Intravenous leiomyomatosis (IVL) is a rare entity with nonspecific presentations, often leading to diagnostic challenges. Complete surgical resection requires precise preoperative imaging to map tumor extent. This retrospective case series summarized the imaging characteristics of 19 IVL cases and 1 endometrial stromal sarcoma (ESS) initially misdiagnosed as IVL, and compared the diagnostic utility of CT, MRI, and ultrasound. Among the 19 IVL cases, 7 were stage I, 5 stage II, 3 stage III, and 4 stage IV. Nearly half (47.3%) were asymptomatic, and 11 cases (57.9%) experienced initial missed or misdiagnosis. Only 3 cases demonstrated the typical worm-like extension of uterine fibroids into the parauterine veins. Pelvic lesions were categorized as solid (9 cases), predominantly solid (7 cases), or predominantly cystic (2 cases), with the latter considered atypical. Sixteen patients underwent enhanced CT/MRI; 2 presented with multilocular cystic masses consistent with ultrasound findings, while the remaining 14 exhibited uterine or pelvic soft tissue masses with heterogeneous density and mild-to-moderate enhancement. Enhanced MRI uniquely delineates pathognomonic worm-like contours and parametrial venous filling defects. For intravascular lesions, CT venous-phase imaging most clearly defined tumor extent, with both uterine and ovarian vein involvement being most common (47.4%, 9/19). Fourteen cases (73.7%) showed solid-density intravascular lesions, while 4 (21.1%) exhibited an atypical “sieve-like” pattern. The one ESS case had imaging features resembling IVL but showed significantly elevated PET-CT metabolic activity and CA125 levels. Ultrasound combined with CT/MRI enables comprehensive IVL evaluation. We recommend analyzing both pelvic and intravascular components, with attention to atypical manifestations.
While modern segmentation models often prioritize performance over practicality, we advocate for a design philosophy that prioritizes simplicity and efficiency, and strive to design high-performance segmentation models. This paper presents SimpleUNet, a scalable, lightweight medical image segmentation framework. The key is that we proposed a simple yet effective partial feature selection mechanism for reducing information redundancy and thus facilitating compact model design. Additionally, we found that adjusting the model width is a straightforward yet easily overlooked tactic for lightweight model design, thereby preventing exponential parameter growth across network stages. By integrating an almost parameter-free channel attention module, the performance of the developed models can be improved with minimal overhead. Leveraging these techniques, our record-breaking model SimpleUNet with only 16 KB parameters surpasses LBUNet and other lightweight benchmarks across multiple public datasets. Impressively, the 0.67 MB variant achieves superior efficiency and accuracy, attaining a mean DSC/IoU of 85.76%/75.60% on a curated multi-center breast lesion dataset, surpassing both U-Net and TransUNet. Evaluations on skin lesion datasets (ISIC 2017/2018: mDice 84.86%/88.77%) and endoscopic polyp segmentation (KVASIR-SEG: 86.46%/76.48% mDice/mIoU) confirm consistent dominance over state-of-the-art models. Although our current SimpleUNet architecture does not rely on exotic or custom operators, it is fundamentally designed to embrace future innovations. The framework remains fully compatible with emerging operator-level advancements, allowing effortless integration and seamless upgrades without structural modifications. Codes can be found at https://github.com/Frankyu5666666/SimpleUNet.
