A water-immersible scanning mirror with hybrid polymer and elastomer hinges for high-speed and wide-field 3D ultrasound imaging.

This paper reports a new water-immersible single-axis scanning mirror using hybrid polymer and elastomer hinges to achieve both high scanning resonance frequencies and large tilting angles for high-speed and wide-field 3D ultrasound imaging. To demonstrate the concept, a prototype scanning mirror is designed, fabricated, and characterized. The fast- and slow-scanning were achieved by integrating stiff BoPET (biaxially oriented polyethylene terephthalate) and soft elastomer PDMS (Polydimethylsiloxane) hinges, respectively. The testing results have shown a resonance frequency of 270 Hz for the BoPET hinges and a resonance frequency of 10 Hz for the PDMS hinges when the scanning mirror was immersed in water. 3D ultrasound imaging is demonstrated by combining the fast- and slow-scanning together to provide both an augmented field of view (FoV) and high local imaging volume rate.

3D ultrasound-augmented image guidance for surgery of high-grade gliomas - A quantitative analysis focused on the extent of resection.

Background: We have retrospectively reviewed our series of brain tumor patients operated on using 3D IntraOperative UltraSound (IOUS) to report technical advantages and areas of improvement. Methods: Clinical and radiological data of patients with a diagnosis of high-grade glioma IV operated with and without IOUS were retrieved and analyzed. Results: We have found 391 patients operated using IOUS coupled with neuronavigation and 257 using neuronavigation standalone. We have selected a pool of 60 patients with a diagnosis of GlioBlastoma (GB), comparing two equally sized groups operated with and without IOUS, respectively. The average extent of resection (EOR) in the IOUS group was 93%, while in the control group, it was 80%. IOUS was significantly associated with improved EOR (P < 0.0004), even when accounting for other factors affecting EOR. The average overall survival (OS) was 13.4 months, and the average progression-free survival (PFS) was 7.4 months. The Cox proportional hazard model showed an advantage in OS on patients operated using the IOUS. No statistically significant effect was observed on PFS. Conclusion: Intraoperative ultrasound coupled with image guidance is associated with an improved EOR and possibly an improved OS. While we are aware of several limitations related to the present analysis, these data support the routine use of IOUS as a safe and reliable technology. Larger, prospective series with updated IOUS technology are desirable to verify the accuracy of these results.

Regional changes in the free Achilles tendon volume in response to repeated submaximal contractions.

INTRODUCTION: The Achilles tendon (AT) may become smaller in volume following acute bouts of heavy and sustained loading likely because of transient fluid exudation to the periphery and this could augment cellular mechanotransduction and tendon adaptation. Given the structure of the AT is distinct across its length, regional changes in the free AT volume may occur in response to loading. This study aimed to investigate whether the change in tendon volume in response to repeated submaximal loading is distinct across the free AT length. METHODS: Sixteen ATs of healthy males and females (age 24.4 ± 9.4 years, body mass 70.9 ± 16.1 kg, height 1.7 ± 0.1 m) were scanned at rest using freehand 3D ultrasound. Scanning was done before and immediately after submaximal (75 %) voluntary isometric plantarflexion contractions (8 s) involving four sets of ten repetitions. Regional volumetric changes were assessed across the free AT length by dividing the tendon into distal, mid, and proximal regions. RESULTS: Significant reduction in the free AT volume occurred across all tendon regions in response to the intervention, however, the mid- region exhibited the greatest reduction in volume compared to the proximal region (P = 0.025). DISCUSSION: The fact that volume reduction was greatest in the mid-region compared to the proximal region of the free AT may suggest greater tendon adaptation, via mechanotransduction pathways, in the mid-region and this may be important for tendon health and injury prevention.

Personalized medicine in the evaluation of Müllerian anomalies: the role of three-dimensional printing technology.

