Predicting the risk of subsequent miscarriage during the first trimester is crucial for optimizing ultrasound surveillance and alleviating psychological distress for pregnant women. This study aims to develop a multi-input convolutional neural network (CNN) that integrates early gestational ultrasound images with clinical measurements to assess miscarriage risk, while providing interpretable visual explanations to support clinical decision-making. Utilizing a retrospective dataset of singleton pregnancies at 6-8 weeks of gestation, we extracted gestational sac regions through three distinct segmentation strategies and trained a CNN-based classifier to differentiate between normal and miscarriage outcomes. The predictive performance was evaluated using accuracy, precision, recall, f1-score, and the area under the receiver operating characteristic curve (AUC). The results indicated that the multi-input CNN outperformed single-input models. Additionally, an edge-expanded segmentation strategy demonstrated superior performance compared to both precise segmentation and rectangular cropping. By incorporating Gradient-weighted Class Activation Mapping (Grad-CAM) and SHapley Additive exPlanations (SHAP), we identified subchorionic regions as significant biomarkers and clarified the differences in attention to features among different models, thereby enhancing the interpretability and clinical applicability of the model for early pregnancy risk assessment.

Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common congenital malformation influenced by a combination of environmental and genetic factors. nsCL/P is usually diagnosed using fetal ultrasound during the late second trimester; however, these results are often affected by factors such as instruments, fetal position, and maternal obesity. Moreover, by this time, structural anomalies in the fetuses are already formed and missed optimal time for intervention. Therefore, identifying more efficient and non-invasive biomarkers before fetal ultrasound is essential. In recent years, rapidly evolving omics technologies, including genomics, transcriptomics, proteomics, lipidomics, epigenomics, and single-cell omics, have been used to identify several nsCL/P-associated risk genes. Additionally, omics technologies have proven invaluable for investigating non-invasive biomarkers for prenatal diagnosis of nsCL/P. Therefore, this article reviews the current applications of multi-omics technologies in nsCL/P research, focusing on their use to identify pathogenic genes and the research advances in prenatal diagnosis. We highlighted the technological landscape and applications of multi-omics in nsCL/P, and explored the potential opportunities and challenges for future clinical practice.

Biliary atresia (BA) is a rare and severe congenital disorder with a significant challenge for prenatal diagnosis. This study, registered at the Chinese Clinical Trial Registry (ChiCTR2200059705), aimed to develop an intelligent model to aid in the prenatal diagnosis of BA. To develop and evaluate this model, fetuses from 20 hospitals across China and infants sourced from public database were collected. The transfer-learning model (TLM) demonstrated superior diagnostic performance compared to the basic deep-learning model, with higher area under the curves of 0.906 (95%CI: 0.872-0.940) vs 0.793 (0.743-0.843), 0.914 (0.875-0.953) vs 0.790 (0.727-0.853), and 0.907 (0.869-0.945) vs 0.880 (0.838-0.922) for the three independent test cohorts. Furthermore, when aided by the TLM, diagnostic accuracy surpassed that of individual sonologists alone. The TLM achieved satisfactory performance in predicting fetal BA, providing a low-cost, easily accessible, and accurate diagnostic tool for this condition, making it an effective aid in clinical practice.

Interrupted aortic arch (IAA) is a relatively rare congenital vascular malformation, with an incidence of less than 1% among congenital heart diseases (CHD). This condition is classified as a ductdependent anomaly, wherein blood from the left ventricle fails to flow adequately

irGSEA is an R package designed to assess the outcomes of various gene set scoring methods when applied to single-cell RNA sequencing data. This package incorporates six distinct scoring methods that rely on the expression ranks of genes, emphasizing relative expression levels over absolute values. The implemented methods include AUCell, UCell, singscore, ssGSEA, JASMINE and Viper. Previous studies have demonstrated the robustness of these methods to variations in dataset size and composition, generating enrichment scores based solely on the relative gene expression of individual cells. By employing the robust rank aggregation algorithm, irGSEA amalgamates results from all six methods to ascertain the statistical significance of target gene sets across diverse scoring methods. The package prioritizes user-friendliness, allowing direct input of expression matrices or seamless interaction with Seurat objects. Furthermore, it facilitates a comprehensive visualization of results. The irGSEA package and its accompanying documentation are accessible on GitHub (https://github.com/chuiqin/irGSEA).

