Abdominal ultrasound screening for abdominal manifestations of neurofibromatosis type 1 in the pediatric population: A case series

Introduction: Congenital preauricular lesions, including skin tags, accessory tragi, and pits, have long been associated with renal anomalies due to their shared embryologic origin. Despite the common practice of recommending routine renal ultrasound screening for these patients, the necessity of this protocol has not been conclusively validated. Methods: A retrospective review was conducted at a single institution from 1996 to 2025. A total of 109 patients presenting with congenital preauricular lesions were identified. Data extracted included demographics, comorbidities, syndromic status, hearing assessments, external ear abnormalities, and renal imaging findings. Statistical analyses (chi-square, Fisher's exact test, and one-sample proportion z-tests) were employed to evaluate the prevalence of renal anomalies compared to the general population and explore associations with other clinical factors. Results: Of the 109 patients with congenital preauricular lesions, 69 underwent renal imaging, and 34.8% (24/69) were found to have abnormal findings, significantly higher (P = .0011) than the estimated 1.5% prevalence among the general US population. Hydronephrosis was the most frequent abnormality, while no significant differences emerged across syndromic versus nonsyndromic patients, external ear anomalies, or documented hearing loss. Conclusion: These findings indicate a higher-than-expected rate of renal pathology in patients with congenital preauricular lesions and support a low threshold for imaging regardless of syndromic status or other risk factors. Prospective research is needed to further refine screening recommendations.

Ultrasound (US) is the first-line modality for the assessment of acute appendicitis (AA) in children. Because alternative diagnoses in these patients are common, some centers have expanded US to include screening of the entire abdomen and pelvis. However, insufficient data prevent consensus on whether this practice improves the detection of abdominal pathologies in the differential diagnosis for AA. To determine whether comprehensive US screening of the abdomen/pelvis improves the detection rate of abdominal pathologies among children presenting with symptoms consistent with AA, and to guide optimization of scanning protocols using historical data. Children who received comprehensive abdominal screening and with signs and symptoms consistent with AA were retrospectively and consecutively sampled from a tertiary care teaching hospital. US findings were documented and graded for clinical significance by three pediatric radiologists. A one-tailed test of proportions tested the hypothesis that comprehensive abdominal screening meaningfully (5%) increases the proportion of clinically significant screening findings when compared to a focused assessment of the appendix. Optimization modeling was then used to identify the organ systems with the highest diagnostic yield in this context. Of 202 children (mean age 11.0 ± 4.3) assessed for AA, clinically relevant and urgent incidental findings were found in 30 (15%, p < 0.01). The most clinically relevant findings included ovarian cysts, colitis, and complex fluid collections. Comprehensive US screening significantly improves the detection of relevant abdominal pathologies in children assessed for AA. Historical data suggest an optimized protocol should include the ovaries, the peritoneum/mesentery, and large and small bowel at minimum. Question Does comprehensive abdominal and pelvic screening with ultrasound (US) improve the detection of clinically relevant abdominal pathologies in the differential diagnosis for acute appendicitis (AA)? Findings Clinically relevant and urgent incidental findings were found in 30 (15%, p < 0.01) cases, most often within the ovaries, bowel, and peritoneum/mesentery. Clinical relevance This study helps to inform the implementation of screening protocols in children with abdominal pain to improve patient care and clinical efficiency.

Supplemental ultrasound screening lowers advanced breast cancers.

Cumulative incidence of advanced breast cancer in women aged 40-49 years in the Japan Strategic Anti-cancer Randomised Trial (J-START) of adjunctive ultrasonography: a prespecified secondary analysis.

