Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second-trimester using chromosomal microarray analysis.

BACKGROUND: Pathogenic copy number variants (pCNVs) are associated with fetal ultrasound anomalies, which can be efficiently identified through chromosomal microarray analysis (CMA). The primary objective of the present study was to enhance understanding of the genotype-phenotype correlation in fetuses exhibiting absent or hypoplastic nasal bones using CMA. METHODS: Enrolled in the present study were 94 cases of fetuses with absent/hypoplastic nasal bone, which were divided into an isolated absent/hypoplastic nasal bone group (n = 49) and a non-isolated group (n = 45). All pregnant women enrolled in the study underwent karyotype analysis and CMA to assess chromosomal abnormalities in the fetuses. RESULTS: Karyotype analysis and CMA detection were successfully performed in all cases. The results of karyotype and CMA indicate the presence of 11 cases of chromosome aneuploidy, with trisomy 21 being the most prevalent among them. A small supernumerary marker chromosome (sSMC) detected by karyotype analysis was further interpreted as a pCNV by CMA. Additionally, CMA detection elicited three cases of pCNVs, despite normal findings in their karyotype analysis results. Among them, one case of Roche translocation was identified to be a UPD in chromosome 15 with a low proportion of trisomy 15. Further, a significant difference in the detection rate of pCNVs was observed between non-isolated and isolated absent/hypoplastic nasal bone (24.44% vs. 8.16%, p < .05). CONCLUSION: The present study enhances the utility of CMA in diagnosing the etiology of absent or hypoplastic nasal bone in fetuses. Further, isolated cases of absent or hypoplastic nasal bone strongly suggest the presence of chromosomal abnormalities, necessitating genetic evaluation through CMA.

Absent or hypoplastic nasal bone: What to tell the prospective parents?

BACKGROUND: Absent or hypoplastic nasal bone (AHNB) on first or second-trimester ultrasonography (USG) is an important soft marker of Down syndrome. However, due to its varied incidence in euploid and aneuploid fetuses, there is always a dilemma of whether to go for invasive fetal testing for isolated AHNB. This study aims to assess outcomes specifically within the context of Indian ethnicity women. MATERIALS AND METHODS: This was a prospective observational study. All patients who reported with AHNB in the first- or second-trimester USG were included. Genetic counseling was done, and noninvasive and invasive testing was offered. Chromosomal anomalies were meticulously recorded, and pregnancy was monitored. RESULTS: The incidence of AHNB in our study was 1.16% (47/4051). Out of 47 women with AHNB, the isolated condition was seen in 32 (0.78%) cases, while AHNB with structural anomalies was seen in nine cases (0.22%). Thirty-nine women opted for invasive testing. Six out of 47 had aneuploidy (12.7%), while two euploid cases (4.25%) developed nonimmune hydrops. The prevalence of Down syndrome in fetuses with AHNB was 8.5% (4/47) and 0.42% (17/4004) in fetuses with nasal bone present. This difference was statistically significant (p = .001). CONCLUSION: The results indicate that isolated AHNB cases should be followed by a comprehensive anomaly scan rather than immediately recommending invasive testing. However, invasive testing is required when AHNB is associated with other soft markers or abnormalities. As chromosomal microarray is more sensitive than standard karyotype in detecting chromosomal aberrations, it should be chosen over karyotype.

Diagnostic utility of ultrasound in pediatric nasal bone fractures: a systematic review and meta-analysis.