Pediatric Blood & CancerVolume 71, Issue 5 e30902 LETTER TO THE EDITOR Abnormal coronary hyperperfusion due to a giant hemangioendothelioma in fetal distress: A case report Lulu Liang, Lulu Liang Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, Liaoning, ChinaSearch for more papers by this authorYu Wang, Corresponding Author Yu Wang [email protected] Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China Correspondence Yu Wang and Ying Zhang Department of Ultrasound, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, China. Email: [email protected]; [email protected]Search for more papers by this authorYing Zhang, Corresponding Author Ying Zhang [email protected] orcid.org/0000-0002-5166-534X Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China Correspondence Yu Wang and Ying Zhang Department of Ultrasound, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, China. Email: [email protected]; [email protected]Search for more papers by this author Lulu Liang, Lulu Liang Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, Liaoning, ChinaSearch for more papers by this authorYu Wang, Corresponding Author Yu Wang [email protected] Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China Correspondence Yu Wang and Ying Zhang Department of Ultrasound, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, China. Email: [email protected]; [email protected]Search for more papers by this authorYing Zhang, Corresponding Author Ying Zhang [email protected] orcid.org/0000-0002-5166-534X Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China Correspondence Yu Wang and Ying Zhang Department of Ultrasound, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, China. Email: [email protected]; [email protected]Search for more papers by this author First published: 09 February 2024 https://doi.org/10.1002/pbc.30902Read the full textAboutPDF ToolsRequest permissionExport 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 onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Jiao-Ling L, Xiu-Ping G, Kun-Shan C, et al. Huge fetal hepatic hemangioma: prenatal diagnosis on ultrasound and prognosis. BMC Pregnancy Childbirth. 2018; 18: 2. 10.1186/s12884-017-1635-7 PubMedWeb of Science®Google Scholar 2Gembruch U, Baschat AA. Demonstration of fetal coronary blood flow by color-coded and pulsed wave Doppler sonography: a possible indicator of severe compromise and impending demise in intrauterine growth retardation. Ultrasound Obstet Gynecol. 1996; 7: 10-16. 10.1046/j.1469-0705.1996.07010010.x CASPubMedWeb of Science®Google Scholar 3Paudice M, Peñuela LA, Torielli F, et al. Giant hepatic hemangioma and placental chorangiosis: a unique case of stillbirth? Fetal Pediat Pathol. 2019; 38: 175-181. 10.1080/15513815.2018.1564159 CASPubMedWeb of Science®Google Scholar Volume71, Issue5May 2024e30902 ReferencesRelatedInformation

Objective To explore the diagnostic performance of prenatal ultrasound in the prediction of biliary atresia (BA). Methods We prospectively collected cases of suspected biliary abnormalities in the 2 (nd) trimester of pregnancy and performed a series (at least 3) of prenatal ultrasound examinations in the 2 (nd) and 3 (rd) trimester. The presence of the gallbladder was examined each time, and its size and shape were assessed if the gallbladder was visible. The existence of other abnormalities was carefully evaluated. Neonatal ultrasound examination was conducted within 1 month after birth, and clinical data were followed-up for 6 months after birth. Results Among the 41 895 patients, 298 were suspected to have biliary abnormalities, while 82 patients were excluded due to loss to follow-up or induced labor caused by other abnormalities. A total of 216 patients were included in this study, and 15 were diagnosed with BA. We summarized the ultrasound findings of the gallbladders and defined a high-risk gallbladder for the prenatal diagnosis of BA. This was demonstrated to have the best diagnostic performance as a single parameter, with an area under the curve of 0.914 (95 %CI: 0.869-0.948). In addition, higher incidences of biliary cysts, right hepatic artery dilation, echogenic bowel, and ascites were observed in BA fetuses. Logistic regression analysis showed that the combination of 5 parameters had better diagnostic performance, with an area under the curve of 0.995 (95 %CI: 0.973-0.999). Conclusion The fetal gallbladder was found to be a critical feature for the identification of BA. Concomitant abnormalities could be helpful to improve the accuracy of the diagnosis.