In 2012, China released its first national guidelines for prenatal ultrasound screening, marking a major step toward standardized and assessable prenatal ultrasound practice nationwide. However, real-world evidence on the effectiveness of these guidelines in clinical practice remains limited, particularly from large-scale, long-term datasets. To address this gap, we aimed to examine temporal trends in the accuracy of ultrasound-based estimated fetal weight (EFW) following the guidelines’ implementation in China. This retrospective cohort study analyzed real-world data from 31,681 singleton pregnancies between 2014 and 2019, drawn from the integrated ultrasound and perinatal databases at a tertiary maternity hospital in southern China. Temporal trends in EFW accuracy, fetal biometric parameters (biparietal diameter, head circumference, abdominal circumference, femur length), and diagnostic performance for fetal growth abnormalities were analysed by calendar quarter from January 2014 to December 2019. EFW accuracy improved progressively over time, with the mean percentage error nearing zero and the proportion of estimates within 10
Recent advances in fetal neurosonography have increased interest in prenatal cortical assessment. However, the transvaginal approach, while providing superior resolution, is technically complex and limited to specialized settings. This study utilizes a transabdominal approach combining a five-axial-plane protocol and 3D Inversion Crystal Realistic Vue (3D-ICRV) rendering technique to evaluate fetal cortical development. We present high-definition ultrasound images and schematic diagrams, selected from 157 prospectively acquired volumes of 21 normal fetuses (16–36 weeks), illustrating the developmental progression of the Sylvian fissure and other primary sulci. This pictorial guide may serve as a practical, accessible reference for sonographers and fetal medicine specialists in the assessment of fetal cerebral cortex maturation.
Background Complete cryptophthalmos, congenital aphakia, and corneal vascularization are relatively uncommon congenital eye malformations during the fetal period. Herein, we report a case of a fetus with complete cryptophthalmos, congenital aphakia, and corneal vascularization in both eyes and review previous prenatal reports of related cases. Case presentation The patient was a 27-year-old pregnant woman, gravida 2, para 1, who was referred to our hospital for consultation at 23 weeks of gestation due to a diagnosis of fetal right renal agenesis at an external hospital. The ultrasound system of our hospital diagnosed the fetus with complete cryptophthalmos, congenital aphakia, and corneal vascularization, which was verified under the postnatal water basin test, anatomical and pathological sections. Conclusions Fetal ocular malformations are often associated with malformations of other organs, and if ultrasound findings are associated with such malformations, attention should be paid to the ocular examination to avoid missing the diagnosis.
Objective: This study aimed to ascertain the conus medullaris position by counting the number of ossification centers in the vertebral bodies below the conus medullaris endpoint (N) and assess its utility in screening for closed spinal dysraphism and tethered cord syndrome. Methods: A total of 900 normal fetuses and 146 fetuses with closed spinal dysraphism or tethered cord syndrome were included in this study. The N values were tallied and compared along the spinal longitudinal plane. The receiver operating characteristic curve was utilized, and the cut-off value of N was analyzed. Results: The counting of N was successfully performed in 856 normal and 146 abnormal fetuses. In the normal group, an increase in N with gestational age was observed. Specifically, in the subgroup of 17-20 wk fetuses, N was >= 6 in 117 out of 131 cases. This figure increased to 211 out of 213 in 21-24 wk and 512 out of 512 in 25 -41 wk, respectively. Cases with N >= 7 accounted for 715 out of 856 fetuses in the 17-41 wk range. In the abnormal group, N was less than 7 in 152 out of 163 fetuses, showing statistical differences between the two groups. With a cut-off value of 6.5, specificity and sensitivity reached 93.3% and 83.5%. Conclusions: The counting of N was found to be a straightforward and efficient method for evaluating the position of the conus medullaris.