Ruptured abdominal aortic aneurysms (AAA) carry a mortality rate as high as 80% . Early detection through a screening ultrasound can lead to a large mortality reduction. Point-of-care ultrasound (POCUS) has preliminary data suggesting it is as accurate as hospital-based ultrasounds performed by a sonographer. This validation study investigated the relative concordance of family physicians using POCUS to determine aortic diameter compared with hospital-based ultrasound studies. The study was a cross-sectional, multi-observation study conducted at 3 office practices. Five family physicians with varying degrees of training and experience utilized various ultrasound machines to measure maximal aortic diameter at the proximal, mid, and distal aorta. Hospital-based ultrasound or Computed Tomography (CT) served as the validation scan. Pairwise comparisons were made, with statistical testing for difference using the T-TEST command with the PAIRS subcommand. Forty-four independent observations were completed by the 5 physicians on the 18 patients (n = 18). The mean difference between the POCUS and validation scans was 0.2 cm (95% CI -1.10 to 0.40). The family physicians generally underestimated the aortic diameter. The proximal aorta had the largest mean difference in aortic size (0.23 cm; P = .003). Type of ultrasound device used, the width of the largest aortic segment, and low patient body mass index had significant relations. This small study found data suggesting that family physicians with variable POCUS experience can accurately perform AAA screening in the ambulatory setting with either handheld or cart-based POCUS machines.

The aim of this study was to compare fetal pancreas size at second trimester ultrasound screening of growth-restricted and normal weight fetuses. One hundred sixty-six fetuses between 18 + 0 and 21 + 6weeks of gestation were included in this retrospective study. 83 fetuses with a birth weight below the 10th centile were included in the study group which was further subdivided into two subgroups depending on the presence (subgroup 1) or absence (subgroup 2) of prenatal signs of fetal growth restriction. The control group consisted of 83 normal fetuses matched for sex and gestational age at examination. The pancreatic diameter (PD) was measured in a standard 2D plane of the fetal abdomen. Statistical analyses comprised descriptive statistics, reliability testing, and multivariable modelling to explore group differences and covariate effects on pancreatic diameter. The diameter of the pancreas was increased in the LBW group compared to the control group [3.7mm vs. 3.1mm (p < 0.001)]. The ratio of abdominal circumference (AC) to pancreatic diameter was significantly smaller in the LBW group [41.51 vs. 50.62 (p < 0.001)]. The result was consistent in the subgroup analysis. The difference of the median PD and ratio of AC/PD is greatest in subgroup 1 compared to the control group [PD: 4.2mm vs. 3.1mm (p < 0.001) and AC/PD-ratio 35.33 vs. 51.88 (p < 0.001)]. The diameter of the fetal pancreas, as measured in this study, is a valuable parameter for the detection of small for gestational age and growth-restricted fetuses. Further studies are needed to further validate our results and their implication for clinical decision-making.

Hydronephrosis, commonly detected during second trimester ultrasound screenings, can signal underlying renal abnormalities. In 2018, Sweden introduced a national guideline recommending follow-up for fetal renal pelves with an anteroposterior diameter (APD) ≥6 mm at the second trimester ultrasound. This study evaluates the impact of the guideline by assessing the incidence and resolution of hydronephrosis and other renal abnormalities. Secondary outcomes included postnatal renal function, frequency of febrile urinary tract infections (UTI), and the need for surgical intervention before the age of 2. This prospective cohort study included fetuses diagnosed with hydronephrosis or other renal abnormalities during second trimester ultrasounds between November 2019 and October 2022. Maternal and child characteristics were compared with data from the Swedish Pregnancy Register. Pre- and postnatal outcomes up to 2 years of age were assessed for fetuses detected antenatally. Outcomes were compared to children diagnosed postnatally within the first 2 years of life and not identified prenatally. Over 3 years, 31 094 second trimester ultrasounds were performed. Hydronephrosis or other renal anomalies were identified in 0.5% (n = 155); approximately 40% resolved by week 32, and seven additional third-trimester detections brought the total number of antenatal cases to 162. By age 2, only 42% had persistent renal abnormalities. A retrospective ICD-10 review identified 45 additional children diagnosed postnatally following symptoms before age 2, yielding an antenatal detection rate of 78.3% (162/207). Baseline demographics were similar between antenatal and postnatal groups and matched those in the Swedish Pregnancy Register. Antenatally detected cases showed diverse anomalies-primarily multicystic dysplastic kidney, duplex kidney, pelviureteric junction obstruction, and vesicoureteral reflux (VUR)-whereas postnatally detected cases were predominantly VUR. Febrile UTI requiring admission occurred in 11.8% of antenatal versus 71.7% of postnatal children (p < 0.0001); surgery rates were similar between groups. The centralized structure of care enabled a comprehensive, population-based cohort with near-complete follow-up. The detection rate of hydronephrosis during second trimester ultrasound is high, reaching ~80%. Given the high rate of spontaneous resolution, the national guideline threshold (APD ≥6 mm) appears to strike a reasonable balance between sensitivity and clinical practicality.