Cardiovascular diseases (CVDs) are the leading cause of mortality and disability worldwide. Numerous studies have demonstrated that non-coding RNAs (ncRNAs) play a primary role in CVD development. Therefore, studies on the mechanisms of ncRNAs are essential for further efforts to prevent and treat CVDs. Small nucleolar RNAs (snoRNAs) are a novel species of non-conventional ncRNAs that guide post-transcriptional modifications and the subsequent maturation of small nuclear RNA and ribosomal RNA. Evidently, snoRNAs are extensively expressed in human tissues and may regulate different illnesses. Particularly, as the next-generation sequencing techniques have progressed, snoRNAs have been shown to be differentially expressed in CVDs, suggesting that they may play a role in the occurrence and progression of cardiac illnesses. However, the molecular processes and signaling pathways underlying the function of snoRNAs remain unidentified. Therefore, it is of great value to comprehensively investigate the association between snoRNAs and CVDs. The aim of this review was to collate existing literature on the biogenesis, characteristics, and potential regulatory mechanisms of snoRNAs. In particular, we present a scientific update on these snoRNAs and their relevance to CVDs in an effort to cast new light on the functions of snoRNAs in the clinical diagnosis of CVDs.

Aims Microvascular morphology and pathological changes in gestational diabetes mellitus (GDM) placentas and normal placentas were observed via vascular casting technology, electron microscopy, and pathological detection technology. Vascular structure and histological morphology changes in GDM placentas were examined to generate basic experimental data for the diagnosis and prognostic determination of GDM. Methods This case–control study involving 60 placentas, 30 from healthy controls and 30 from patients with GDM. Differences in size, weight, volume, umbilical cord diameter, and gestational age were assessed. Histological changes in the placentas in the two groups were analyzed and compared. A placental vessel casting model was constructed using a self-setting dental powder technique, to compare the two groups. The placental cast microvessels of the two groups were compared using scanning electron microscopy. Results There were no significant differences in maternal age or gestational age between the GDM group and the control group ( p > .05). The size, weight, volume, and thickness of the placentas in the GDM group were significantly greater than those in the control group, as was umbilical cord diameter ( p < .05). Immature villus, fibrinoid necrosis, calcification, and vascular thrombosis were significantly greater in the placental mass in the GDM group ( p < .05). The terminal branches of the microvessels in diabetic placenta casts were sparse, with significantly fewer ends and lower villous volume ( p < .05). Conclusion Gestational diabetes can cause gross and histological changes in the placenta, particularly placental microvascular changes.

Background: Predicting subsequent miscarriage risks in women with viable pregnancies in the first trimester can help individualize treatment plans and improve patient outcomes. We aimed to develop a multi-input VGG19 model that combines first-trimester ultrasound (US) images of gestational sacs (GS) and US measurements for miscarriage prediction.Methods: Our study retrospectively evaluated a dataset of US images from 742 pregnant women at 6–8 weeks, from January 2016 to December 2018. Three types of GS segmentation from the sixth, seventh, and eighth weeks’ gestational images are explored for the classification of normal and miscarriage cases by a VGG19 convolutional neural network model. In addition, a variable combining the length, width, and height of the GS, which represents the shape characteristic and crown-rump length (CRL), was added to a multi-input VGG19 proposed in this study. The stratified ten-fold cross-validation method was used to evaluate the classification performance.Findings: The performance of the multi-input VGG19 model (area under the curve [AUC]: 0.981-0.989) was superior to that of the single-input VGG19 model (AUC: 0.959-0.988), in predicting first trimester miscarriages. The extensive segmentation of GS shows better classification results than that of accurate segmentation and cropped rectangular images. In different gestational weeks, compared under the same conditions, the values of the sixth week are higher than those of the seventh and eighth weeks. Interpretation: The multi-input VGG19 model can automatically assist in predicting the early miscarriage possibility based on ultrasound images and assist clinicians in follow-up and nursing planning.Funding Information: National Natural Science Foundation of China (Grant Nos. 81871219,82171649), National Key Research and Development Program (2021YFC2701003, 2021YFC2701104), LiaoNing Revitalization Talents Program (XLYC1902099), and 345 Talent Project of Shengjing Hospital.Declaration of Interests: All authors report no conflict of interest.Ethics Approval Statement: This study was approved by the ethics committee of the Shengjing Hospital of China Medical University (2016PS243K) and was performed in accordance with the Declaration of Helsinki.

Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain 1 – 4 . Mutations that activate Sonic hedgehog signalling lead to Sonic hedgehog MB in the upper rhombic lip (RL) granule cell lineage 5 – 8 . By contrast, mutations that activate WNT signalling lead to WNT MB in the lower RL 9 , 10 . However, little is known about the more commonly occurring group 4 (G4) MB, which is thought to arise in the unipolar brush cell lineage 3 , 4 . Here we demonstrate that somatic mutations that cause G4 MB converge on the core binding factor alpha (CBFA) complex and mutually exclusive alterations that affect CBFA2T2 , CBFA2T3 , PRDM6 , UTX and OTX2 . CBFA2T2 is expressed early in the progenitor cells of the cerebellar RL subventricular zone in Homo sapiens , and G4 MB transcriptionally resembles these progenitors but are stalled in developmental time. Knockdown of OTX2 in model systems relieves this differentiation blockade, which allows MB cells to spontaneously proceed along normal developmental differentiation trajectories. The specific nature of the split human RL, which is destined to generate most of the neurons in the human brain, and its high level of susceptible EOMES + KI67 + unipolar brush cell progenitor cells probably predisposes our species to the development of G4 MB.

Abstract Background Mesenchymal stromal cells (MSCs) are heterogeneous populations. Heterogeneity exists within the same tissue and between different tissues. Some studies have found enormous heterogeneity in immunomodulatory function among MSCs derived from different tissues. Moreover, the underlying mechanism of heterogeneity in immunomodulatory abilities is still unclear. Methods Foreskin mesenchymal stromal cells (FSMSCs) and human umbilical cord mesenchymal stromal cells (HuMSCs) were isolated and cultured until the third passage. According to the International Association for Cell Therapy standard, we confirmed the cell type. Then, FSMSCs and HuMSCs were cocultured with human peripheral blood mononuclear cells (PBMCs) stimulated by lipopolysaccharide (LPS) in vitro. Furthermore, the supernatant was sampled for an enzyme-linked immunosorbent assay to investigate the secretion of IL-1β, IL-6, IL-10, TNF-α, and TGF-β1. Finally, we performed single-cell RNA sequencing (scRNA-seq) of FSMSCs and HuMSCs. Results We successfully identified FSMSCs and HuMSCs as MSCs. When cocultured with LPS pretreated PBMCs, FSMSCs and HuMSCs could effectively reduced the secretion of IL-1β and TNF-α. However, FSMSCs stimulated the PBMCs to secrete more IL-10, TGF-β1, and IL-6. Furthermore, 4 cell subsets were identified from integrated scRNA-seq data, including proliferative MSCs (MKI67 +, CD146 low+, NG2 +, PDGFRB − ), pericytes (CD146 high+, PDGFRB +, MKI67 − , CD31 − , CD45 − , CD34 − ), immune MSCs (CXCL12 high+, PTGIS high+, PDGFRB +, CD146 − , MKI67 − ) and progenitor proliferative MSCs (CXCL12 low+, PTGIS low+, PDGFRB +, CD146 − , MKI67 − ). Among them, we found that immune MSCs with strengthened transcriptional activity were similar to pericytes with regard to the degree of differentiated. Various of immune-related genes, gene sets, and regulons were also enriched in immune MSCs. Moreover, immune MSCs were determined to be close to other cell subsets in cell–cell communication analysis. Finally, we found that the proportion of immune MSCs in foreskin tissue was highest when comparing the subset compositions of MSCs derived from different tissues. Conclusions FSMSCs show better immunomodulatory capacity than HuMSCs in vitro. Moreover, immune MSCs may play a vital role in the heterogeneity of immunoregulatory properties. This study provides new insights suggesting that immune MSCs can be isolated to exert stable immunoregulatory functions without being limited by the heterogeneity of MSCs derived from different tissues.