BACKGROUND:Accurate segmentation of critical anatomical structures in fetal four-chamber view images is essential for the early detection of congenital heart defects. Current prenatal screening methods rely on manual measurements, which are time-consuming and prone to inter-observer variability. This study develops an AI-based model using the state-of-the-art nnU-NetV2 architecture for automatic segmentation and measurement of key anatomical structures in fetal four-chamber view images. METHODS:A dataset, consisting of 1,083 high-quality fetal four-chamber view images, was annotated with 15 critical anatomical labels and divided into training/validation (867 images) and test (216 images) sets. An AI-based model using the nnU-NetV2 architecture was trained on the annotated images and evaluated using the mean Dice coefficient (mDice) and mean intersection over union (mIoU) metrics. The model's performance in automatically computing the cardiac axis (CAx) and cardiothoracic ratio (CTR) was compared with measurements from sonographers with varying levels of experience. RESULTS:The AI-based model achieved a mDice coefficient of 87.11% and an mIoU of 77.68% for the segmentation of critical anatomical structures. The model's automated CAx and CTR measurements showed strong agreement with those of experienced sonographers, with respective intraclass correlation coefficients (ICCs) of 0.83 and 0.81. Bland-Altman analysis further confirmed the high agreement between the model and experienced sonographers. CONCLUSION:We developed an AI-based model using the nnU-NetV2 architecture for accurate segmentation and automated measurement of critical anatomical structures in fetal four-chamber view images. Our model demonstrated high segmentation accuracy and strong agreement with experienced sonographers in computing clinically relevant parameters. This approach has the potential to improve the efficiency and reliability of prenatal cardiac screening, ultimately contributing to the early detection of congenital heart defects.
Objective:To determine the variation of cerebellar fissure with gestational weeks in normal fetuses and to establish the numeric reference range for fetal cerebellar fissure at 16-32 weeks.Methods:From June 2019 to December 2020, 644 singleton fetuses with no structural abnormalities diagnosed by prenatal ultrasound were selected as study subjects at Shenzhen Maternal and Child Health Hospital, and divided into two groups: fetuses at 12-15 weeks of gestation and those at 16-32 weeks. The primary fissure and horizontal fissure in two-dimensional images were observed, the number of cerebellar fissures at 16 to 32 weeks of gestation counted, and the morphological changes analyzed. Forty fetuses were randomly sampled and tested for repeatability between two observers. The normal numeric reference range for cerebellar fissure between 16 and 32 weeks of gestation was established. The correlation between the number of cerebellar fissures and gestational age was analyzed by Spearman correlation, and fitting equations were then established.Results:There was no significant difference in the repeatability test between the two observers. The scatter plots showed that the number of cerebellar fissures were positively correlated with gestational age (r=0.863, 0.698, 0.831, and 0.932, P<0.001). Quadratic polynomial regression equations were each fitted to the models. The regression equations for the number of cerebellar fissures in three different regions and the total number of fissures were Y=0.974X-0.014X2 -12.65, Y=0.362X-0.005X2 -4.843, Y=-0.125X+0.006X2+0.285, and Y=1.800X-0.024X2 -22.904, respectively.Conclusion:Prenatal ultrasound can be used to observe and evaluate the development of fetal cerebellar fissures. The numeric reference range and morphological changes of the normal fetal cerebellar fissures may be useful for prenatal evaluation of the development of the cerebellar cortex.
Background: To deepen the understanding of COVID-19 and provide a theoretical basis for clinical diagnosis and treatment, the clinical manifestations, laboratory test findings and chest computed tomography (CT) signs of this disease and the correlations among them were explored in this study. Materials and Methods: A total of 85 patients with confirmed cases of COVID-19 were included, and their disease courses, symptoms and laboratory test results were recorded. Results: The main characteristics of COVID-19 infection were fever (56 cases), respiratory symptoms (47 cases), normal or decreased white blood cell count (84 cases), decreased lymphocyte count (43 cases), and increased C-reactive protein (CRP) level (37 cases). There was a positive correlation between fever and each of white blood cell count, lymphocyte count, and CRP level (P<0.05). Age, disease course, fever, lymphocyte count, CRP level and CT findings were statistically correlated. In the CT-positive group, the lesions were often multiple (57 cases) and peripherally distributed (53 cases). The main manifestations included ground-glass density shadows (61 cases), grid-like changes (47 cases), abnormal pleural changes (53 cases), abnormal blood vessels (52 cases) and bronchial abnormalities (40 cases). Conclusion: Mild and common COVID-19 cases have certain characteristics, clinical manifestations and laboratory parameters are correlated with CT manifestations. The comprehensive diagnosis according to clinical manifestations, laboratory and CT characteristics can minimize the missed diagnosis rate.