Objective: To present the comprehensive methodology for generating personalized three-dimensional (3D) printed uterine models from 3D ultrasound (US) volumes in individuals diagnosed with Müllerian anomalies and discuss potential applications in the field of reproductive endocrinology and infertility. Design: Pilot study. Setting: Single large university-affiliated teaching hospital. Patients: Patients with the presence of a Müllerian anomaly between the ages of 18 and 45 years attending the maternal-fetal medicine as well as reproductive endocrinology and infertility outpatient offices from 2018 to 2023 were included in the study. Interventions: Subjects underwent 3D US transvaginal scanning for the collection of data. The 3D US volumes were acquired, edited, and exported from a US cart Voluson E10 system (GE Healthcare, Chicago, IL). High-definition virtual models were created and modified, making them suitable for printing using Materialise 3-Matic Medical (Materialise NV, Leuven, Belgium). The models were printed on a J5 MediJet 3D printer (Stratasys, Rehovot, Israel). Colors were set to mimic a realistic appearance, and shore values were set before printing. Main Outcome Measures: Successful creation and utilization of personalized 3D-printed uterine models for individuals with Müllerian anomalies. Resultss: Three-dimensional models were created for a uterus without anomalies, 2 variations of a partial septum, a unicornuate, and a didelphys uterus. Models were used as a tactile and customized tool for patient education, counseling, and medical student and resident teaching. This technique illustrates that the creation of personalized 3D-printed uterine models for utilization in the fields of reproductive endocrinology and infertility is feasible. Conclusions: We propose a novel use of individualized 3D-printed uterine models in the evaluation of individuals with Müllerian anomalies. These models may play a complementary role to standard imaging options in the assessment of these anomalies, with a special potential for application in highly complex or yet-to-be-determined types of anomalies.

Prenatal Three-Dimensional Ultrasound Diagnosis of Dural Sinus Arteriovenous Malformation: An Unusual Case Report.

BACKGROUND: Dural sinus arteriovenous malformation is an uncommon intracranial vascular malformation. The affected cases may suffer from severe neurological injury. Prenatal ultrasound has been used to diagnose fetal intracranial vascular abnormality, but prenatal three-dimensional (3D) ultrasound presents a very rare anomaly; an arteriovenous malformation of the dural sinus has not been reported. OBJECTIVE: This study aimed to emphasize the diagnostic value of 3D ultrasound in the fetus with dural sinus arteriovenous malformation. CASE PRESENTATION: A 38-year-old woman was referred for targeted fetal ultrasonography at 37 weeks of gestation due to an ultrasound that showed a cystic lesion in the posterior cranial fossa. The fetus demonstrated obvious dilatation of the torcular herophili, bilateral transverse sinuses, and bilateral sigmoid sinuses, appearing as a novel bull's horn sign on 3D ultrasound. After birth, cerebral angiography confirmed the diagnosis of dural arteriovenous fistula (DAVF) in the occipital sinus region. CONCLUSION: 3D ultrasound is an appealing method for prenatal diagnosis of dural sinus arteriovenous malformation.

Fetal Diagnosis of a Ductus Arteriosus Aneurysm: A Case Report.

The ductus arteriosus aneurysm (DAA) is considered a rare anatomical alteration that consists of a dilation of this vascular structure. It has been reported that the DAA can resolve in the immediate postnatal stage and do not generate any consequences for the neonate. However, have been described some cases in which the DAA is complicated due to thromboembolic events, rupture of the lesion, respiratory symptoms, and even death. We present a case report of aneurysm of the ductus arteriosus diagnosed at 24 weeks of gestation with detailed imaging study. Also, we highlight the importance of the use of fundamental tools in the diagnosis: 3D ultrasound, multiplanar reconstruction, spatio-temporal image correlation (STIC), and omniview.

Improved ground truth annotation by multimodal image registration from 3D ultrasound to histopathology for resected tongue carcinoma.

OBJECTIVES: This study's objectives are (1) to investigate the registration accuracy from intraoperative ultrasound (US) to histopathological images, (2) to assess the agreement and correlation between measurements in registered 3D US and histopathology, and (3) to train a nnUNet model for automatic segmentation of 3D US volumes of resected tongue specimens. METHODS: Ten 3D US volumes were acquired, including the corresponding digitalized histopathological images (n = 29). Based on corresponding landmarks, the registrations between 3D US and histopathology images were calculated and evaluated using the target registration error (TRE). Tumor thickness and resection margins were measured based on three annotations: (1) manual histopathological tumor annotation (HTA), manual 3D US tumor annotation, and (2) the HTA registered in the 3D US. The agreement and correlation were computed between the measurements based on the HTA and those based on the manual US and registered HTA in US. A deep-learning model with nnUNet was trained on 151 3D US volumes. Segmentation metrics quantified the model's performance. RESULTS: The median TRE was 0.42 mm. The smallest mean difference was between registered HTA in US and histopathology with 2.16 mm (95% CI - 1.31; 5.63) and a correlation of 0.924 (p < 0.001). The nnUNet predicted the tumor with a Dice similarity coefficient of 0.621, an average surface distance of 1.15 mm, and a Hausdorff distance of 3.70 mm. CONCLUSION: Multimodal image registration enabled the HTA's registration in the US images and improved the agreement and correlation between the modalities. In the future, this could be used to annotate ground truth labels accurately.