Background: Mesenchymal stromal cells (MSCs) and fibroblasts show similar morphology, surface marker expression, and proliferation, differentiation, and immunomodulatory capacities. These similarities not only blur their cell identities but also limit their application. Methods: We performed single-cell transcriptome sequencing of the human umbilical cord and foreskin MSCs (HuMSCs and FSMSCs) and extracted the single-cell transcriptome data of the bone marrow and adipose MSCs (BMSCs and ADMSCs) from the Gene Expression Omnibus (GEO) database. Then, we performed quality control, batch effect correction, integration, and clustering analysis of the integrated single-cell transcriptome data from the HuMSCs, FMSCs, BMSCs, and ADMSCs. The cell subsets were annotated based on the surface marker phenotypes for the MSCs (CD105 + , CD90 +, CD73 +, CD45 −, CD34 −, CD19 −, HLA-DRA −, and CD11b −), fibroblasts (VIM +, PECAM1 −, CD34 −, CD45 −, EPCAM −, and MYH11 −), and pericytes (CD146 +, PDGFRB +, PECAM1 −, CD34 −, and CD45 −). The expression levels of common fibroblast markers (ACTA2, FAP, PDGFRA, PDGFRB, S100A4, FN1, COL1A1, POSTN, DCN, COL1A2, FBLN2, COL1A2, DES, and CDH11) were also analyzed in all cell subsets. Finally, the gene expression profiles, differentiation status, and the enrichment status of various gene sets and regulons were compared between the cell subsets. Results: We demonstrated 15 distinct cell subsets in the integrated single-cell transcriptome sequencing data. Surface marker annotation demonstrated the MSC phenotype in 12 of the 15 cell subsets. C10 and C14 subsets demonstrated both the MSC and pericyte phenotypes. All 15 cell subsets demonstrated the fibroblast phenotype. C8, C12, and C13 subsets exclusively demonstrated the fibroblast phenotype. We identified 3,275 differentially expressed genes, 305 enriched gene sets, and 34 enriched regulons between the 15 cell subsets. The cell subsets that exclusively demonstrated the fibroblast phenotype represented less primitive and more differentiated cell types. Conclusion: Cell subsets with the MSC phenotype also demonstrated the fibroblast phenotype, but cell subsets with the fibroblast phenotype did not necessarily demonstrate the MSC phenotype, suggesting that MSCs represented a subclass of fibroblasts. We also demonstrated that the MSCs and fibroblasts represented highly heterogeneous populations with distinct cell subsets, which could be identified based on the differentially enriched gene sets and regulons that specify proliferating, differentiating, metabolic, and/or immunomodulatory functions.

Purpose Abnormal morphology characteristics of the gestational sac give accurate prediction for the early spontaneous abortion. However, due to the high noise and the weak transmission of ultrasonic signals, accurate segmentation is an urgent and challenging task for quantitative morphology analysis of gestational sacs in ultrasound images. Methods This paper proposes an accurate segmentation framework for gestational sac ultrasound images from two different scanning machines based on an improved level-set algorithm driven by shape domain-specific knowledge. Firstly, the gestational sac candidate image is roughly segmented using the Chan-Vese (CV) model, and the minimum convex polygon is reserved according to the quasi-circular character of the sacs. Then, the gestational sacs are divided into two categories, such as the concave and convex ones, followed by separate corresponding processing for further accurate segmentation. Results A total of 194 ultrasound images of the gestational sacs of 6–9 were processed in this experiment. For testing, we have obtained the mean Dice and Intersection over Union (IOU) value of 0.916 and 0.842, and the average sensitivity (SEN) and positive prediction rate (PPV) are 0.958 and 0.890, respectively. The evaluation results show that our proposed segmentation framework has better performance than other commonly used segmentation methods. Conclusion The evaluation results show that our proposed segmentation framework has better performance than other commonly used segmentation methods.