To characterize the sonographic features of fetal ganglionic eminence (GE) cysts diagnosed during the late first and early second trimesters, assess their association with additional brain and extracranial malformations, investigate their genetic etiologies and evaluate fetal outcomes. This retrospective, multicenter case series included fetuses with a diagnosis of GE cyst, following referral for targeted transvaginal ultrasound examination, before 23 + 0 weeks' gestation at one of nine medical centers across eight countries between January 2015 and April 2023. All fetuses had been referred after either the first-trimester ultrasound screening examination or an early second-trimester anatomical scan diagnosed a GE cyst or raised suspicion of a cystic brain anomaly. All ultrasound images and three-dimensional ultrasound volumes for each case were retrieved and reviewed to identify brain and extracranial anomalies. Associated brain anomalies were classified into: cerebral midline; hemispheric parenchyma and lamination; lateral ventricles; sulcation pattern; and midbrain-hindbrain abnormalities. Genetic evaluations included chromosomal microarray analysis, exome sequencing and/or whole-genome sequencing, when available. Pregnancy outcomes and postnatal or autopsy data were reviewed when available. In total, 25 fetuses with a diagnosis of GE cyst were included in the study. Cysts were bilateral in 64.0% of cases. In 36.0% of cases, the diagnosis was made between 11 + 3 and 13 + 6 weeks' gestation. Additional brain abnormalities were identified in 18 of the 22 (81.8%) cases in which these were assessed. These included midline anomalies in 72.2% of those with additional brain abnormalities, hemispheric abnormalities in 77.8%, abnormalities of the lateral ventricles in 55.6%, midbrain-hindbrain abnormalities in 72.2% and sulcation abnormalities in 55.6%. Extracranial anomalies were present in 17/25 (68.0%) fetuses, of which fetal growth restriction was observed in 35.3%. Genetic testing revealed pathogenic or likely pathogenic variants in 70.6% of the 17 cases tested, predominantly affecting mitochondrial functions. The pregnancy was terminated in 64.0% of cases and the fetus was liveborn in 32.0%; one case was lost to follow-up during pregnancy. Of the seven surviving neonates with follow-up, five (71.4%) experienced adverse outcomes. Four of the 25 fetuses were initially diagnosed with an isolated unilateral GE cyst. In three of these cases, the cyst regressed and transformed into a GE enlargement, though their clinical courses differed: two cases developed growth restriction, of which one also had a postnatally repaired ventricular septal defect and the other a short femur length, and the third case had additional extracranial findings. In the fourth case, the cyst resolved completely, with an apparently normal brain observed at follow-up fetal magnetic resonance imaging. Late first- or early second-trimester suspicion of GE cysts should trigger a transvaginal neurosonographic examination. The presence of early GE cysts appears to be associated with additional severe brain and extracranial anomalies, including fetal growth restriction. Comprehensive genetic testing is crucial for identifying underlying etiologies, which are often linked to mitochondrial dysfunction. © 2026 International Society of Ultrasound in Obstetrics and Gynecology.

Congenital hip dislocation represents the most severe form of developmental dysplasia of the hip (DDH) and, if left untreated, it leads to permanent functional impairment. Since the nationwide implementation of ultrasound screening in Germany in 1996, the condition can be detected and managed early on. The primary goal of treatment is astable concentric reduction of the femoral head to allow normal acetabular development. In irreducible hips, operative reduction and additional corrective osteotomies may be required. Early diagnosis, standardized treatment protocols, and close follow-up are essential to achieve optimal long-term outcomes.