Optimal configurations of an electromagnetic tracking system for 3D ultrasound imaging of pediatric hips - A phantom study.

Tracking the position and orientation of a two-dimensional (2D) ultrasound scanner to reconstruct a 3D volume is common, and its accuracy is important. In this study, a specific miniaturized electromagnetic (EM) tracking system was selected and integrated with a 2D ultrasound scanner, which was aimed to capture hip displacement in children with cerebral palsy. The objective of this study was to determine the optimum configuration, including the distance between the EM source and sensor, to provide maximum accuracy. The scanning volume was aimed to be 320 mm × 320 mm × 76 mm. The accuracy of the EM tracking was evaluated by comparing its tracking with those from a motion capture camera system. A static experiment showed that a warm-up time of 20 min was needed. The EM system provided the highest precision of 0.07 mm and 0.01° when the distance between the EM source and sensor was 0.65 m. Within the testing volume, the maximum position and rotational errors were 2.31 mm and 1.48°, respectively. The maximum error of measuring hip displacement on the 3D hip phantom study was 4 %. Based on the test results, the tested EM system was suitable for 3D ultrasound imaging of pediatric hips to assess hip displacement when optimal configuration was used.

Embryonic size and growth and adverse birth outcomes: the Rotterdam Periconception Cohort.

STUDY QUESTION: Is early embryonic size and growth in the first trimester of pregnancy associated with adverse birth outcomes? SUMMARY ANSWER: Larger embryonic crown-rump length (CRL) and embryonic volume (EV) are associated with lower odds of adverse birth outcomes, especially small for gestational age (SGA). WHAT IS ALREADY KNOWN: Preterm birth, SGA, and congenital anomalies are the most prevalent adverse birth outcomes with lifelong health consequences as well as high medical and societal costs. In the late first and second trimesters of pregnancy, fetuses at risk for adverse birth outcomes can be identified using 2-dimensional ultrasonography (US). STUDY DESIGN, SIZE, DURATION: Between 2009 and 2018, singleton pregnancies were enrolled in this ongoing prospective Rotterdam Periconception Cohort. PARTICIPANTS/MATERIALS, SETTING, METHODS: This study included 918 pregnant women from a tertiary hospital in the Netherlands. Pregnancy dating was based on either a regular menstrual cycle (for natural pregnancies) or a conception date (for ART pregnancies). CRL and EV were measured using Virtual Reality software on 3-dimensional (3D) ultrasound scans, repeatedly performed around 7, 9, and 11 weeks of gestation. The main outcome measure was adverse birth outcome, defined as the composite of SGA (birth weight <10th percentile), preterm birth (<37th week of gestation), congenital anomalies (Eurocat criteria), stillbirth (>16th week of pregnancy), or early neonatal mortality (≤7 days of life). Reference curves for CRL and EV were constructed. Cross-sectional (CRL/EV <20th percentile at 7, 9, and 11 weeks of gestation) and longitudinal (CRL/EV growth trajectories between 6th and 13th weeks) regression analyses were performed, with adjustments for the participants' educational level, smoking, parity, age, BMI, geographical background, mode of conception, and fetal sex. MAIN RESULTS AND THE ROLE OF CHANCE: Of the 918 pregnant women included, the median age was 32.3 years, and 404 (44%) pregnancies had been conceived via ART. In 199 (22%) pregnancies, there was an adverse birth outcome. Regression analyses showed that at 7 weeks of gestation onwards, embryos with a CRL <20th percentile had an ∼2-fold increased odds of adverse birth outcome (adjusted odds ratio (aOR) 2.03, 95% CI 1.21-3.39, P = 0.007). Similar associations were found for EV <20th percentile but were not statistically significant. These findings were mainly driven by the strong association between embryonic size and SGA (e.g. 7-week CRL: aOR 2.18 (1.16-4.09), P = 0.02; 9-week EV: aOR 2.09 (1.10-3.97, P = 0.02). Longitudinal growth trajectories of CRL, but not of EV, were associated with adverse birth outcomes. Both CRL and EV growth trajectories were associated with SGA. LIMITATIONS, REASONS FOR CAUTION: The tertiary hospital population and the availability of sophisticated 3D-ultrasound techniques limit the generalizability of this study to general populations and settings. WIDER IMPLICATIONS OF THE FINDINGS: Already very early in the first trimester of pregnancy, embryos with increased risks of an adverse birth outcome can be identified by using 3D-US and Virtual Reality. This expands the window of opportunity to enable the development of future interventions to potentially improve pregnancy outcomes and offspring health during their life-course. STUDY FUNDING/COMPETING INTEREST(S): This work was funded by the Department of Obstetrics and Gynecology, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands. The authors declare no conflicts of interest. TRIAL REGISTRATION NUMBER: NL4115.

