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INTRODUCTION: We aim to determine the fetal nasal bone length (NBL) percentile values that can be used in the prediction of the fetal anomaly at 11-14 weeks of gestation in a low-risk population. METHODS: Our prospective and cross-sectional study included four hundred and eighty-six singleton pregnancies who applied for the first-trimester aneuploidy screening test at 11-14 weeks of gestation. We excluded pregnant women with fetal structural or chromosomal anomaly, nuchal translucency >3mm, an absent nasal bone, and in utero fetal death. Reference and percentile values of the NBL were calculated separately for 11,12,13,and 14. gestational weeks. RESULTS: Standard NBL measurements were performed in 486 pregnancies according to inclusion and exclusion criteria. Median NBL values were computed for each gestational age (GA), for 11,12,13 and 14. weeks of gestation was found 1.6mm (range=1.1-2.5), 1.8mm (range=1.1-3.0), 2.0mm (range=1.4-3.1), and 2.2mm (range=1.7-2.8), respectively. A positive significant correlation was found between NBL and the crown-rump length (CRL) (NBL (mm) = [0.02xCRL(mm)] + 0.73, r=.483; p

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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.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objectives To evaluate nasal bone length (NBL), maxilla-nasion-mandible (MNM) angle, fetal profile (FP) line, prenasal thickness (PT), prenasal thickness to nasal bone length (PT:NBL) ratio and prefrontal space ratio (PFSR) as markers of trisomy 18 in the second and third trimesters of pregnancy. Methods The NBL, MNM angle, FP line, PT, PT:NBL ratio and PFSR were measured retrospectively from stored two-dimensional images or three-dimensional volumes of trisomy-18 fetuses, and were compared with our previously reported normal ranges for euploid fetuses. Additional ultrasound findings were noted at initial routine second-trimester scan and at subsequent advanced ultrasound examination performed after referral for karyotyping. Results A total of 43 trisomy-18 fetuses were included in the analysis. At initial examination, median gestational age was 21+2weeks. NBL and PT were correlated with gestational age (P<0.001), but the other markers were not. Mean NBL, MNM angle, PT, PT:NBL ratio and PFSR were 3.76 mm, 16.67°, 4.25 mm, 1.39 and 0.87, respectively. The FP line was zero (normal) in 53.7% of cases and negative (abnormal) in 46.3%. All markers were significantly associated with trisomy 18, with the PT:NBL ratio yielding the highest detection rate (88.4%) followed by NBL (83.7%), MNM angle (56.4%), FP line (46.3%), PT (27.9%) and the PFSR (20.5%) (for a 5% false-positive rate for the continuous variables). Various combinations of the four best markers (NBL, FP line, MNM angle and PT:NBL ratio) yielded detection rates of between 72% and 95%. Structural anomalies were not detected in 22% of fetuses at the initial scan and in 2% at the advanced scan. Conclusions The PT:NBL ratio and NBL are robust second- and third-trimester markers for trisomy 18. A negative FP line has a 0% false-positive rate and the potential to differentiate between trisomy 18 and Down syndrome, as in the latter the FP line is often positive. No major anomaly was observed at the initial scan in about a quarter of trisomy-18 fetuses, underlining the role of second-trimester facial marker evaluation. [ABSTRACT FROM AUTHOR]

ABSTRACT 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. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives To assess the feasibility of nasal bone length (NBL), prenasal thickness (PT) and frontomaxillary facial (FMF) angle measurements performed on the same three-dimensional (3D) multiplanar-corrected profile view in healthy second- and third-trimester fetuses, to create reference ranges and to review published measurement techniques. Methods 3D volumes of 219 healthy second- and third-trimester fetuses were retrospectively analyzed. The quality of images and measurability of the markers were assessed with 5-point and 3-point scoring systems, respectively. Measurements of NBL (with care to exclude the frontal bone), PT and FMF were obtained in the exact mid-sagittal plane. Reference ranges were constructed based on measurements from images with high-quality (4 or 5 points) and high measurability (2 or 3 points) scores and compared with those in the most relevant published literature. Results A high-quality score was assigned to 111 images. Among these, a high measurability score was significantly more often achieved for NBL (98.2%) and PT (97.3%) than for the FMF angle (26.1%) ( P < 0.001). Both NBL (NBL = − 6.927 + (0.83 × GA) − (0.01 × GA 2)) and PT (PT = (0.212 × GA) − 0.873) (where GA = gestational age) showed growth with gestation, with less pronounced growth for NBL after 28 weeks. Our reference range for the NBL showed a systematically smaller length than those in other two-dimensional (2D) ultrasound-based publications. The FMF angle measurements that we obtained did not show a significant change with GA. Conclusions NBL and PT are easily measured using 3D ultrasound whereas FMF angle measurement is more challenging. When it is measured in the exact mid-sagittal plane and care is taken to exclude the frontal bone, measurements of the NBL are systematically smaller than those in previous 2D ultrasound-based publications. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]