Aims: Most published material about echocardiographic reference values includes healthy individuals up to the ages of 60-70, but values for older individuals are rare to come across. The overall aim of this study is to develop echocardiographic reference values to better understand the structure and function of the heart for people above 80 years old. The current manuscript describes the motivations and methods used in the present research study. Materials and Methods: The Octogenarian Population Ultrasound Screening (OctoPUS) study was conducted at Östersunds Hospital, Sweden. The study population consisted of 475 individuals recruited either through an advertisement or from the group of individuals without known cardiovascular diseases that were referred to echocardiographic examination for other reasons. The study participants underwent in a simultaneous manner a standard transthoracic two-dimensional echocardiography that included myocardial strain imaging and a three-dimensional echocardiography. Discussion: The results of the present study on known and new echocardiographic variables will focus on people above 80 years old or elderly individuals. Conclusions: The OctoPUS study will contribute to a better understanding of the effects of aging on cardiac function in the cardiovascular healthy general population.

Menstrual disorders are among the most common complaints in general practice and have a significant impact on quality of life, work, and well-being, yet they often remain under-recognised. The general practitioner plays a key role in identification, diagnosis, and management. Distinguishing physiological variation from pathology is not always straightforward. Diagnostic work-up is based on history-taking, a menstrual calendar, ultrasound, and, where indicated, haemoglobin/ferritin and coagulation screening. First-line treatment includes hormonal contraception (combined oral contraceptive pill, progestogen-only preparations, hormonal intrauterine device), tranexamic acid, and NSAIDs. Referral to secondary care is warranted when medical treatment fails, when structural uterine abnormalities are suspected, or in cases of severe anaemia. In secondary care, both pharmacological and minimally invasive options are available.

Many surgeons have adopted chemoprophylaxis in an effort to reduce VTE risk. However, the efficacy of routine anticoagulation has been challenged. Whether chemoprophylaxis raises the risk of bleeding has been the subject of debate. This review was undertaken to evaluate the efficacy of this method and the bleeding risk. In accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, the literature was reviewed for publications reporting series of at least 100 abdominoplasties published from 2012 to 2025. The incidences of VTE and hematomas were tabulated. The quality of evidence was evaluated using Methodological Index for Non-Randomized Studies (MINORS) scores. Twenty-four publications were identified, comprising 9502 patients. All studies were retrospective, with data heterogeneity. Seventeen studies (71%) routinely used chemoprophylaxis. The overall VTE risk was 0.3% in studies using chemoprophylaxis versus 0.5% in studies not using anticoagulation (difference not significant). The hematoma rate was 4.7% for anticoagulated patients versus 0.6% for nonanticoagulated patients. The difference was highly significant (P = 0). Blood transfusions were more likely in patients receiving chemoprophylaxis (P < 0.05). Only 1 study incorporated routine Doppler ultrasound screening. Most studies (15/24, 63%) reported using sequential compression devices (SCDs). The overall VTE risk among pooled patients treated with SCDs was 0.9% versus 0.5% for patients treated without SCDs. The difference was significant (P = 0.04). Some plastic surgeons have been wary of off-label chemoprophylaxis in plastic surgery patients, concerned about its efficacy and the potential for increased bleeding. The data do not show a significant treatment benefit in abdominoplasty patients. The evidence of an increased bleeding risk appears conclusive. The unexpected finding of more, not less, VTEs among patients treated with SCDs challenges the efficacy of this common practice. Ultrasound screening allows early detection of clinical and subclinical VTEs, and anticoagulation of affected patients. No significant benefit derives from off-label chemoprophylaxis for VTE reduction in abdominoplasty patients. The risk of bleeding is significantly increased. SCDs appear to be of no benefit. An alternative method, using ultrasound screening, total intravenous anesthesia, and no chemoprophylaxis is safe and effective.