Reliability and accuracy of scoliotic parameters on using a wireless handheld 3D ultrasound for children with adolescent idiopathic scoliosis: a pilot study.

PURPOSE: To report the accuracy and reliability of Cobb angle (CA), axial vertebral rotation (AVR), kyphotic and lordotic angles (KA and LA) measurements on using a new 3D ultrasound (US) system. METHODS: Forty participants (34 F, 6 M, aged 14.0 ± 2.3 years) were recruited. The first 20 participants were scanned by the validated US system and the new US system. The other 20 participants were scanned with the new US system only. Two raters (R1 and R2) performed the measurements: R1 has 10 years of experience in radiology but is new in ultrasound scoliosis, while R2 has 30 years of scoliosis experience. All US images were measured twice by R1, and once by R2. Forty posteroanterior and 30 lateral standing radiographs were obtained and measured once by R1. Statistical analysis consisted of mean absolute difference (MAD), intraclass correlation coefficient (ICC (2,1)), and Bland-Altman plots. RESULTS: R1 showed excellent intra-rater and inter-rater reliability for US measurements with ICCs(2,1) ≥ 0.91. The inter-method reliability was good between the two US systems for all parameters with ICCs(2,1) ≥ 0.85 and maximum MAD of 3.4°. The new US showed good reliability and accuracy compared to radiographs for CA, AVR and KA with ICCs(2,1) ≥ 0.81 and maximum MAD of 5.8°, but poor results for LA with ICCs(2,1) of 0.27-0.35 and MADs of 14.0°-15.4°. CONCLUSION: The new 3D US system showed good reliability and accuracy for CA, AVR and KA measurements, but a large measurement discrepancy on LA. A new measurement method for US LA may need to investigate.

Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report.

INTRODUCTION AND IMPORTANCE: Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, and syndactyly. Prenatal diagnosis of this condition can be challenging. This case report highlights the importance of recognizing characteristic ultrasound findings for timely diagnosis and genetic counselling. CASE PRESENTATION: A 37-year-old, gravida 1, para 0 woman underwent a routine third-trimester ultrasound at 31 weeks gestation. The examination revealed significant hydramnios, bilateral hand syndactyly, foot abnormalities, and an unusual head shape with a prominent forehead, flat occiput, hypertelorism, and low-set ears. These findings raised suspicion for Apert syndrome. Subsequent molecular analysis confirmed a mutation in the FGFR2 gene, confirming the diagnosis. Three-dimensional (3D) ultrasound imaging was utilized to provide the parents with a clearer understanding of the foetal anomalies, aiding in their decision-making process. Given the high risk of impaired intellectual development and the complexity of its management, the pregnancy was terminated at 33 weeks' gestation. CLINICAL DISCUSSION: This case emphasizes the role of comprehensive prenatal ultrasound in identifying potential foetal anomalies, even in the absence of prior risk factors. Characteristic sonographic findings, such as craniosynostosis, syndactyly, and hydramnios, should raise suspicion for the diagnosis, even in the absence of family history. Molecular confirmation through FGFR2 gene testing is essential for definitive diagnosis and informed genetic counselling. CONCLUSION: While Apert syndrome is rare, recognizing its characteristic sonographic features can facilitate timely diagnosis. The use of 3D ultrasound imaging can be invaluable in enhancing parental understanding and facilitating informed decision-making.

Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.

Cleft lip and/or palate are prevalent congenital anomalies. Early and accurate diagnosis allows proper case management. The Objective: This retrospective cohort study aimed to investigate the association between cleft lip and palate and other congenital anomalies. Methods: This study analyzed 17 pregnancies prenatally diagnosed with cleft lip and palate. The investigations consisted of ultrasound examination, fetal karyotyping through amniocentesis, and family tree analysis. In the presence of an abnormal fetal karyotype, the parental karyotype was also indicated. Results: Of the 17 cases identified, 9 (52.94%) were syndromic and 8 (47.06%) were non-syndromic. The genetic syndromes identified in association with cleft lip and palate in this study included translocation syndrome (one case), Patau syndrome, trisomy 13 (seven cases), and Edwards syndrome, mosaic trisomy 18 (one case). Conclusions: A comprehensive approach ensures a thorough assessment and accurate diagnosis. Early detection and a multidisciplinary approach allow appropriate case management.

Feasibility of a Novel 3D Ultrasound Imaging Technique for Intraoperative Margin Assessment during Tongue Cancer Surgery.

Squamous cell carcinoma (SCC) of the tongue is the most prevalent form of oral cavity cancer, with surgical intervention as the preferred method of treatment. Achieving negative or free resection margins of at least 5 mm is associated with improved local control and prolonged survival. Nonetheless, margins that are close (1-5 mm) or positive (less than 1 mm) are often observed in practice, especially for the deep margins. Ultrasound is a promising tool for assessing the depth of invasion, providing non-invasive, real-time imaging for accurate evaluation. We conducted a clinical trial using a novel portable 3D ultrasound imaging technique to assess ex vivo surgical margin assessment in the operating room. During the operation, resected surgical specimens underwent 3D ultrasound scanning. Four head and neck surgeons measured the surgical margins (deep, medial, and lateral) and tumor area on the 3D ultrasound volume. These results were then compared with the histopathology findings evaluated by two head and neck pathologists. Six patients diagnosed with tongue SCC (three T1 stage and three T2 stage) were enrolled for a consecutive cohort. The margin status was correctly categorized as free by 3D ultrasound in five cases, and one case with a "free" margin status was incorrectly categorized by 3D ultrasound as a "close" margin. The Pearson correlation between ultrasound and histopathology was 0.7 (p < 0.001), 0.6 (p < 0.001), and 0.3 (p < 0.05) for deep, medial, and lateral margin measurements, respectively. Bland-Altman analysis compared the mean difference and 95% limits of agreement (LOA) for deep margin measurement by 3D ultrasound and histopathology, with a mean difference of 0.7 mm (SD 1.15 mm). This clinical trial found that 3D ultrasound is accurate in deep margin measurements. The implementation of intraoperative 3D ultrasound imaging of surgical specimens may improve the number of free margins after tongue cancer treatment.

Neural implicit surface reconstruction of freehand 3D ultrasound volume with geometric constraints.

Three-dimensional (3D) freehand ultrasound (US) is a widely used imaging modality that allows non-invasive imaging of medical anatomy without radiation exposure. Surface reconstruction of US volume is vital to acquire the accurate anatomical structures needed for modeling, registration, and visualization. However, traditional methods cannot produce a high-quality surface due to image noise. Despite improvements in smoothness, continuity, and resolution from deep learning approaches, research on surface reconstruction in freehand 3D US is still limited. This study introduces FUNSR, a self-supervised neural implicit surface reconstruction method to learn signed distance functions (SDFs) from US volumes. In particular, FUNSR iteratively learns the SDFs by moving the 3D queries sampled around volumetric point clouds to approximate the surface, guided by two novel geometric constraints: sign consistency constraint and on-surface constraint with adversarial learning. Our approach has been thoroughly evaluated across four datasets to demonstrate its adaptability to various anatomical structures, including a hip phantom dataset, two vascular datasets and one publicly available prostate dataset. We also show that smooth and continuous representations greatly enhance the visual appearance of US data. Furthermore, we highlight the potential of our method to improve segmentation performance, and its robustness to noise distribution and motion perturbation.