We aimed to evaluate the Sylvian fissure plateau by Sylvian fissure plateau angle (SFPA) in axial views at 23 -28 wk gestation.Methods: A prospective ultrasound evaluation of 180 normal and 3 abnormal singleton pregnant women was conducted at 23-28 wk gestation. All cases were assessed in three axial planes of the fetal brain (the transthalamic, transventricular and transcerebellar plane) using transabdominal 2-D images. The SFPAs of all cases were measured between the brain midline and a line drawn along the Sylvian fissure plateau. Intraclass correlation coefficients (ICCs) were used to assess the intra- and inter-observer repeatability of SFPA measurements. Results: The SFPAs in normal cases in the transthalamic, transventricular and transcerebellar planes were all above y = 0, while in abnormal cases were below y = 0. However, there was no major difference between the angles measured on the transthalamic and transventricular planes (p = 0.365). There was a major difference between the SFPAs on the transcerebellar plane and transthalamic/transventricular plane (p < 0.05). The intra- and interobserver ICCs were excellent at 0.971 (95% confidence interval [CI]: 0.945-0.984) and 0.936 (95% CI: 0.819 -0.979), respectively. Conclusion: The SFPAs of the normal cases in three axial views were stable at 23-28 wk gestation, suggesting that 0 & DEG; may be a good cut-off value for evaluating abnormal SFPA. Findings offer a potential method by which the SFPA < 0 & DEG;, as shown in three abnormal cases described herein, can be evaluated prenatally and thus serve as another tool for malformations of cortical development assessment, especially for frontoobitalopercula dysplasia. We recommend use of SFPA of the transthalamic plane to evaluate the Sylvian fissure in clinical work.
PURPOSE:To demonstrate morphological alteration of the sulci and gyri on the convex surface in normal fetuses using innovative three-dimensional inversion and Crystalvue and Realisticvue (3D-ICRV) rendering technology.MATERIALS AND METHODS:3D fetal brain volumes were collected from low-risk singleton pregnancies between 15+0 and 35+6 gestational weeks. Volumes were acquired from the transthalamic axial plane by transabdominal ultrasonography and were then post-processed with Crystalvue, Realisticvue rendering software and inversion mode. Volume quality was assessed. The anatomic definition of the sulci and gyri was determined according to location and orientation. The morphology alteration and sulcus display rates were recorded in sequential order of gestational weeks. Follow-up data were collected in all cases.RESULTS:294 of 300 fetuses (294 brain volumes) (98%) with qualified fetal brain volumes were included (n=294, median 27 gestational weeks). 6 fetuses with unsatisfactory 3D-ICRV image quality were excluded. The morphology of the sulci and gyri on the brain convex surface could be demonstrated clearly on 3D-ICRV images. The Sylvian fissure was the first structure to be recognized. From 25 to 30 weeks, other sulci and gyri became visible. An ascending trend in the display rate of the sulci was found in this period. Follow-up showed no detectable anomalies.CONCLUSION:3D-ICRV rendering technology is different from traditional 3D ultrasound. It can provide vivid and intuitive prenatal visualization of the sulci and gyri on the brain surface. Moreover, it may offer new ideas for neurodevelopment exploration.