Rationale: The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. After a BALF ACER examination, the patient was found to have a rareMycobacterium abscess infection. Patient concerns: We report a case of SCN withMycobacterium abscess infection caused by ELANE gene mutation. Conventional antiinfection and granulocyte colony-stimulating factor (G-CSF) did not ameliorate patient’s symptoms. The absolute neutrophil count (ANC) most of the time < 0.50 × 109/L. Diagnoses: According to Gene sequencing and other tests, the patient was diagnosed with SCN caused by ELANE gene mutation, severe pneumonia, Mycobacteriosis abscess, nutritional iron deficiency anemia, multiple abscesses of the skin, hypergammaglobuloemia, and thrush. Interventions: Anti-infection agents, abscess incision and drainage, blood transfusion, G-CSF were treated. Outcomes: The fever subsided, the cough disappeared, the anemia improved, and the ANC improved (0.69 × 109/L). Currently, the patient has been followed up in the outpatient clinic for 20months, during which time fever, bone pain, gingivitis and thrush occasionally appeared. The ANC fluctuated between 0.20 and 1.27 × 109/L, suggesting the need for a timely hematopoietic stem cell transplant (HSCT). Lessons: ELANE gene-related SCN is rare in children, and the possibility of this disease should be considered in children with recurrent severe bacterial infections and a significant reduction in neutrophils in the peripheral blood shortly after birth. In addition to strengthening nursing care and actively preventing and controlling infection, other rare bacterial infections should be considered in clinical practice.

IntroductionPrenatal diagnosis of pulmonary atresia is difficult in relative, especially when the pulmonary artery is slim and hypoplastic in development. It is of great importance to search for the blood supply to the pulmonary artery in those fetuses while it challenges most screening sonographers, even fetal echocardiography specialists. We herein report a rare case of pulmonary atresia with ventricular septal defect, complicated with an aberrant ductus arteriosus which provides the blood supply to the pulmonary artery. Besides, the case was also accompanied by cardiac malposition, dextrocardia with situs solitus. The echocardiographic characteristics and autopsy findings are also presented to approach the skill of fetal diagnosis.Case presentationA 30-year-old primigravida woman was referred to our center at gestational age of (24 ± 3) weeks for further fetal cardiac examination for suspected fetal cardiac anomalies. Fetal echocardiography revealed dextrocardia, situs solitus of the atria, an L-ventricular loop, a ventricular septal defect, an enlarged coronary sinus, and pulmonary atresia by transverse scanning. The ductus arteriosus was not present at the three-vessel trachea view with the retrograde flow showing in the pulmonary artery trunk, which suggested the possibility of an aberrant ductus arteriosus. Sagittal and coronal scanning was attempted to find that the pulmonary artery connected with the innominate artery via the aberrant ductus arteriosus. Three-dimensional echocardiography with spatio-temporal image correlation and high-definition flow imaging technique was performed to obtain the three-dimensional rendered image, which clearly showed the malformation in space. The pregnancy was terminated and the gross findings confirmed the prenatal diagnosis.ConclusionA detailed evaluation of fetal cardiac anatomy and hemodynamics is crucial for the detection of an aberrant ductus arteriosus, which plays an important role in the diagnosis of pulmonary atresia with ventricular septal defect. Sagittal and coronal scanning is useful to find the course of this aberrant ductus arteriosus. The three-dimensional echocardiography with spatio-temporal image correlation technique could provide additional spatial information to show great arteries in detail, which can serve as a supplement to traditional two-dimensional modality and benefit examiners to make an accurate diagnosis.

Background Prenatal diagnosis of coarctation of the aorta (CoA) is challenging for most examiners. The malformation often occurs at the aortic isthmus, which is a short segment between the origin of the left subclavian artery and the insertion of the ductus. We report herein a rare case of CoA with a long, angled, and hypoplastic isthmus. The echocardiographic characteristics and postmortem findings are presented to approach the skill of fetal diagnosis. Case presentation A pregnant women undergone fetal echocardiography at 26 + 3 gestational weeks in our center. Conventional two-dimensional echocardiography (2DE) showed that ascending aorta went straight upward branching three brachiocephalic arteries without the appearance of the arch, suggesting the possibility of an interrupted aortic arch. Three-dimensional echocardiography (3DE) using spatiotemporal image correlation (STIC) and high-definition flow imaging technique was performed to obtain the 3D rendered images, which clearly showed the arch and its angled junction with the slim isthmus in space. Intra-uterine fetal death occurred and an autopsy was performed. The gross findings showed the angled hypoplastic aortic isthmus in detail and thus confirmed the prenatal diagnosis. Conclusions Traditional 2DE may be limited in showing the angled hypoplastic aortic isthmus, while the 3DE STIC technique can provide additional spatial information to show great arteries in detail, help to find tiny vessels, and thus benefit the examiners to make an accurate diagnosis.