  
Marker Test ◽  
Positive Rate ◽  
Down Syndrome Screening

Abstract Background: Serum human chorionic gonadotropin (hCG) and hCG free β-subunit tests are used in combination with unconjugated estriol and α-fetoprotein in the triple screen test, and with the addition of inhibin-A in the quadruple marker test for detecting Down syndrome in the second trimester of pregnancy. These tests have a limited detection rate for Down syndrome: ∼40% for hCG or free β-subunit alone, ∼60% for the triple screen test, and ∼70% for the quadruple marker test, all at 5%, or a relatively high, false-positive rate. New tests are needed with higher detection and lower false rates. Hyperglycosylated hCG (also known as invasive trophoblast antigen or ITA) is a new test. It specifically detects a unique oligosaccharide variant of hCG associated with Down syndrome pregnancies. We evaluated this new Down syndrome-directed test in prenatal diagnosis. Methods: Hyperglycosylated hCG was measured in urine samples from women undergoing amniocentesis for advanced maternal age concerns at 14–22 weeks of gestation, 1448 with normal karyotype and 39 with Down syndrome fetuses. Results: The median hyperglycosylated hCG value was 9.5-fold higher in Down syndrome cases (9.5 multiples of the normal karyotype median). The single test detected 80% of Down syndrome cases at a 5% false-positive rate. Urine hyperglycosylated hCG was combined with urine β-core fragment (urine breakdown product of serum hCG free β-subunit), serum α-fetoprotein, and maternal age-related risk. This urine-serum combination detected 96% of Down syndrome cases at a 5% false-positive rate, 94% of cases at a 3% false-positive rate, and 71% of cases at a 1% false-positive rate. These detection rates exceed those of any previously reported combination of biochemical markers. Conclusions: Hyperglycosylated hCG is a new base marker for Down syndrome screening in the second trimester of pregnancy. The measurement of hyperglycosylated hCG can fundamentally improve the performance of Down syndrome screening protocols.

Impact of Including or Removing Nuchal Translucency Measurement on the Detection and False-Positive Rates of First-Trimester Down Syndrome Screening

2015 ◽  
Vol 40 (3) ◽  
pp. 214-218 ◽  
Author(s):  
Emmanuel Spaggiari ◽  
Isabelle Czerkiewicz ◽  
Corinne Sault ◽  
Sophie Dreux ◽  
Armelle Galland ◽  
...  
Keyword(s):  
Down Syndrome ◽  
False Positive ◽  
False Positive Rate ◽  
Method Comparison ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Routine Practice ◽  
Detection Rates ◽  
Significant Difference ◽  
Positive Rate

Introduction: First-trimester Down syndrome (DS) screening combining maternal age, serum markers (pregnancy-associated plasma protein-A and beta-human chorionic gonadotropin) and nuchal translucency (NT) gives an 85% detection rate for a 5% false-positive rate. These results largely depend on quality assessment of biochemical markers and of NT. In routine practice, despite an ultrasound quality control organization, NT images can be considered inadequate. The aim of the study was to evaluate the consequences for risk calculation when NT measurement is not taken into account. Material and Method: Comparison of detection and false-positive rates of first-trimester DS screening (PerkinElmer, Turku, Finland), with and without NT, based on a retrospective study of 117,126 patients including 274 trisomy 21-affected fetuses. NT was measured by more than 3,000 certified sonographers. Results: There was no significant difference in detection rates between the two strategies including or excluding NT measurement (86.7 vs. 81.8%). However, there was a significant difference in the false-positive rates (2.23 vs. 9.97%, p < 0.001). Discussion: Sonographers should be aware that removing NT from combined first-trimester screening would result in a 5-fold increase in false-positive rate to maintain the expected detection rates. This should be an incentive for maintaining quality in NT measurement.

scholarly journals Evaluating the Agreement of Risk Categorization for Fetal Down Syndrome Screening between Ultrasound-Based Gestational Age and Menstrual-Based Gestational Age by Maternal Serum Markers

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Pakorn Chaksuwat ◽  
Supatra Sirichotiyakul ◽  
Suchaya Luewan ◽  
Theera Tongsong
Keyword(s):  
Down Syndrome ◽  
Gestational Age ◽  
False Positive Rate ◽  
Serum Markers ◽  
Maternal Serum ◽  
Menstrual Period ◽  
Last Menstrual Period ◽  
Second Trimester Screening ◽  
Risk Categorization ◽  
Down Syndrome Screening

Objective. To evaluate the agreement of risk categorization for Down syndrome screening between ultrasound scan-based gestational age (GA) and last menstrual period-based gestational age in both first and second trimesters by maternal serum markers. Methods. Data comprising 4,055 and 4,016 cases of first and second trimester screening were used. The maternal serum markers were analyzed using the ultrasound-based GA and menstrual age. The subjects whose menstrual age and ultrasound-based GA fell in different trimesters were excluded because the risk could not be calculated due to the different serum markers used in each trimester. The agreement of risk categorization for fetal Down syndrome was evaluated. Results. The agreement of Down syndrome screening in the first and the second trimesters were 92.7% and 89%, respectively. The study found a good agreement of risk categorization by Kappa index, which was 0.615 for the overall screening. The menstrual age had a slight decrease in the detection rate and a lower false-positive rate. Conclusion. Menstrual age is acceptable in cases of accurate last menstrual period. However, in places where ultrasonography is not readily available, gestational age estimation by menstrual age along with clinical examination that corresponds to the gestational age can be reliable.