OBJECTIVE:To investigate the effect of Erchen Decoction on iron homeostasis in mice with nonalcoholic fatty liver disease (NAFLD) and its mechanism for regulating iron transport in spleen cells.METHODS:Thirty male C57BL/6J mice were given a high-fat diet for 12 weeks and randomized (n=6) at the 7th week for gavage (3 times a week) of drinking water (NAFLD model group), Erchen Decoction at low, medium and high doses (7.5, 15, and 30g/kg, respectively), or polyene phosphatidyl choline (PPC; 9.12 mg/kg), with another 6 mice with low-fat and low-sugar feeding as the control group. The active components of Erchen Decoction were determined by HPLC-MS. Lipid accumulation in the liver was evaluated by HE staining and Nile red staining. Prussian blue staining was used to observe iron content in the spleen. The iron ion content in the liver tissue was detected using a detection kit. The expressions of ferroportin1 (Fpn1), transferrin receptor (TfR), Steap3, HO-1, Ter-119, CD163 and CD68 were detected using Western blotting, immunohistochemistry and immunofluorescence staining.RESULTS:Medium- and high-dose Erchen Decoction partially reversed the increase of lipid accumulation in the liver of NAFLD mice and showed better lipid-lowering effect than PPC. The NAFLD mice showed significantly decreased iron ion content in the spleen with increased hepatic and serum iron contents (P < 0.05), decreased TfR protein expression (P < 0.05), and increased Fpn1 and Steap3 protein expressions (P < 0.05), and these changes were significantly improved by the drug interventions. Erchen Decoction also improved the function of CD163 macrophages in the spleen of NAFLD mice by up-regulating the expression of HO-1 (P < 0.05).CONCLUSION:Erchen Decoction can alleviate high-fat diet-induced iron metabolism disorder by improving the iron ion transport ability of the spleen cells to delay the progression of NAFLD.
Objective:To assess the ultrasonographic features and potential diseases of fetal abnormal sylvian fissure(SF), and to explore the value of whole-genome sequencing (WGS) in prenatal detection.Methods:A total of 28 fetuses with a sonographic diagnosis of abnormal SF in Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University between October 2018 and October 2020 were prospectively included. The fetal brain was evaluated by neuroultrasound and intrauterine MRI in detail. Amniotic fluid/cord blood obtained by amniocentesis or tissue samples from umbilical cord after birth were collected for WGS. Pregnancy outcomes and postnatal MRI were recorded, and neurodevelopment of live-born infants was followed up for more than 24 months after delivery.Results:During the study period, 28 fetuses with abnormal SF were identified, with a gestational age of 21.3-30.0 (24.8±2.0) weeks. Abnormal SF presented in MCD ( n=15, 53.6%), chromosomal anomalies ( n=3, 10.7%) or single-gene genetic syndromes ( n=3, 10.7%) with the affected fetuses showing developmental delay, hydrocephalus or leukomalacia ( n=4, 14.2%), corpus callosal agenesis with large interhemispheric cysts ( n=1, 3.6%), benign subarachnoid space enlargement with arachnoid cysts ( n=1, 3.6%), and multiple malformations ( n=1, 3.6%). Among the 15 cases with MCD, the most common pathology was lissencephaly/pachygyria, followed by schizencephaly, severe microcephaly, hemimegalencephaly with paraventricular heterotopia, and polymicrogyria. Abnormal SF presented bilaterally in 23 fetuses and unilaterally in 5. All cases were categorized into six types depending on SF morphology in the transthalamic section: no plateau-like or a small insula, linear type, irregular corrugated SF, Z-shaped, and cyst occupying type. In addition to abnormal SF, associated anomalies or mild variations were identified in all fetuses. There were 17 cases underwent intrauterine MRI, and 13 cases underwent postnatal MRI examination.And 25 pregnancies were terminated; 3 were born alive, and 2 had typical syndromic changes with poor neurodevelopmental prognosis. A related pathogenic genetic variant was detected in 57.1% (16/28) fetus, and the incidence of single nucleotide variants(SNVs) was 42.9% (12/28), among which de novo SNVs accounted for 91.7% (11/12). Conclusions:Fetal abnormal SF could be classified based on the ultrasonographic features of transthalamic section. Fetal abnormal SF may indicate MCD, some chromosomal abnormalities or single-gene genetic syndromes that may lead to poor neurodevelopmental outcomes, and may be affected by extra-cortical factors. It is suggested to carry out targeted prenatal genetic diagnosis for fetuses with abnormal SF.