Ultrasonography, a radiation-free and cost-effective modality, stands out as a promising tool for evaluating nasal bone fractures. Despite limited literature on its pediatric application, there is an increasing recognition of its potential to enhance diagnostic precision. To evaluate the diagnostic efficacy of ultrasound in detecting pediatric nasal bone fractures. Employing established guidelines, a systematic review and meta-analysis were conducted through a comprehensive literature search in PubMed, Scopus, Web of Science, and Embase databases until December 5, 2023. Inclusion criteria encompassed studies reporting diagnostic accuracy measures of ultrasound in pediatric patients with nasal bone fractures. Data extraction and analysis were undertaken for the selected studies. Involving four studies with 277 patients, ultrasound demonstrated a pooled sensitivity of 66.1% (95% CI: 35.1-87.5%) and specificity of 86.8% (95% CI: 80.1-91.4%) in diagnosing pediatric nasal fractures. The area under the receiver operating characteristic curve (AUC) was 0.88 (95% CI: 0.72-0.93). After excluding an outlier study, sensitivity and specificity increased to 78.0% (95% CI: 65.6-86.9%) and 87.8 (95% CI: 78.1-93.6%), respectively, with an AUC of 0.79 (95% CI: 0.75-0.94). Pooled positive and negative likelihood ratios were 5.11 (95% CI: 2.12-9.15) and 0.40 (95% CI: 0.14-0.77) before exclusion and 6.75 (95% CI: 3.47-12.30) and 0.26 (95% CI: 0.15-0.40) after exclusion of an outlier study, respectively. This study highlighted ultrasonography's utility in diagnosing pediatric nasal bone fractures with high accuracy and specificity. However, caution is advised in relying solely on ultrasound due to suboptimal overall diagnostic performance, evident in likelihood ratios.

Comparison of the ratio of second trimester fetal biometric measurements to fetal nasal bone length in fetuses with normal karyotype and trisomy 21.

AIM: In this study, we compared the ratio of second trimester fetal biometric measurements to nasal bone length (NBL) in fetuses with normal karyotype and trisomy 21 to determine their diagnostic prognostic value. MATERIALS AND METHODS: The study included 148 pregnant women who obtained second-trimester ultrasonographic fetal anatomy and had amniocentesis (AS) for fetal karyotyping. The fetal karyotype results divided the groups into normal and trisomy 21 fetuses. Age, obstetric history, first and/or second trimester screening test risk ratios, fetal biometric measurements, and NBL mm, median (MoM) multiples, and percentile values were recorded and compared between groups. RESULTS: BPD/NBL ratios above 9.26 predict trisomy 21 in fetuses with 77.6% sensitivity and 86.1% specificity (p = 0.001). HC/NBL ratios above 34.50 predict trisomy 21 in fetuses with 77.8% sensitivity and 88.8% specificity (p = 0.001). FL/NBL ratios above 6.02 predict trisomy 21 in fetuses with 69.6% sensitivity and 72.2% specificity (p = 0.001). HL/NB ratios above 6.56 predict trisomy 21 in fetuses with 95.5% sensitivity and 47.2% specificity (p = 0.001). The NBL MoM value demonstrated a high diagnostic accuracy for normal-karyotype fetuses (p = 0.021). CONCLUSION: We found that BPD/NBL, HC/NBL, FL/NBL, and HL/NBL ratios differed between fetuses with a normal karyotype and those with trisomy 21, specifically the HC/NBL ratio, which predicted trisomy 21 with good diagnostic accuracy. In identifying normal-karyotype fetuses, the NBL MoM was highly accurate.

Utility of CT or X-ray in the management of adult nasal fracture.

PURPOSE: The primary objective of this study is to evaluate the use of imaging in the management of nasal fracture in adults and determine if imaging is beneficial to clinical decision making when planning for surgery. A secondary objective of this study is to compare surgical rates for nasal fracture between pediatric and adult populations. METHODS: This is a retrospective case-control study of 357 patients seen at University Hospitals Cleveland Medical Center from January 2015 through January 2020 with a diagnosis of nasal fracture. An odds ratio was calculated to determine likelihood of surgical intervention between patients who had imaging of the nasal bones and patients who did not. RESULTS: 82 % of patients had either CT or X-ray imaging. The odds ratio of patients who had surgery after CT or X-ray imaging compared to patients who had surgery without prior imaging was 0.092 (95 % CI: 0.0448-0.1898, p-value <0.0001). A total of 54 (15 %) adult patients had surgery, in comparison to 50 % of pediatric patients with diagnosis of nasal fracture. 202 (57 %) of patients did not follow up after initial diagnosis by radiology. CONCLUSION: The statistical analysis suggests that while CT and X-ray are frequently obtained in the setting of nasal fracture, patients without imaging are more likely to have surgery (p < 0.05) than patients with imaging. This indicates that imaging is likely unnecessary for surgical planning. Most adults do not pursue surgery, and surgical rates for adults with nasal fracture are much lower than those of pediatric patients with nasal fracture.

