Ultrasound Screening Research Articles

Urogenital schistosomiasis among school children in northwestern Tanzania: Prevalence, intensity of infection, associated factors, and pattern of urinary tract morbidities

BackgroundThe planning and implementation of intervention measures against schistosomiasis, particularly mass administration, require knowledge of the current status of the infection. This is important for monitoring the impact of the intervention on disease indicators such as a decline in infection prevalence, intensity of infection, and urogenital morbidities. Following repeated rounds of mass treatment in northwestern Tanzania, the epidemiology of urogenital schistosomiasis has changed; thus, for the effective planning and allocation of resources, it is important to understand the current status of the disease in the targeted groups. Therefore, the objective of the current study was to determine the prevalence, intensity, and associated factors of Schistosoma haematobium infection and urinary tract morbidities in school-aged children from northwestern Tanzania. Materials and methodsAn analytical cross-sectional study was conducted among schoolchildren aged 5–17 years between November and December 2022. A single urine sample was collected from each child and examined for the presence of S. haematobium eggs and microhaematuria using a urine filtration technique and a urine reagent dipstick. Each child underwent an ultrasonographic examination of the urinary tract according to the World Health Organization standards (Niamey protocol) to detect S. haematobium-related morbidities. ResultsOf the 3225 participants, 54.2 % were female, and the mean age was 10.9 (±1.89) years. The overall prevalence of S. haematobium was 17.7 % (95 % CI: 16.4–19.1, 572/3225). Of the 572 infected children, 81.8 % (95 % CI: 78.4–84.9, 468/572) had light-intensity infections, and 18.2 % (95 % CI: 14.9–21.4, 104/572) had heavy-intensity infections. The prevalence of macro- and microhaematuria was 2.4 % (95 % CI: 1.9–3) and 18.5 % (95 % CI: 17.2–19.8), respectively. Age (aOR: 1.2, 95 % CI: 1.0–1.5), district of residence (aOR: 2.1, 95 % CI: 1.7–2.7) and history of schistosomiasis (aOR: 2.5, 95 % CI: 1.9–3.2) were significantly associated with urinary schistosomiasis infection. However, swallowing praziquantel during the last mass drug administration was protective (aOR 0.6, 95 % CI: 0.4–0.8). The overall prevalence of ultrasound-detectable urinary tract abnormalities was 9.9 % (95 % CI: 8.9–11.1, 299/2994) and included urinary bladder abnormalities in 9.9 % (95 % CI: 8.8–11, 297/2994), ureter abnormalities in 0.2 % (95 % CI: 0.07–0.4, 6/2994), and kidney abnormalities in 0.2 % (95 % CI: 0.09–0.4, 7/2994). Calcification of the urinary bladder was observed in 0.9 % (95 % CI: 0.6–1.3, 29/2994) of the examined children. ConclusionsSchistosoma haematobium infection is still prevalent among schoolchildren in the study setting, and it causes substantial morbidity at an early age. Transmission is driven by the age of the child, district of residence, and history of schistosomiasis. However, swallowing praziquantel in rounds of mass drug administration reduces transmission. Urogenital schistosomiasis infection is associated with haematuria and ultrasound-detectable morbidities. In S. haematobium endemic areas, routine ultrasound screening for urinary tract morbidities could be considered in annual mass treatment programmes for early management. Special attention should be given to children with proteinuria, microhaematuria, and heavy infection intensities.

Obstructive hydrocephalus due to developmental venous anomalies: a pediatric imaging case series.