scholarly journals Rapid and Automatic Detection of Micronuclei in Binucleated lymphocytes Image

2021 ◽  
Author(s):  
Xiang Shen ◽  
Ying Chen ◽  
Chaowen Li ◽  
Fucheng Yang ◽  
Zhanbo Wen ◽  
...  
Keyword(s):  
False Positive ◽  
Detection Rate ◽  
False Positive Rate ◽  
Research Work ◽  
Estimation Method ◽  
Automatic Detection ◽  
Dose Estimation ◽  
Binucleated Cell ◽  
Positive Rate ◽  
Binucleated Lymphocytes

Abstract In terms of radiation biological dose estimation, the cytokinesis block micronucleus (CBMN) assay is the internationally recognized dose estimation method. Due to the subjectivity and the time-consuming of manual detection, it cannot meet the needs of rapid standard assay of CBMN. Therefore, in this research work, we combined the convolutional neural network to design a software that can be used for rapid standard automatic detection of micronuclei in Giemsa stained binucleated lymphocytes image. The software analysis workflow is divided into four stages: cell acquisition, adhesive cell masses segmentation, cell type identification, micronucleus counting. After verification, our algorithm can quickly and effectively detect binucleated cells and micronucleus even when the cytoplasm is blurred, multiple micronucleus are attached to each other, or micronucleus is attached to the nucleus. In the test of a large number of random images, the software reached 99.4% of the manual detection in terms of the detection rate of binucleated cell, and the false positive rate of binucleated cell was 14.7%. In terms of micronucleus detection rate, the software reached 115.1% of manual detection, and its false positive rate was 26.2%. The analysis time of each picture is about 0.3s, an order of magnitude faster than conventional method.

scholarly journals Predicting first-trimester outcome of embryos with cardiac activity in women with recurrent spontaneous abortion

2020 ◽  
Vol 48 (6) ◽  
pp. 030006052091182
Author(s):  
Huixian Li ◽  
Shuang Qin ◽  
Fanfan Xiao ◽  
Yuhong Li ◽  
Yunhe Gao ◽  
...  
Keyword(s):  
Pregnant Women ◽  
False Positive ◽  
Detection Rate ◽  
False Positive Rate ◽  
Cardiac Activity ◽  
First Trimester ◽  
Clinical Indicators ◽  
Early Outcome ◽  
Heart Motion ◽  
Positive Rate

Objective This study was performed to evaluate the capability of routine clinical indicators to predict the early outcome of embryos with cardiac activity in women with recurrent spontaneous abortion (RSA). Methods A retrospective cohort study of pregnant women with a history of RSA in a Chinese tertiary hospital was performed using unadjusted and multivariable logistic regression. Results Of 789 pregnant women with RSA, 625 (79.21%) had ongoing pregnancy, whereas 164 (20.79%) developed abortion before 20 full weeks of gestational age even after embryonic heart motion was detected. The final model had an area under the curve of 0.81 (95% confidence interval, 0.78–0.84) with a sensitivity of 74.39%, a specificity of 76.00%, and a false-positive rate of 52.32% at a fixed detection rate of 90%. Conclusions The combination of multiple routine clinical indicators was valuable in predicting the early outcome of embryos with cardiac activity in viable pregnancies with RSA. However, this model might result in a high false-positive rate with a fixed detection rate of 90%; other markers must be investigated to identify first-trimester RSA once positive embryonic heart motion is established.

Fine-Needle Aspiration of Pulmonary Hamartoma: A Common Source of False-Positive Diagnoses in the College of American Pathologists Interlaboratory Comparison Program in Nongynecologic Cytology

2005 ◽  
Vol 129 (1) ◽  
pp. 19-22 ◽  
Author(s):  
Jonathan H. Hughes ◽  
Nancy A. Young ◽  
David C. Wilbur ◽  
Andrew A. Renshaw ◽  
Dina R. Mody
Keyword(s):  
Fine Needle Aspiration ◽  
False Positive ◽  
Interlaboratory Comparison ◽  
False Positive Rate ◽  
Diagnostic Errors ◽  
Needle Aspiration ◽  
Specific Reference ◽  
Common Source ◽  
Fine Needle ◽  
Pulmonary Hamartoma