Ultrasound guidance improves the success rate and efficiency of radial arterial catheterisation (RAC). However, the procedure remains more challenging in obese patients, in whom excess subcutaneous tissue can impair anatomical visualisation. Additionally, frequent head shifts between the procedural site and ultrasound screen usually increase procedural complexity, prolong the procedural time and adversely affect both patient comfort and clinician performance. Smart glasses that project real-time ultrasound images directly into the clinician's field of view offer a potential solution. The study aimed to evaluate whether the use of smart glasses improves the efficiency of ultrasound-guided RAC in obese patients. In this prospective, single-centre, randomised controlled trial, a total of 176 eligible obese patients (body mass index ≥30 kg/m²) requiring RAC for perioperative monitoring will be enrolled. Participants will be randomly assigned in a 1:1 ratio to either the control group, receiving conventional ultrasound-guided RAC, or the smart-glasses group, undergoing ultrasound-guided RAC with real-time image display and needle-tracking assistance via smart glasses. The primary outcome is the first-attempt success rate. Secondary outcomes include the second-attempt success rate, time to successful catheterisation within the first and second attempts, overall procedural time, overall number of arterial catheterisation attempts; ultrasound scanning time, number of probe repositionings and needle redirections; incidence of RAC-related complications, and satisfaction scores of both patients and clinicians. Statistical analyses will be performed using Statistical Package for the Social Sciences (SPSS) and GraphPad Prism. This study will be conducted in accordance with the principles of the Declaration of Helsinki. Written informed consent will be obtained from all participants before enrolment. The study protocol has been reviewed and approved by the Medical Research Ethics Committee of the Second Affiliated Hospital of Anhui Medical University. This study has been prospectively registered at Chinese Clinical Trial Registry. Study results will be disseminated through presentations at scientific conferences and publication in peer-reviewed scientific journals. ChiCTR2500108023.

Optimizing Abdominal Aortic Aneurysm Imaging to Improve Access, Clinical Utility, and Value-Based Medicine.

To determine the discriminatory capacity of maternal ophthalmic artery (OA) Doppler parameters at 18-24 weeks of gestation for predicting pre-eclampsia (PE) in a south Indian population and to compare its predictive ability with known markers of pre-eclampsia like mean arterial pressure (MAP) and uterine artery pulsatility index (UtA-PI). This was a single-center prospective observational study of normotensive pregnant women presenting for routine ultrasound screening between 18 and 24 weeks of gestation. OA and UtA Doppler were performed on all enrolled participants who were followed up for subsequent development of PE. Detection rates (DR) at 10% false-positive rates (FPR) and the area under receiver operator characteristic (AUROC) curves were determined. The predictive ability of various OA and UtA Doppler indices was assessed in a multivariate regression model. The study included 408 pregnant women and 15 (3.68%, 95% CI: 2.24-5.97) of these participants subsequently developed PE. The OA peak systolic velocity (PSV) ratio was significantly associated with PE (P = .03) in the multivariate regression analysis. The mean OA PSV ratio had a 93.3% DR for a 10% FPR with AUROC of 0.98 (95% CI: 0.96-1) while the mean UtA-PI had a 67% DR for a 10% FPR with AUROC of 0.90 (95% CI: 0.86-0.95) in the prediction of PE. The OA PSV ratio was found to be superior to UtA-PI in the prediction of PE between 18 and 24 weeks of gestation, and this may be incorporated into routine diagnostic ultrasound, but larger studies are needed to validate this finding.

Developmental dysplasia of the hip (DDH) is a major cause of long-term disability if not detected early. Ultrasound has become a valuable screening tool for evaluating hip development in infants. This descriptive cross-sectional study included 210 infants aged 30–100 days screened between April and August 2025 at a tertiary hospital in Veracruz, Mexico. Hip ultrasound was performed using the Graf classification method. Most hips were classified as Graf type I (71.9%), while 28.1% were Graf type IIa. Breech presentation was the only risk factor significantly associated with hip immaturity (p = 0.024). Ultrasound screening identified clinically silent hip immaturity, supporting its value as an early screening tool.