Developmental venous anomalies are a rare cause of obstructive hydrocephalus in the pediatric population. In this study, we present the most extensive case series of DVA-induced obstructive hydrocephalus in the pediatric population. We thoroughly describe the imaging findings related to this uncommon entity and comprehensively discuss its clinical presentation and management strategies. The goal is to alert pediatric neuroradiologists to consider this rare condition in the differential diagnosis of hydrocephalus, particularly during prenatal screening or in pediatric cases. The electronic patient record systems of 2 tertiary care children's hospitals were reviewed to identify pediatric patients with confirmed DVAs leading to obstructive hydrocephalus. Age at diagnosis, gender, MRI findings (including location of the obstruction), clinical presentation, and symptoms were recorded. Data on treatment and follow-up imaging were also collected. The search yielded 5 cases of pediatric patients with DVA-induced obstructive hydrocephalus. The mean age at diagnosis of the DVA was 2.9 years (range: 0-7 years), and in two cases, ventriculomegaly was diagnosed in utero during prenatal cranial ultrasound screenings. In all patients, the DVA caused stenosis of the aqueduct of Sylvius, and one case presented with multiple DVAs. Although aqueductal stenosis caused by a DVA is rare, it is crucial to consider it in the differential diagnosis of hydrocephalus during prenatal screening or in the pediatric population. Brain MRI, especially post-contrast T1WI, and SWI sequences are particularly valuable for visualizing the typical "caput medusae" appearance of DVAs and detecting associated complications such as hemorrhages.

Increased risk for thoracic and abdominal aortic aneurysm in the relatives of abdominal aorta aneurysm patients

Abstract Introduction Genetic susceptibilities in aneurysm genes are risk factors for developing aneurysms of the aorta. This translates to a high aneurysm prevalence in relatives of aortic aneurysm patients. For relatives of abdominal aorta aneurysm (AAA) patients, guidelines recommend abdominal ultrasound screening for early detection and management, while for relatives of thoracic aorta aneurysm patients (TAA), transthoracic ultrasound of the ascending aorta and aortic root is recommended. Neither of these guidelines are designed to detect aneurysms in the whole aorta. The incidence of TAA in relatives of AAA index-patients is unknown and may determine whether abdominal ultrasound screening is sufficient for relatives of AAA patients or whether whole aorta screening should be recommended. Furthermore, focused screening of high risk relatives of aneurysm patients may improve the yield of aneurysm detection now that population frequencies are declining. Methods Whole aorta non-contrast CTs of relatives of AAA index-patients were collected retrospectively in a tertiary referral (2016 to 2021). Family history and DNA testing of AAA index-patients were used to classify relatives into high genetic risk (familial disease and/or pathogenic/likely pathogenic variant (P/LP) in an aneurysm gene) or unknown genetic risk (no familial disease or no P/LP detected). TAA were defined as ascending diameters ≥ 45mm or descending diameters ≥ 40mm. Thoracic aortic dilatations (TAD) were defined as ascending diameters of 40-45 mm or descending diameters of 35-40 mm. Abdominal diameters ≥30mm were classified as AAA and diameters between 25-29 mm as abdominal dilatations (AAD). References 1-3. Results CT scans (n=301 relatives, 47% male, age 58(50-65)) showed 34% aortic aneurysms and/or dilatations versus 14% in the general population (age adjusted, p<0.001). TAA was 28-times more frequent (2%, p<0001) and AAA 3 times more frequent (8%, p<0.001) than in the general population. Thoracic and abdominal dilatations occurred in 18% and 17% of relatives. Overall, males were 4 times more likely to have an aneurysm than females (p<0.05). Aneurysms and dilatations occurred at the same rate in relatives with or without a family history or a P/LP in an aneurysm gene. These results endorse total aorta screening for relatives of all AAA patients rather than restricting screening to the abdominal aorta. Conclusions Relatives of AAA patients had a high risk for thoracic and abdominal aneurysms as well as dilatations. This indicates that imaging of the whole aorta will improve early detection of aortic aneurysms in relatives both with and without a family history of aneurysms.