Objective:To explore the prenatal ultrasound features of fetal cerebellar cortical dysplasia.Methods:Referring to the relevant literature on cerebellar cortical dysplasia and based on its magnetic resonance imaging findings, anatomy, genetic results, and clinical prognosis, the prenatal ultrasonographic manifestations of 19 fetuses with cerebellar cortical dysplasia diagnosed by ultrasound at Department of Ultrasound, Shenzhen Maternity and Child Healthcare Hospital Affiliated to Nanfang Medical University from January 2017 to December 2020 were summarized.Results:The prenatal ultrasonogram of cerebellar cortical dysplasia was characterized by abnormal orientation of fissures, and oblique, vertical, or distorted fissures. Genetic tests were performed in 12 cases, of which 9 had positive results and 3 had negative results. Three of the 19 fetuses after birth were followed up to 17 months, 24 months, and 24 months, respectively; the head circumference of one case was larger than that of normal infants of the same age though no obvious abnormality in psychomotor development was found, one case had only fine motor deficiency, and one case had poor outcome, including global developmental delay, mental retardation, and epilepsy. Pregnancy was terminated in all the other 16 cases.Conclusion:Cerebellar cortical dysplasia can be prenatally diagnosed based on the characteristic ultrasonic features. Cerebellar cortical dysplasia rarely presents as a single finding and is commonly associated with malformations of the brain or other posterior fossa malformations, chromosomal abnormalities, and genetic syndromes. It is difficult to accurately assess the risk of poor prognosis of cerebellar cortical dysplasia.
Objective:To analyze the prenatal ultrasound characteristics of fetal harlequin ichthyosis (HI).Methods:From January 2004 to August 2020, five fetuses were prenatally diagnosed with HI at Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Zhangzhou Third Hospital, Harbin Red Cross Central Hospital, The Affiliated Hospital of Guizhou Medical University, and The People’ s Hospital of Zhijin County and were verified by genetic testing results and postpartum manifestations. The key points of prenatal ultrasound characteristics and differential diagnosis of HI were summarized and analyzed based on the literature.Results:Both facial and limb abnormalities, including eclabium and clenched fist, were found by prenatal ultrasound in all five HI fetuses (ectropion and flat nose were observed in four fetuses), and other anomalies included chapped and thickened skin (3 cases), and abnormal amniotic fluid (2 cases). The result of whole-exon sequence analysis was available in one case, indicating mutation of the ABCA12 gene. All the postpartum fetuses presented with chapped and thickened yellow skin, eclabium, ectropion, flat nose, microtia, and fixed extremities, which confirmed the prenatal ultrasound diagnosis.Conclusion:Prenatal screening and diagnosis of HI are possible based on the findings of sonographic examination. Facial and limb abnormalities are the most important characteristics.
目的 探讨应用三维水晶反转仿真成像技术(3D-ICRV)分析正常胎儿脑沟和脑回发育变化规律的方法.方法 选取2019年1月至2021年12月于南方医科大学第一临床医学院附属深圳妇幼保健院进行产前检查的正常孕周连续的单胎妊娠孕妇,连续孕周段为15~35孕周,使用经腹超声以丘脑横切面获取三维容积.采用一种全新的3D-ICRV超声技术,对胎儿大脑半球的脑沟回进行大脑表面3D-ICRV成像,选取其中能够清晰显示胎儿脑表面沟回的容积,观察并描述胎儿大脑表面脑沟脑回的发育变化规律.所有病例均进行了产后随访.结果 300例正常连续孕周的单胎胎儿纳入研究.成功获取颅脑容积及清晰的3D-ICRV图像的胎儿共294例,成功率为98%(294/300).每例胎儿选取2个最佳的颅脑容积,共计588个颅脑容积进行分析.脑沟回在3D-ICRV成像上呈现一种相对恒定的变化发育规律,在妊娠15~25周,外侧裂是第一个也是唯一能在3D-ICRV图像上被识别的结构.从26~35孕周,除大脑外侧裂发生变化外,脑表面的沟、回相继出现,并逐渐加深.其中,在26周最先出现中央沟及颞上沟,然后依次出现额上沟、顶内沟、额下沟、颞下沟等.25~30孕周是大多数脑沟回显现的主要时期,是评价皮质发育的最佳时期.结论 应用3D-ICRV成像可以显示正常胎儿脑沟回发育变化规律,了解这些变化对产前评估大脑皮层发育成熟度及进一步的临床咨询和管理具有重要意义.