Relationship between pelvic floor muscle function and insulin resistance among non-diabetic females: a 3d ultrasound evaluation.

BACKGROUND: To use the three-dimensional (3D) ultrasound for assessment of pelvic floor muscle function in non-diabetic females with insulin resistance (IR), and to evaluate its functional relationship with insulin levels. METHODS: From October 2022 to November 2023, 216 non-diabetic females with insulin-resistant (IR group) and 118 normal females (control group) were sequentially recruited from our hospital for our study. The 3D ultrasound was used to assess the levator hiatus in resting state for all females regarding diameter lines, perimeters and areas; as well as the Valsalva manoeuvre (VM). The t-test and linear regression model were used to analyse the collected data. RESULTS: The analysis indicates that there were significant differences in the resting state of the levator hiatus between the IR and the control groups (14.8 ± 5.8 cm2 and 11.6 ± 2.7 cm2, p < 0.05); and in the VM (18.2 ± 6.3 cm2 and 13.4 ± 3. 4 cm2, p < 0.05). In addition, the anterior-posterior (AP) diameters of the hiatus on VM were significantly increased in the IR group (40.0 ± 4.7 mm and 33.0 ± 4.4 mm, p < 0.05). With insulin levels as the dependent variable, multivariate regression analysis shows that insulin levels were significantly correlated with the levator hiatus area on VM (p < 0.05) and waist circumference (p < 0.05). The pelvic organ descent on VM in the IR group was significant (p < 0.05). CONCLUSIONS: The areas of resting state levator hiatus and on VM were significantly larger in the IR than that in the control groups. In addition, the position of the pelvic organ on VM in the IR group was significantly descended. The insulin levels were correlated with the pelvic floor muscle function.

With regard to insulin resistance and pelvic floor function, previous studies focused on the role of polycystic ovaries, metabolic syndrome, and pelvic prolapse. The use of ultrasound can improve understanding of the static, dynamic and organ prolapse conditions. This study aimed to assess pelvic floor muscle function in non-diabetic women with insulin resistance, a condition where the body uses insulin less effectively. A total of 216 women with insulin resistance and 118 without it were examined using 3D ultrasound during rest and while performing the Valsalva manoeuvre. Our results show that the pelvic floor muscles had extra space between them and moved differently in women with insulin resistance than in those without the condition. This suggests that insulin resistance may affect function of pelvic floor muscles to cause adverse consequences.

Six-Degree-of-Freedom Freehand 3D Ultrasound: A Low-Cost Computer Vision-Based Approach for Orthopedic Applications.

In orthopedics, X-rays and computed tomography (CT) scans play pivotal roles in diagnosing and treating bone pathologies. Machine bulkiness and the emission of ionizing radiation remain the main problems associated with these techniques. The accessibility and low risks related to ultrasound handling make it a popular 2D imaging method. Indeed, 3D ultrasound assembles 2D slices into a 3D volume. This study aimed to implement a probe-tracking method for 6 DoF 3D ultrasound. The proposed method involves a dodecahedron with ArUco markers attached, enabling computer vision tracking of the ultrasound probe's position and orientation. The algorithm focuses on the data acquisition phase but covers the basic reconstruction required for data generation and analysis. In the best case, the analysis revealed an average error norm of 2.858 mm with a standard deviation norm of 5.534 mm compared to an infrared optical tracking system used as a reference. This study demonstrates the feasibility of performing volumetric imaging without ionizing radiation or bulky systems. This marker-based approach shows promise for enhancing orthopedic imaging, providing a more accessible imaging modality for helping clinicians to diagnose pathologies regarding complex joints, such as the shoulder, replacing standard infrared tracking systems known to suffer from marker occlusion problems.