Ultrasound for management of pediatric nasal fractures.

BACKGROUND: Nasal bone fractures are common in children but can be challenging to diagnose accurately in the first days due to swelling and tenderness. While X-rays and computed tomography have limitations, ultrasound may be a radiation-free and cost-effective alternative for diagnosing and treating nasal fractures. METHODS: A prospective cohort study at a tertiary referral hospital between 2021-2023. Children who had sustained nasal trauma were included. A radiologist and a non-radiologist blindly reviewed ultrasound scans, and the results were compared to the physical examination performed by a senior otolaryngologist. If closed reduction was necessary, ultrasound was employed during the procedure. The primary outcome was the assessment of nasal fractures in children using ultrasound; Secondary outcomes included success rates for closed reduction and test reliability. RESULTS: Of the 50 children (mean age: 11 years, interquartile range: 6-15 years, 36 [72%] males), 22 (44%) were clinically diagnosed with a nasal fracture. Interobserver reliability for nasal fracture by ultrasound was 92%, with a Cohen's kappa coefficient of k=0.91. The sensitivity and specificity of ultrasound in detecting nasal fractures were 90% and 89%, respectively, with positive and negative predictive values of 86% and 93%, respectively. Closed reduction was performed on 18 children, with (n=11) or without (n=7) ultrasound, with the former showing better alignment results (82% vs. 71%). CONCLUSIONS: Ultrasound has a high negative predictive value in identifying nasal fractures in children with swollen noses during presentation. This enables to avoid further unnecessary referrals and interventions. Ultrasound-guided closed reduction of nasal fractures demonstrates improved outcomes; however, further large-scale randomized studies are required to validate our findings.

Analysis of Nasal Bone Fractures: A 17-year Study of 3785 Patients.

In our previous study, we classified nasal bone fractures into 6 types based on computed tomography and the patterns of the nasal bone fractures (NBF) in 503 patients treated between 1998 and 2004. In the present study, we analyzed 3785 patients treated between 2005 and 2021. The age, sex, etiology, associated injuries, pattern of fractures, and treatments were reviewed, and radiographic studies were analyzed. The highest incidence was in the age group of 10 to 19 years (N=870, 23.0%), followed by 20 to 29 years (N=792, 20.9%) and 30 to 39 years (N=635, 16.8%). The most common causes of injury were slip or fall-down (42.3%), violence (24.3%), sports (19.2%), traffic accidents (8.9%), and work-related (5.3%). Most of the patients had tenderness (96.1%) and swelling (78.8%). Other findings were depression (27.1%) and nasal deviation (25.8%). Crepitus was heard in only 0.4% of the patients. The patterns of the NBFs classified by computed tomography findings were type IIA (unilateral simple fracture with displacement/without telescoping, 1283 cases, 33.9%), IIB (bilateral simple fracture with displacement/without telescoping, 786 cases, 20.8%), IIAs (unilateral simple fracture with septal fracture and displacement/without telescoping, 566 cases, 14.9%), IIBs (bilateral simple fracture with septal fracture and displacement/without telescoping 530 cases, 14.0%), I (simple fracture without displacement, 522 cases, 13.8%), and III (comminuted with telescoping or depression, 98 cases, 2.6%). In most of the cases (3,666, 96.9%), closed reduction was performed. The present analysis is one of the largest data sets on NBF in Korea, which could provide reference values for diagnosing and managing nasal bone fractures.

Flipped Nasal Bone Fracture: Peculiar Fracture Pattern in a Pediatric Patient.

Fractures to the facial bone in the pediatric population often show a different fracture pattern from that of the adult population. In this brief report, the authors share their experience with a nasal bone fracture in a 12-year-old child showing a bizarre fracture pattern, an inside-out displacement of the nasal bone. The authors share the detailed findings of this fracture and describe the method for reducing the fracture back to the proper position.

Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome.

OBJECTIVE: Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity. METHODS: A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone. Repeat evaluations were offered. RESULTS: Of 6780 FTS sonograms, 589 (8.7%) had an absent/uncertain nasal bone. Upon repeat exam, 268/376 (71.3%) had a present nasal bone. Compared with Black patients, patients of other ethnicities were more likely to have a present nasal bone on exam 2 (P < .00001). Of 268 patients with a present nasal bone on exam 2, 37 (13.8%) had an abnormal DS risk following exam 1; 34/37 (91.9%) normalized following nasal bone visualization, dropping the screen positive rate to 1.1%. CONCLUSION: Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.

The effect of a new topographic classification on determining the prognosis of nasal fracture and treatment modality.

BACKGROUND: Classifications of nasal fracture are based on clinical findings or radiological findings. The classification systems of nasal fracture usually determine the type of nasal fracture. It is important that a classification gives information about treatment modality and prognosis rather than determining the type of fracture. The objective of this study was to show the effect of the new topographic classification on determining the parameters of prognosis and deciding on treatment modality of the nasal fracture. METHODS: We reviewed patients with nasal fracture that was referred from emergency department between December 2018 and September 2020. The views of lateral nasal radiography, the facial view of computed tomography (CT), and/or the views of three-dimensional CT were examined to analyze 120 patients with nasal bone fractures. The length of the nasal bone from the top to the base was divided into equal three levels by two lines perpendicular to the length of the nose. The location of fracture was determined as level I, II, and III, respectively, from caudal part to cranial part of the nasal bone. The demographic features of patients, the side of the fracture, the pattern of fracture, accompanying fractures, and the treatment modality were noted. RESULTS: The frequencies of location of nasal fractures were 44%, 28%, and 27% at level I, level II, and level III, respectively, in 120 cases. It was an expected result that the frequency of fractures was low in parts with the thick bone. Considering the rates of being bilateral or unilateral, it was found that the frequency of unilateral was higher in group of level I, where the thickness of nasal bone was thin, but it was less in group of level III (p<0.05). Non-depressed/minimal-depressed pattern of fracture in group of level I accounted for 92.6% which was the highest frequency (p<0.05). Depressed/elevated fracture patterns were more common in group of level II (p<0.05). Comminuted pattern was mostly observed in group of level III. The rate of accompanying fractures and the applied treatment modality was consistent with anatomic feature of fracture's level. CONCLUSION: We believe that the new topographic classification evaluates the parameters of clinical prognosis such as accompanying fracture, site of fracture and pattern of fracture, and also requirement of closed or open reduction better than other classifications.

An Anatomic Analysis of the Bony Vault: From the Perspective of Osteotomy in Rhinoplasty.

BACKGROUND: Osteotomy is one of the most traumatic but critical procedures in rhinoplasty. A detailed preoperative analysis of the bony vault is essential to performing a successful osteotomy. OBJECTIVES: This study aimed to analyze bone thickness along the osteotomy path in primary rhinoplasty patients. METHODS: Preoperative 3-dimensional facial bone computed tomography images of 250 patients who underwent primary rhinoplasty were analyzed, and their bony vaults categorized based on symmetry. The bone thickness was measured at 3 points along the lateral and at 2 points along the medial and intermediate osteotomy paths. RESULTS: Of the 250 patients analyzed, 88 (35.2%) had asymmetric and 162 (64.8%) had symmetric bony vaults. The mean thickness of the bony vault was thickest at the middle level of the lateral osteotomy path, and the bony vault was thicker in male patients at all points of medial and lateral osteotomies. Furthermore, in the asymmetric bony vault, the deviated side was thicker than the contralateral side along all osteotomy paths. In particular, the deviated side was thicker, and the contralateral side was thinner, in the asymmetric bony vault than in the symmetric bony vault at the middle level of the lateral osteotomy path. CONCLUSIONS: The thickness of the bony vault differs according to osteotomy path and gender. The lateral osteotomy, especially at the midpoint of the deviated side in male patients, is crucial in achieving a more controlled fracture.

