scholarly journals EP04.02: Ultrasound reference ranges for fetal prenasal thickness and its role as screening test for chromosomal abnormalities at 16–25 weeks of gestation

2019 ◽  
Vol 54 (S1) ◽  
pp. 248-248
Author(s):  
M. Parra‐Cordero ◽  
A. Sepúlveda‐Martínez ◽  
P. Socias ◽  
H. Muñoz ◽  
G.I. Rencoret ◽  
...  
Keyword(s):  
Screening Test ◽  
Chromosomal Abnormalities ◽  
Reference Ranges

scholarly journals Evaluation of the Non-HDL Cholesterol to Apolipoprotein B Ratio as a Screening Test for Dysbetalipoproteinemia

2019 ◽  
Vol 65 (2) ◽  
pp. 313-320 ◽  
Author(s):  
Christopher S Boot ◽  
Elizabeth Middling ◽  
Joy Allen ◽  
Robert D G Neely
Keyword(s):  
Total Cholesterol ◽  
Screening Test ◽  
Hdl Cholesterol ◽  
Diagnostic Sensitivity ◽  
Screening Tests ◽  
Reference Ranges ◽  
Apo B ◽  
Premature Cardiovascular Disease ◽  
Significant Difference ◽  
Improved Performance

Abstract BACKGROUND Familial dysbetalipoproteinemia is associated with the accumulation of remnant lipoproteins and premature cardiovascular disease. Identification of dysbetalipoproteinemia is important because family members may be affected. Diagnostic testing involves demonstration of β-lipoprotein in the VLDL fraction or characterization of apo E3. These investigations are complex and relatively expensive. The ratios of apo B to total cholesterol and triglycerides have been proposed as screening tests. However, the ratio of non-HDL cholesterol to apo B (NHDLC/apoB) could offer improved performance as the confounding effect of variations in HDL cholesterol is removed. METHODS We evaluated NHDLC/apoB as a screening test for dysbetalipoproteinemia, using β-quantification analysis as a reference standard. Data from 1637 patients referred over a 16-year period for β quantification were reviewed retrospectively. In 63 patients, diagnostic criteria for dysbetalipoproteinemia (VLDL cholesterol/triglyceride ratio ≥0.69 and presence of β-VLDL) were fulfilled, and 1574 patients had dysbetalipoproteinemia excluded. RESULTS Mean NHDLC/apoB in patients with dysbetalipoproteinemia was 7.3 mmol/g (SD, 1.5 mmol/g) and with dysbetalipoproteinemia excluded was 4.0 mmol/g (SD, 0.5 mmol/g). The optimum cutoff of >4.91 mmol/g achieved a diagnostic sensitivity of 96.8% (95% CI, 89.0–99.6) and specificity of 95.0% (95% CI, 93.8–96.0). NHDLC/apoB offered improved performance compared to total cholesterol/apoB [diagnostic sensitivity 92.1% (95% CI, 82.4–97.4) and specificity 94.5% (95% CI, 93.2–95.6) with a cutoff of >6.55 mmol/g]. NHDL/apoB reference ranges were not sex-dependent, although there was a significant difference between men and women for total cholesterol/apoB. CONCLUSIONS NHDLC/apoB offers a simple first-line test for dysbetalipoproteinemia in selecting patients with mixed hyperlipidemia for more complex investigations.

Spectrum of M-Mode Echocardiographic Abnormalities in 75 Cats With Systemic Hypertension

2004 ◽  
Vol 40 (5) ◽  
pp. 359-363 ◽  
Author(s):  
Rosemary A. Henik ◽  
Rebecca L. Stepien ◽  
Hattie B. Bortnowski
Keyword(s):  
Retrospective Study ◽  
Screening Test ◽  
Interventricular Septum ◽  
Posterior Wall ◽  
Left Ventricular ◽  
Systemic Hypertension ◽  
Reference Ranges ◽  
Marked Variability ◽  
Fractional Shortening ◽  
Echocardiographic Findings

A retrospective study was performed in 75 hypertensive cats to determine the spectrum and frequency of M-mode echocardiographic abnormalities. Results indicated that 21.3% of the cats had M-mode measurements within normal reference ranges. For cats with echocardiographic abnormalities, changes were variable. Thirty-nine percent of hypertensive cats had hypertrophy of the interventricular septum in diastole, and 41.3% had hypertrophy of the left ventricular (LV) posterior wall in diastole. One cat in five had a dilated left atrium, while fractional shortening and LV internal dimension in diastole were normal in 82.7% and 86.7% of the cats, respectively. The marked variability of echocardiographic findings in hypertensive cats made echocardiography an unreliable screening test for hypertension.