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

BACKGROUND: Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin-Chaudry-Moss syndrome and Fontaine-Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly, distinctive dysmorphic facial features, hypertrichosis, severe prenatal and postnatal growth restriction, limb shortening, and early aging with characteristic skin changes, phalangeal anomalies, and genital malformations. CASES: All known occurrences of FPS have been postnatally observed until now. Here, we present the first two prenatal cases identified during the second trimester of pregnancy. While affirming the presence of most postnatal abnormalities in prenatal cases, we note the absence of a progeroid appearance in young fetuses. Notably, our reports introduce new phenotypic features like encephalocele and nephromegaly, which were previously unseen postnatally. Moreover, paternal SLC25A24 mosaicism was detected in one case. CONCLUSIONS: We present the initial two fetal instances of FPS, complemented by thorough phenotypic and genetic assessments. Our findings expand the phenotypical spectrum of FPS, unveiling new fetal phenotypic characteristics. Furthermore, one case underscores a potential novel inheritance pattern in this disorder. Lastly, our observations emphasize the efficacy of exome/genome sequencing in both prenatal and postmortem diagnosis of rare polymalformative syndromes with a normal karyotype and array-based comparative genomic hybridization (CGH).

3Dimensional sonography for the diagnosis of congenital uterine anomalies in women with eccentric pregnancy implantation: a novel approach.

PURPOSE: The eccentric implantation of pregnancies in the upper lateral aspect of the uterine cavity is poorly defined clinically. The aim of the current study was to investigate whether differentiating between uterine anomalies that can lead to cavitary distortion has implications for the management of these pregnancies. METHODS: Eight cases of first-trimester eccentric pregnancy implantation within the endometrial cavity (study group) were retrospectively identified. For each woman in the study group, 10 women identified as having a first-trimester concentric pregnancy implantation during the first-trimester US examination were retrieved from our database (control group). After delivery or pregnancy demise, the presence of uterine anomalies was assessed by a 3D-US examination in all patients. RESULTS: In the study group patients, an increased incidence of uterine anomalies (50.0% vs. 8.8%, p = 0.007) was found, compared to the controls. In the study group, the eccentric location persisted in half of the pregnancies (n = 4; 50%), whereas the other half migrated to a more centric location within the endometrial cavity (n = 4; 50%). The follow-up examination showed that all the early pregnancy demises occurred in cases where the pregnancy persisted at the eccentric location. Uterine malformations were also detected in all these cases. CONCLUSION: The data point to a significantly higher incidence of uterine anomalies in patients diagnosed with eccentric pregnancy implantation within the endometrial cavity. These results advocate for the value of differentiating between eccentric pregnancies in non-anomalous versus anomalous uteri.

Automatic robotic doppler sonography of leg arteries.

PURPOSE: Robot-assisted systems offer an opportunity to support the diagnostic and therapeutic treatment of vascular diseases to reduce radiation exposure and support the limited medical staff in vascular medicine. In the diagnosis and follow-up care of vascular pathologies, Doppler ultrasound has become the preferred diagnostic tool. The study presents a robotic system for automatic Doppler ultrasound examinations of patients' leg vessels. METHODS: The robotic system consists of a redundant 7 DoF serial manipulator, to which a 3D ultrasound probe is attached. A compliant control was employed, whereby the transducer was guided along the vessel with a defined contact force. Visual servoing was used to correct the position of the probe during the scan so that the vessel can always be properly visualized. To track the vessel's position, methods based on template matching and Doppler sonography were used. RESULTS: Our system was able to successfully scan the femoral artery of seven volunteers automatically for a distance of 20 cm. In particular, our approach using Doppler ultrasound data showed high robustness and an accuracy of 10.7 (±3.1) px in determining the vessel's position and thus outperformed our template matching approach, whereby an accuracy of 13.9 (±6.4) px was achieved. CONCLUSIONS: The developed system enables automated robotic ultrasound examinations of vessels and thus represents an opportunity to reduce radiation exposure and staff workload. The integration of Doppler ultrasound improves the accuracy and robustness of vessel tracking, and could thus contribute to the realization of routine robotic vascular examinations and potential endovascular interventions.

MV-flow in the assessment of fetal vein of Galen aneurysmal malformation.

MV-Flow is a tool enables to acquire spatially and temporally coherent data on low-speed blood flow information. In our case, it allowed a better definition of vein of Galen aneurysmal malformation morphology, venous drainage and feeder vessels than standard ultrasound techniques.