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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., (© 2022. The Author(s).)

Purpose: To perform a multicenter prospective study of ultrasound prenasal thickness (PT), and nasal bone length (NBL) measurement at 11-14 weeks' gestation., Methods: Ultrasound PT and NBL determination was performed in 504 normal fetuses and 17 fetuses with Down's syndrome (DS). Measurements were made from mid-sagittal 2D images acquired using a standardized technique during nuchal translucency (NT) examination. PT and NBL values were expressed in multiples of the gestation-specific normal median (MoM) and as the PT/NBL ratio. Information on PT and NBL MoMs was also combined using logistic regression. Results were classified as positive according to whether they were greater than the normal 95th centile for PT, PT/NBL and the DS risk from logistic regression equation or below the 5th centile for NBL., Results: The median value in DS cases and unaffected controls were: PT 1.26 and 0.996 MoM; and NBL 0.596 and 0.993 MoM. The proportion of DS fetuses with positive results was 41% for PT, 65% for NBL, and 82% for both the PT/NBL ratio and DS risk from the logistic regression equation. PT/NBL levels did not vary according to gestational age., Conclusion: The PT/NBL ratio is a valuable first trimester DS screening marker that can be easily determined concomitant with the NT measurement.

Objective: To assess the value of the prenasal thickness to nasal bone length ratio (PT/NBL) for detecting trisomy 21 (T21) after the first trimester., Method: Two examiners blinded to fetal T21 status retrospectively measured prenasal thickness (PT) and nasal bone length (NBL) of T21 and control fetuses at 15-36 weeks' gestational age on two-dimensional images from all T21-screening ultrasounds from November 2010 to April 2013. ROC curve analysis and its diagnostic values determined the best cut-off value for the ratio. Interobserver reproducibility was assessed., Results: Good quality ultrasound profile images were available for 26 fetuses with T21 compared to 91 normal fetuses. The median PT/NBL ratio was 1.28 for T21 and 0.73 for control fetuses (p<0.0001). The PT/NBL ratio performed significantly better (AUC 0.99; 95%CI 0.97-1) than either PT (0.82; 0.73-0.91) or NBL (0.91; 0.85-0.98). The optimal PT/NBL ratio cut-off was 0.98, with a sensitivity of 88.5% [76.2-100%] and a specificity of 100%. Interobserver variability was low., Conclusion: The PT/NBL ratio is a strong marker for detecting T21 in the second and third trimesters, significantly more effective than either indicator alone., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)

Objectives: To evaluate nasal bone length (NBL), prenasal thickness (PT), prenasal thickness-to-nasal bone length (PT-NBL) ratio and prefrontal space ratio (PFSR) as markers for Down syndrome in the second and third trimesters., Methods: NBL, PT, PT-NBL ratio and PFSR were measured retrospectively in stored two-dimensional images or three-dimensional volumes (corrected to the mid-sagittal plane) of fetuses with Down syndrome, which were retrieved from the digital databases of participating units. Measurements were performed on the stored images and volumes by two experienced operators, and the values obtained were compared to our previously reported normal ranges for euploid fetuses in order to assess the detection rates for Down syndrome., Results: A total of 159 fetuses with Down syndrome were included in the analysis, six of which were excluded because of inadequate available images. Median maternal age was 36.0 years and median gestational age was 23 + 1 weeks. NBL and PT were correlated with gestational age (P < 0.001), but the PT-NBL ratio and PFSR were not. Mean NBL, PT, PT-NBL ratio and PFSR were 4.42 mm, 5.56 mm, 1.26 and 0.34, respectively. The nasal bone was absent in 23 (15.4%) cases. As a marker for Down syndrome, the PT-NBL ratio yielded the highest detection rate (86.2%), followed by PFSR (79.7%), PT (63.4%) and NBL (61.9%). All markers were abnormal in 33.6% of cases, whilst all were normal in 4.7%. At least one of the four markers was abnormal in 95.3%, and either the PT-NBL ratio or PFSR was abnormal in 93.8%. Detection rates were not related to gestational age., Conclusions: The PT-NBL ratio and PFSR are robust second- and third-trimester markers for Down syndrome. Both provide high detection rates and are easy to use, as the cut-off for normality is constant throughout gestation. Ltd., (Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.)

Objective: To investigate the ratio of prenasal thickness (PT) to nasal bone length (NBL) in normal and trisomy 21 fetuses in the second and third trimester in Chinese population., Methods: The NBL and PT were measured blindly by using 3D volumes in 143 normal fetuses and 31 trisomy 21 fetuses., Results: The mean PT (r = 0.83, p = 0.004) and NBL (r = 0.87, p = 0.0062) both increased with the gestation age, while the PT/NBL ratio (r = 0.12, p > 0.10) remained stable. There was significant difference between normal and trisomy 21 fetuses (p < 0.001). If we took the 95th of the normal fetuses as the cut-off value, the detection rate was only 46%. By using ROC curve to evaluate the screening value of PT/NBL ratio, the area under receiver operating characteristic (ROC) curve was 0.88 (95% confidence interval 0.81 to 0.94, p < 0.0001)., Conclusions: In Chinese population, the PT/NBL ratio is not a very strong ultrasound marker to predict trisomy 21 fetuses. However, it can be used as an ultrasound marker for Down syndrome screening during the second and third trimester of pregnancy.

Introduction: Sonographic measurements of nasal bone length and prenasal soft tissue thickness are ultrasonographic methods for prenatal screening of Down syndrome., Aim: The aim of the authors was to create a local normogram for nasal bone length and prenasal soft tissue thickness measurements and to test the performance of different statistical methods., Method: Euploid (N = 1500) and trisomy 21 foetuses (N = 10) studied between April 2008 and December 2013 were included. Nasal bone length and prenasal thickness measurements were performed at the Medisono Fetal and Maternal Health Research Centre, Szeged, and cytogenetic tests were performed at the Department of Medical Genetics, University of Szeged, Hungary. Normograms were created with different number of patients (N = 100, 300, 500, 750. 1000 and 1500) and using 3 different statistical methods (linear regression, square-based regression, and box-plot analysis)., Results: The results indicated that at least 1000 measurements are strongly recommended for the normograms. The increase of patient number improved the efficacy of the normograms in each of the 3 statistical methods used for analysis. In general practice box-plots provides a better performance over the other screening methods. However, advanced level screening requires local linear normograms for the best screening results., Conclusion: The use of box-plots is recommended for the use in the daily practice but regression-based normograms are necessary for advanced prenatal screening.

Objective: To determine reference range of fetal nasal bone length (NBL) during the second trimester of pregnancy in a Brazilian population., Methods: This was a retrospective cross-sectional study with 2681 normal singleton pregnancies between 18 and 24 weeks of gestation. The NBL was obtained in the mid-sagittal plane of the fetal face profile using the following landmarks: nasal bone, overlying skin and the tip of the nose. The NBL was measured by placing the calipers in the out-to-out position. To assess the correlation between NBL and gestational age (GA), polynomial equations were calculated, with adjustments by coefficient of determination (R(2))., Results: The mean of NBL ranged from 5.72 ± 0.87 mm at 18-18 + 6 weeks to 7.45 ± 1.23 mm at 24-24+6 weeks of pregnancy. We observed a good correlation between NBL and GA, best represented by a linear equation: NBL = 0.080+0.276*GA (R(2 )= 0.16)., Conclusion: We established a reference range of fetal NBL in the second trimester of pregnancy in a Brazilian population.