Precisely Closed Reduction of Nasal Bone Fracture Assisted With Plain Film Measurements Under the Picture Archiving and Communication System.

OBJECTIVES: To prevent aesthetic and functional deformities, precisely closed reduction is crucial in the management of nasal fractures. Plain film radiography (PF), ultrasonography (USG), and computed tomography can help confirm the diagnosis and classification of fractures and assist in performing closed reduction. However, no study in the literature reports on precisely closed reduction assisted with PF measurements under the picture archiving and communication system (PACS). METHODS: We retrospectively evaluated 153 patients with nasal bone fracture between January 2013 and December 2017. Surgeons conducted precisely closed reduction assisted with PF measurement of the distance between the fracture site and nasal tip under PACS on 34 patients (group A). Another group on 119 patients were reduced under surgeon's experience (group B). RESULTS: No significant differences in age, gender, Arbeitsgemeinschaft fur Osteosynthesefragen (AO) classification, and reduction outcome were observed between group A and group B (P > .05). The operative time of the group A was significantly lower (12.50 ± 4.64 minutes) compared to group B (23.78 ± 11.20 minutes; P < .001). After adjusted age, gender, and AO classification, patients in group A scored 10.46 minutes less on the operative time than those in group B (P < .001). In addition, the severity of nasal bone fracture (AO classification, ß = 3.37, P = .002) was positive associated with the operative time. CONCLUSIONS: In this study, closed reduction in nasal bone fracture assisted with PF measurements under PACS was performed precisely, thereby effectively decreasing operative time and the occurrence of complications. This procedure requires neither the use of new instruments or C-arm nor USG or navigation experience. Moreover, reduction can be easily performed using this method, and it requires short operative time, helps achieve great reduction, less radiation exposures, and is cost-effective.

Assessing the value of second-trimester nasal bone hypoplasia in predicting chromosomal abnormalities: a retrospective chromosomal microarray analysis of 351 fetuses.

PURPOSE: To evaluate the value of fetal nasal bone hypoplasia and other prenatal risk factors in predicting chromosomal abnormalities. METHODS: In this retrospective cohort study, we collected data on singleton pregnancies diagnosed with fetal nasal bone hypoplasia during second-trimester ultrasound. Fetal karyotyping and chromosomal microarray analysis (CMA) were performed, and pregnancy outcomes were assessed. The association between fetal nasal bone hypoplasia and chromosomal abnormalities was evaluated according to whether other prenatal risk factors were observed. RESULTS: Our final analysis included 351 pregnancies, of which 62 (17.7%) fetuses had chromosomal abnormalities, including 36 cases of trisomy-21, six cases of trisomy-18, one case each of trisomy-13, and 47, XYY syndrome, and 18 cases of copy number variations (CNVs). Among the 243 cases of isolated nasal bone hypoplasia, 28 (11.5%) cases of chromosomal aberrations were identified. The incidence was significantly higher if other soft markers or structural abnormalities were simultaneously detected. Pregnancy was terminated in 43 aneuploid fetuses and nine fetuses detected with CNVs. The parents of the fetuses diagnosed with 47, XYY syndrome and the other nine CNVs chose to continue the pregnancy, and no abnormalities were detected in the newborns. Furthermore, we found that other prenatal risk factors should be considered in evaluating the likelihood of chromosomal abnormalities in fetuses with nasal bone hypoplasia. CONCLUSIONS: Nasal bone hypoplasia is a highly specific soft marker that is associated with multiple chromosomal abnormalities. The risk of chromosomal abnormalities increases when combined with structural abnormalities or increased nuchal translucency (NT). Chromosomal microarray analysis is a powerful prenatal test for chromosomal abnormalities, which may be warranted in fetuses with nasal bone hypoplasia.

Efficacy of X-ray in the diagnosis of pediatric nasal fracture.