Ultrasound in Obstetrics & GynecologyAccepted Articles Letter to the Editor Abnormal Sylvian fissure at 20–30 weeks as an indicator of malformations of cortical development: role for prenatal whole-genome sequencing Y. Liao, Y. Liao orcid.org/0000-0003-4073-3500 Department of Ultrasound, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China, ,518028 Contributed equally as first authorsSearch for more papers by this authorY. Yang, Y. Yang orcid.org/0000-0003-4843-1689 BGI-Shenzhen, Shenzhen, 518083 China Shenzhen Engineering Laboratory for Birth Defects Screening, Shenzhen, 518083 China Contributed equally as first authorsSearch for more papers by this authorH. Wen, Corresponding Author H. Wen whxwell@126.com Department of Ultrasound, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China, ,518028Correspondence to: S. Li. Email: lsl13530386700@126.com, H. Wen. Email:whxwell@126.comSearch for more papers by this authorB. Wang, B. Wang Department of Radiology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China, 518035Search for more papers by this authorT. Zhang, T. Zhang BGI-Shenzhen, Shenzhen, 518083 ChinaSearch for more papers by this authorS. Li, Corresponding Author S. Li lsl13530386700@126.com Department of Ultrasound, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China, ,518028Correspondence to: S. Li. Email: lsl13530386700@126.com, H. Wen. Email:whxwell@126.comSearch for more papers by this author Y. Liao, Y. Liao orcid.org/0000-0003-4073-3500 Department of Ultrasound, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China, ,518028 Contributed equally as first authorsSearch for more papers by this authorY. Yang, Y. Yang orcid.org/0000-0003-4843-1689 BGI-Shenzhen, Shenzhen, 518083 China Shenzhen Engineering Laboratory for Birth Defects Screening, Shenzhen, 518083 China Contributed equally as first authorsSearch for more papers by this authorH. Wen, Corresponding Author H. Wen whxwell@126.com Department of Ultrasound, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China, ,518028Correspondence to: S. Li. Email: lsl13530386700@126.com, H. Wen. Email:whxwell@126.comSearch for more papers by this authorB. Wang, B. Wang Department of Radiology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China, 518035Search for more papers by this authorT. Zhang, T. Zhang BGI-Shenzhen, Shenzhen, 518083 ChinaSearch for more papers by this authorS. Li, Corresponding Author S. Li lsl13530386700@126.com Department of Ultrasound, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China, ,518028Correspondence to: S. Li. Email: lsl13530386700@126.com, H. Wen. Email:whxwell@126.comSearch for more papers by this author First published: 20 September 2021 https://doi.org/10.1002/uog.24771 This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/uog.24771. AboutPDF ToolsExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Supporting Information Filename Description uog24771-sup-0001-supinfo.docxWord 2007 document , 103.8 KB Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. Accepted ArticlesAccepted, unedited articles published online and citable. The final edited and typeset version of record will appear in the future. RelatedInformation
Abstract Purpose To describe the prenatal ultrasonographic characteristics and perinatal outcomes of congenital cataract. Materials and Methods We analyzed congenital cataract diagnosed prenatally at four referral centers between August 2004 and February 2019. The diagnosis was confirmed by postnatal ophthalmologic evaluation of liveborn infants or autopsy for terminated cases. Maternal demographics, genetic testing results, prenatal ultrasound images, and perinatal outcomes were abstracted. Results Total of 41 cases of congenital cataract diagnosed prenatally among 788 751 women undergoing anatomic survey. Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 (24.4 %) had the “double ring” sign. 17/41 (41.5 %) were isolated, and 24/41 (58.5 %) had associated intraocular and extraocular findings. Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regarding potential etiology, 6 cases had a known family history of congenital cataract, 4 cases had confirmed congenital rubella infection, and 2 cases had aneuploidy. 31/41 (75.6 %) elected termination and 10/41 (24.4 %) elected to continue their pregnancy. Among the 10 cases, one case died, one case was lost to follow-up, and the remaining 8 cases were referred for ophthalmologist follow-up and postnatal surgery. Conclusion Once fetal cataracts are detected, a detailed fetal anatomy survey to rule out associated abnormalities and a workup to identify the potential etiology are recommended. Prenatal diagnosis of congenital cataracts provides vital information for counseling and subsequent management.