Abstract Context.—We use data from the College of American Pathologists Interlaboratory Comparison Program in Nongynecologic Cytology to evaluate the accuracy of fine-needle aspiration (FNA) biopsy for diagnosing pulmonary hamartoma (PH). Objective.—To use the performance characteristics of the PH cases in the Nongynecologic Cytology Program to determine the accuracy of FNA for identifying these lesions and to determine potential sources of interpretative errors. Design.—A retrospective review of the College of American Pathologists Nongynecologic Cytology cumulative data from 1997 to 2003 was performed to identify the overall accuracy of FNA for diagnosing PH and to determine the most common interpretative pitfalls. The slides from each of the cases of PH in the Nongynecologic Cytology Program were then reviewed in an effort to identify the cytologic characteristics that contributed to the poor performance of these cases. Results.—A total of 766 participant responses for 19 PH FNA specimens were reviewed. The specificity of FNA for making the correct general reference interpretation of benign was 78%. The false-positive rate was 22%, with the most common false-positive diagnoses being carcinoid tumor, adenocarcinoma, and small cell carcinoma. The overall accuracy for making the correct specific reference diagnosis of PH was 26%. Microscopic review of the individual cases revealed possible explanations for some of the interpretative errors and the most frequent false-positive interpretations. Conclusions.—Cytologists should be aware of the potential false-positive interpretations that can occur in FNAs of PH and the potential reasons for these inaccuracies in order to minimize clinically significant diagnostic errors.

An evaluation of tail paint as an aid or alternative to oestrus detection

1983 ◽  
Vol 37 (2) ◽  
pp. 221-227 ◽  
Author(s):  
M. J. Ducker ◽  
Rosemary A. Haggett ◽  
W. J. Fisher ◽  
Glenys A. Bloomfield ◽  
S. V. Morant
Keyword(s):  
False Positive ◽  
Detection Rate ◽  
False Positive Rate ◽  
Critical Time ◽  
Successful Pregnancy ◽  
Service Period ◽  
Significant Difference ◽  
Positive Rate ◽  
The Mean ◽  
Paint Removal

ABSTRACTOne hundred Friesian heifers were tail-painted between 14 and 21 days after calving. Once a week the paint strip was renewed if any paint had been removed. Over the whole period of observation the ovulation detection rate by definite signs of oestrus was high (0·79), whilst the proportion of silent ovulations detected by tail paint removal was low (0·10). In addition, tail paint was not removed on 0·28 of the occasions when definite oestrus with ovulation occurred and on 0·26 of the occasions when all the paint was removed it was not associated with any reproductive event. In practice, the critical time for tail paint to be effective is during the service period. Again, tail paint identified fewer (P < 0·001) ovulations than definite signs of oestrus (0·66) and had a significantly higher false positive rate (P < 0·001). Month of calving did not affect these results but the accuracy of tail paint declined as the season progressed (P < 0·001). False positive indications were not associated with individual animal characteristics. In a second trial 43 cows were tail-painted and 43 were not. There was no significant difference in the mean number of days from calving to first insemination or successful pregnancy between the two groups. It is concluded that in these trials tail paint was not an effective or reliable aid or alternative to oestrus detection.

Jobst et al's “Detection in Life of Confirmed Alzheimer's Disease Using a Simple Measurement of Medial Temporal Lobe Atrophy by Computed Tomography”

1993 ◽  
Vol 163 (6) ◽  
pp. 809-812 ◽  
Author(s):  
Michael Philpot ◽  
Alistair Burns
Keyword(s):  
Computed Tomography ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Temporal Lobe ◽  
False Positive ◽  
Medial Temporal Lobe ◽  
Detection Rate ◽  
False Positive Rate ◽  
Minimum Width ◽  
Positive Rate

‘The medial temporal lobe of the brain is important for normal cognitive function, notably for memory, and is the region with the most extensive pathological change in Alzheimer's disease (AD). We wanted to find out if atrophy of the medial temporal lobe could be detected in life in patients in whom a diagnosis of AD was subsequently established histopathologically. The minimum width of the medial temporal lobe, measured by temporal-lobe-oriented computed tomography (CT) about one year before death, in 44 patients with a histopathological diagnosis of AD (cases) was nearly half (0.56 of the median) that in 75 controls of the same age with no clinical evidence of dementia (95% confidence interval 0.51–0.61). There was little overlap between the distributions of measurements in cases and controls. A cut-off (< 0.79 MoM) selected to yield a 5% false-positive rate gave an expected detection rate of 92%. A cut-off selected to yield a false-positive rate of 1 % (< 0.70 MoM) yielded a 79% detection rate. 20 of the 44 patients with histopathologically diagnosed AD had been scanned more than once before death, and the test (cut-off < 0.79 MoM) was positive in all 20 more than a year before and in 9/10 more than 2 years before death. In 10 subjects with dementia but with histopathology excluding AD, the mean minimum width of the medial temporal lobe was significantly greater than that in the cases with AD, but was not significantly different from that in controls. Medial temporal lobe CT is a non-invasive, rapid, simple and effective test for AD which could have immediate application firstly in improving the accuracy of prevalence and incidence studies and, secondly, for the identification of groups of high-risk patients in the evaluation of novel treatments for AD. In the future, it could be applied as a screening test.”

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