OBJECTIVE: Nasal fracture is one of the most common pediatric fractures, and diagnosis can be made with clinical findings or with radiographic imaging. The objective of this study is to determine the extent of x-ray utilization in decision-making regarding closed reduction of pediatric nasal fracture. METHODS: This a case-control study of 117 patients ages 0-18 with a diagnosis of nasal fracture seen at University Hospitals Cleveland Medical Center between January 2015 and January 2020. The exposure group had x-ray imaging of the nasal bones, and the control group had no x-ray imaging. RESULTS: A total of 59 (50.4%) patients had surgical intervention. The odds ratio to compare x-ray utilization to the control group for patients who underwent closed reduction surgery was .3951 (95% CI: 0.1848-0.8448, p-value = .0166). CONCLUSION: The statistical analysis suggests that x-ray use is associated with decreased rates of closed reduction surgery. It is likely that while not necessary for the diagnosis of nasal fracture, x-ray serves as an additional data point for diagnosis confirmation, and may reduce the rate of unnecessary surgery for false positive cases of nasal fracture.

Aging of the Nose: A Quantitative Analysis of Nasal Soft Tissue and Bone on Computed Tomography.

BACKGROUND: Morphologic and anatomical changes of the aging nose affect the surgical strategy of rhinoplasty in older patients, but age-related changes in noses have yet to be fully characterized. This study aimed to determine the evolution of nasal soft tissue and bone in aging noses using computed tomography. METHODS: Computed tomographic images of 200 Asian patients were included. The study population was divided into two groups according to age and sex: a younger group (20 to 35 years of age) and an older group (65 to 80 years of age). Measurements of nasal soft tissue and bone on computed tomography were performed using Osirix 9.0 software. RESULTS: With regard to soft-tissue changes, the nasal skin and soft-tissue envelope thickness at rhinion, supratip, and nasal tip increased significantly with aging in both sexes. Increase of nasal depth and decrease of nasolabial angle were significant in both sexes. Nasal length and nasofrontal angle showed significant age-related increases in men; decrease of nasal tip angle and increase of pyramidal angle were significant in women. With regard to nasal bone changes, the bone length decreased significantly in women and the bone thickness decreased significantly in both sexes. Nasofrontal angle in men and pyramidal angle in women increased significantly. CONCLUSION: These results suggest that the aging process leads to drooping of the nasal tip, thickened nasal skin and soft tissue, and resorption of the nasal bone, providing a reference for rhinoplasty in older patients.

Factors related to successful closed nasal bone reduction: a longitudinal cohort study.

Fracture of the nasal bone is the most common facial fracture because the nose is the most protruding part of the facial skeleton. Standard treatment is nasal reduction, which may cause patients significant pain and stress. Closed nasal reduction may be unsuccessful because of old fractures, despite physical examination being compatible with a new fracture. This study aimed to investigate factors influencing the success of closed nasal reduction. A total of 80 patients with isolated nasal bone fractures who opted for closed reduction under local anaesthesia were included. Demographic features, days from trauma, and findings of physical examination and lateral nasal X-rays were assessed. Significant nasal bone movement with significant improvement in the deformity was considered a successful reduction. An absence of, or minimal, nasal bone movement was considered unsuccessful. The mean (SD) age of the patients was 28.4 (11.5) the youngest being 15. A total of 56 patients had successful nasal reduction. Younger age (p = 0.021), absence of periorbital ecchymosis (p = 0.042), and no fracture line on lateral nasal X-ray (p = 0.000), were associated with unsuccessful reduction. Although lateral nasal X-ray is not considered a good instrument for diagnosis of a nasal fracture, this study has shown that the absence of a fracture line on a lateral nasal X-ray can be a predictor for unsuccessful reduction in patients older than 15 years.

Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone.