Objective:To assess the significance of counting the number of caudal vertebral ossification centers (OCN) below fetal terminal conus medullaris in the screening for closed spina bifida and tethered cord syndrome (TCS).Methods:The OCN was counted in 961 normal fetuses(normal group) between 17 and 41 gestational weeks and in 140 fetuses with closed spina bifida or tethered cord syndrome(abnormal group) from Jan.2013 to Dec.2020 in Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Women and Children′s Hospital, School of Medicine, Xiamen University and Maternity and Child Health Care of Guangxi Zhuang Autonomous Region. The OCN was counted in the dorsal mid-sagittal section of fetal caudal spine.The reliability and agreement test were evaluated by intraclass correlation coefficients in another 50 normal fetuses. The OCN was compared between two groups. ROC curve and the cut-off value were constructed and calculated.Results:In normal group, the N increased with the growing of gestational age.In the subgroup of 17-20 weeks, the OCN ranged from 5 to 7 in most fetuses. In the others subgroups, the OCN was equal to or greater than 6 in 99.9% cases and more than 6 in 97.1% cases. In abnormal group, OCN was less than 7 in 93.0% fetuses and less than 6 in 82.8% cases. There were statistical differences between the two groups except for the subgroup of 17-20 gestational weeks( P<0.05). With the cut-off value of 6.5, the specificity and sensitivity were 93.0% and 94.3% respectively for predicting the presence of closed spinal dysraphism or TCS. Conclusions:OCN is a simple way to evaluate the position of conus medullaris and to screen for the skin-covered spine dysraphism or TSC. OCN is more than 6 in most normal fetuses. Further evaluation of spine is required in fetuses with N less than or equal to 6.
Objective:To evaluate the clinical value of prenatal three-dimensional (3D) inversion imaging of the sylvian fissure, parietal occipital sulcus, and calcarine sulcus.Methods:The sylvian fissure, parietal occipital sulcus, and calcarine sulcus were assessed prospectively by 3D ultrasound (3D-US) inversion imaging and two-dimensional ultrasound (2D-US) in 133 fetuses with no structural abnormalities between 19 and 36+6 weeks of gestation at Shenzhen Maternity and Child Healthcare Hospital from June 2019 to July 2020. The examinations were divided into six groups according to gestational age. For each group, these sulci were assessed as absent or present. The changes of these 3D sulci imaging were observed in different groups. Thirty fetuses were randomly selected for intra- and inter-observer reproducibility testing by pearson chi-square test.Results:Along with the increase of the gestation age in different groups, the rates of 2D and 3D examinations to display the structures both became higher and higher. 2D-US and 3D-US showed 100% of sylvian fissure, parietal occipital sulcus, and calcarine sulcus at 22, 23, and 24~36 weeks, respectively. The display rate had no statistical difference between 2D-US and 3D inverted ultrasound in the six groups (P>0.05). However, 3D inversion ultrasound was more vivid and intuitive than 2D-US. No significant intra- and inter-observer variability was found.Conclusion:3D inversion imaging can be used to better observe the morphological and spatial changes of the sylvian fissure, parietal occipital sulcus, and calcarine sulcus during middle and late pregnancy, which is an intuitive supplementary means for prenatal evaluation of cerebral cortex development and provides a new idea for future teaching and research of cerebral cortex development.