Fetal intracranial translucency and cisterna magna at 11 to 14 weeks: reference ranges and correlation with chromosomal abnormalities

2011 ◽  
Vol 31 (12) ◽  
pp. 1189-1192 ◽  
Author(s):  
I. Papastefanou ◽  
A. P. Souka ◽  
A. Pilalis ◽  
P. Panagopoulos ◽  
D. Kassanos
Keyword(s):  
Chromosomal Abnormalities ◽  
Reference Ranges ◽  
Cisterna Magna ◽  
Intracranial Translucency

New application methods for chromosomal abnormalities screening test using digital PCR

2015 ◽  
Vol 9 (4) ◽  
pp. 339-352 ◽  
Author(s):  
Seung Yong Lee ◽  
Sung Han Shim ◽  
Jong-Pil Youn ◽  
Seung Jun Kim ◽  
Ji Hoon Kim ◽  
...  
Keyword(s):  
Screening Test ◽  
Chromosomal Abnormalities ◽  
Digital Pcr ◽  
Application Methods

scholarly journals Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Savitree Pranpanus ◽  
Kanokkarn Keatkongkaew ◽  
Manaphat Suksai
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Intraclass Correlation ◽  
Nasal Bone ◽  
Reference Ranges ◽  
Second Trimester ◽  
2D Ultrasound ◽  
Down Syndrome Screening

Abstract Background To establish the reference ranges and evaluate the efficacy of the fetal facial sonomarkers prenasal thickness (PT), nasal bone length (NBL), PT/NBL ratio and NBL/PT ratio for Down syndrome screening in the second trimester of high-risk pregnancies using two-dimensional (2D) ultrasound. Methods A prospective study was done in Thai pregnant women at high risk for structural and chromosomal abnormalities between May 2018 and May 2019. The main exclusion criteria were any fetal anatomical anomaly detected on ultrasonography or postpartum examination, abnormal chromosome or syndrome other than Down syndrome. Ultrasounds were performed in 375 pregnant women at 14 to 22 weeks’ gestation and the fetal facial parameters were analyzed. Down syndrome results were confirmed by karyotyping. The reference ranges of these facial ultrasound markers were constructed based on the data of our population. The Down syndrome screening performance using these facial ultrasound markers was evaluated. Results In total, 340 euploid fetuses and 11 fetuses with Down syndrome met the inclusion criteria. The PT, NBL, and PT/NBL ratios in the euploid fetuses gradually increased with gestation progression while the NBL/PT ratio gradually decreased between 14–22 weeks’ gestation. The NBL, PT/NBL ratio, and NBL/PT ratio all had 100% sensitivity and PT had 91% sensitivity. These facial markers had 100% negative predictive value for Down syndrome screening in the second trimester. The Bland–Altman analysis showed the intra- and inter-observer variations of PT and NBL had high intraclass correlation coefficients (ICC) in both operators, with ICCs of 0.98 and 0.99 and inter-observer ICCs of 0.99 for both operators. Conclusion The facial ultrasound markers are very useful for second trimester Down syndrome screening in our population. These facial ultrasound markers were easily identifiable and highly consistent either intra- or inter-operator by using widely-available 2D ultrasound. However, the reference ranges for these markers need to be constructed based on individual populations. Trial registration Registration number: REC 61–029-12–3. Date of registration: 18 May 2018.

Does the Multiple Marker Screening Test Identify Chromosomal Abnormalities in the First Trimester?

1995 ◽  
Vol 4 (6) ◽  
pp. 272-276
Author(s):  
Cynthia G. Brumfield ◽  
Katharine Wenstrom ◽  
Mary DuBard ◽  
Richard O. Davis ◽  
Larry Boots ◽  
...  
Keyword(s):  
Screening Test ◽  
Chromosomal Abnormalities ◽  
First Trimester
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