OBJECTIVES: To evaluate the efficiency of chromosomal microarray analysis (CMA) in the prenatal diagnosis of foetuses with isolated absent or hypoplastic nasal bone (NB) in the first and second trimester. METHODS: From January 2015 to April 2021, foetuses with isolated absent or hypoplastic NB who received invasive prenatal diagnosis were enrolled. The results of CMA were analysed. RESULTS: There were 221 foetuses, including 166 cases with isolated absent NB and 55 cases with isolated hypoplastic NB. Twenty-four foetuses (10.9%, 24/221) had an ultrasonic diagnosis in the first trimester and 197 (89.1%, 197/221) had a ultrasonic diagnosis in the second trimester. The overall diagnostic yield of CMA was 9.0% (20/221). Aneuploidies were detected in 13 (5.9%, 13/221) foetuses, including 10 Down syndrome, 2 Klinefelter's syndrome and 1 trisomy 18. Pathogenic copy number variations (CNVs) were detected in seven foetuses (3.2%, 7/221). In addition, variants of unknown significance (VOUS) were detected in four foetuses. The foetuses with isolated absent NB had a higher detection rate of chromosome abnormality than the isolated hypoplastic NB, but the difference was not significant in the statistical analysis (10.2% vs. 5.5%, χ2 =0.642, p = .423). No significant difference was observed in the detection rate between the first trimester and the second trimester (16.6% vs. 8.1%, χ2 = 1.002, p = .317, Chi-square test). CONCLUSION: CMA can increase the diagnostic yield of chromosome abnormality, especially pathogenic CNVs for foetuses with isolated absent or hypoplastic NB. CMA should be recommended when isolated absent or hypoplastic NB is suspected antenatally.7.

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

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.

Shape Prediction of Nasal Bones by Digital 2D-Photogrammetry of the Nose Based on Convolution and Back-Propagation Neural Network.

In rhinoplasty, it is necessary to consider the correlation between the anthropometric indicators of the nasal bone, so that it prevents surgical complications and enhances the patient's satisfaction. The penetrating form of high-energy electromagnetic radiation is highly impacted on human health, which has often raised concerns of alternative method for facial analysis. The critical stage to assess nasal morphology is the nasal analysis on its anthropology that is highly reliant on the understanding of the structural features of the nasal radix. For example, the shape and size of nasal bone features, skin thickness, and also body factors aggregated from different facial anthropology values. In medical diagnosis, however, the morphology of the nasal bone is determined manually and significantly relies on the clinician's expertise. Furthermore, the evaluation anthropological keypoint of the nasal bone is nonrepeatable and laborious, also finding widely differ and intralaboratory variability in the results because of facial soft tissue and equipment defects. In order to overcome these problems, we propose specialized convolutional neural network (CNN) architecture to accurately predict nasal measurement based on digital 2D photogrammetry. To boost performance and efficacy, it is deliberately constructed with many layers and different filter sizes, with less filters and optimizing parameters. Through its result, the back-propagation neural network (BPNN) indicated the correlation between differences in human body factors mentioned are height, weight known as body mass index (BMI), age, gender, and the nasal bone dimension of the participant. With full of parameters could the nasal morphology be diagnostic continuously. The model's performance is evaluated on various newest architecture models such as DenseNet, ConvNet, Inception, VGG, and MobileNet. Experiments were directly conducted on different facials. The results show the proposed architecture worked well in terms of nasal properties achieved which utilize four statistical criteria named mean average precision (mAP), mean absolute error (MAE), R-square (R 2), and T-test analyzed. Data has also shown that the nasal shape of Southeast Asians, especially Vietnamese, could be divided into different types in two perspective views. From cadavers for bony datasets, nasal bones can be classified into 2 morphological types in the lateral view which "V" shape was presented by 78.8% and the remains were "S" shape evaluated based on Lazovic (2015). With 2 angular dimension averages are 136.41 ± 7.99 and 104.25 ± 5.95 represented by the nasofrontal angle (g-n-prn) and the nasomental angle (n-prn-sn), respectively. For frontal view, classified by Hwang, Tae-Sun, et al. (2005), nasal morphology of Vietnamese participants could be divided into three types: type A was present in 57.6% and type B was present in 30.3% of the noses. In particular, types C, D, and E were not a common form of Vietnamese which includes the remaining number of participants. In conclusion, the proposed model performed the potential hybrid of CNN and BPNN with its application to give expected accuracy in terms of keypoint localization and nasal morphology regression. Nasal analysis can replace MRI imaging diagnostics that are reflected by the risk to human body.