Objective : to improve the diagnosis and treatment of urethral pathologies in boys through transurethral resection of the urethral valve and urethral cysts with a holmium laser. Materials and methods : this article describes a clinical case of two boys with rare forms of the urethral valve and urethral cyst, which caused urinary dysfunction and urinary tract infection. One child had an anterior urethral valve accompanied by an anorectal malformation. The latter was managed with proctoplasty. Results : at 3-month follow-up, all clinical manifestations had resolved and parents reported no complaints. Voiding normalized and signs of urinary tract infection resolved. No evidence of urethral stricture was detected. Conclusion : an anterior urethral valve variant that divides the urethral lumen into two channels is extremely rare. An anterior urethral cyst that contributes to bladder outlet obstruction is also uncommon Timely diagnosis and endoscopic elimination of the valve and cyst can prevent progression of urinary tract obstruction. These observations support the importance of antenatal ultrasound screening and early postnatal evaluation for congenital lower urinary tract obstruction.

Introduction. Late preterm spontaneous births (LPSB) constitute up to 75% of all preterm deliveries. However, current screening algorithms, demonstrate critically low sensitivity for predicting this specific subgroup, leaving most at-risk pregnancies undetected. Aim. To develop and evaluate a prognostic model for LPSB based on a pathophysiologically grounded grouping of risk factors, incorporating cervical length measurement during second-trimester ultrasound screening. Materials and methods. A retrospective analysis of 250 pregnant women (125 with LPSB, 125 with term births). Four predictors were assessed: adverse obstetric-gynecological history (AOGH), structural defects of the cervix (SDC), infectious-inflammatory conditions (IIC), and cervical canal length (CCL) measured transvaginally at 180–2066 weeks. The model was constructed using binary logistic regression. Predictive performance was evaluated via ROC analysis, sensitivity, specificity, and Youden’s index. R esults . Independent predictors of LPSB included: IIC (aOR = 28.284; p &lt; 0.001), SDC (aOR = 3.320; p = 0.016), and CCL (aOR = 0.648 per 1 mm increase; p &lt; 0.001). AOGH lost statistical significance in the multivariate model (p = 0.949). The model achieved an AUC of 0.956; at a cutoff of 0.563, both sensitivity and specificity reached 91.2%. Conclusions. The proposed model enables highly accurate prediction of LPSB as early as the second trimester, significantly outperforming existing clinical tools. An integrated online calculator facilitates implementation into routine antenatal care, promoting timely preventive interventions and reducing neonatal morbidity risks.

Severe microcephaly, or head circumference at least 3 standard deviations below the mean for age and sex, is a rare condition with diverse etiology, making diagnosis challenging. Following the 2015 to 2016 Zika virus outbreak, surveillance studies in Australia, Canada, New Zealand, and the United Kingdom and Ireland were conducted to monitor severe microcephaly. We describe the etiology, clinical features, and diagnostic investigations of severe microcephaly among children aged younger than 1year. We pooled reports of patients with severe microcephaly detected through 4 national active surveillance studies, through the International Network of Paediatric Surveillance Units. Incident cases were reported voluntarily between June 2016 and October 2018 by networks of pediatricians totaling more than 8000 members. Etiology was categorized as genetic (confirmed/suspected), acquired (infection, ischemia/hypoxia, prenatal alcohol exposure, placental insufficiency), or unknown. Anonymized data were pooled and analyzed using descriptive statistics. Overall, the cases of 118 patients with severe microcephaly were analyzed, including 59 from the United Kingdom and Ireland, 34 from Canada, and 25 from Australia (n < 5 cases from New Zealand were not analyzed). Median age at diagnosis was 17days (IQR 1-119), and mean head circumference-for-age Z-score was -4.0 (SD 1.1). Genetic causes were determined for 50% (n = 59) vs 18% acquired (n = 21) and 32% unknown (n = 38). Common investigations included brain magnetic resonance imaging (70%), DNA microarray (69%), brain ultrasonography (53%), and cytomegalovirus screening (48%). At least one-half of severe microcephaly cases are attributable to genetic causes. One-third had unknown etiology, highlighting a need for a systematic approach to diagnostic investigation, including genomic sequencing and brain imaging for all children with severe microcephaly.