Systematic review of clinical effectiveness and safety of abdominal aortic aneurysm screening in men

Abstract Background Abdominal aortic aneurysm (AAA) is characterised by a bulging in the aortic wall. AAA is typically asymptomatic until aneurysm rupture, which is associated with a very high mortality rate (approximately 80%). In the context of an ageing population and increasing life expectancy, innovative approaches to early detection and intervention are needed. The aim of this review was to assess the clinical effectiveness and safety of one-time ultrasound screening for AAA in men. Methods Systematic searches were conducted in electronic databases and grey literature sources. The primary outcomes of interest were AAA-related mortality, AAA rupture, all-cause mortality, rate of surgical repair and safety. The following study designs were included: systematic reviews, randomised controlled trials (RCTs), comparative observational studies and population-based non-comparative observational studies. Results Results from a systematic review by the US Preventive Services Task Force analysed 4 population-based RCTs, showing that one-time population-based screening for AAA in men (≥ 65 years) led to significant reductions in AAA-related mortality (OR = 0.65, 95% CI: 0.57 to 0.74), AAA rupture (OR = 0.61, 95% CI: 0.54 to 0.69) and emergency surgeries (OR = 0.53, 95% CI: 95% CI: 0.44 to 0.64) at 13-15 years follow-up, relative to no screening. Separate to this systematic review an additional 24 studies reported on clinical effectiveness, safety and psychosocial harms of AAA screening. Limited evidence from these studies suggest screening was associated with a reduction in AAA-related mortality and rupture but also transient psychological distress in some cases. Conclusions One-time ultrasound screening in men ≥65 years appears to offer benefits in terms of reducing AAA ruptures and AAA-related mortality, though the balance of benefits and harms requires careful consideration. In an ageing population, AAA screening could be transformative, by reducing mortality and rupture risks. Key messages • One-time ultrasound screening for AAA in older men (≥ 65 years) can reduce AAA-related mortality and rupture. • In the context of an ageing population in Europe, AAA screening could be transformative, but benefits must be weighed against potential risks.

Diagnostic value of prenatal ultrasound screening and analysis of pregnancy outcomes in velamentous umbilical cord insertion

Objective: To explore diagnostic value of prenatal ultrasound screening in velamentous umbilical cord insertion (VCI) and its influence on perinatal outcomes, and to provide theoretical basis for clinical practice. Methods: Fifty-eight pregnant women diagnosed with VCI before or after delivery admitted to the First Affiliated Hospital of Xi'an Jiaotong University were selected from January 2012 to December 2022. The clinical features and perinatal outcomes of 45 women finally with VCI after delivery (VCI group) were retrospectively analyzed, and 225 women with normal umbilical cord attachment were selected as the control group during the same period. Results: (1) Among 58 women, 54 (93.1%, 54/58) were diagnosed with VCI by prenatal ultrasound screening, 4 patients (6.9%, 4/58) were missed; and 13 (22.4%, 13/58) were misdiagnosed. Finally, a total of 45 women were confirmed by postpartum placental examination, and 11 (24.4%,11/45) were combined with vasa previa. (2) There were no differences in age, number of pregnancies, and number of induced abortions between the two groups (all P>0.05). Compared with the control group, the rate of assisted reproductive technology [13.3% (6/45) vs 0.4% (1/225); P<0.01], and twin pregnancy rate [8.9% (4/45) vs 0.4% (1/225); P<0.01] in the VCI group were significant higher. (3) Compared with the control group, the rate of placenta previa, succenturiate placenta, vasa previa, postpartum hemorrhage, prenatal hemorrhage and postpartum intrauterine remainder in the VCI group were significant higher (all P<0.05); there was no significant difference in the incidence of placental abruption, premature rupture of membranes, fetal distress and single umbilical artery between the two groups (all P>0.05). The incidence of fetal structural abnormalities in the VCI group (4.4%, 2/45) was higher than that in the control group (1.3%, 3/225), but there was no significant difference between the two groups (P=0.195). (4) The cesarean section rate [75.0% (33/44) vs 45.1% (101/224); P<0.01], preterm birth rate [29.5% (13/44) vs 5.4% (12/224); P<0.01], rate of small for gestational age [20.5% (9/44) vs 5.4% (12/224); P<0.01] in the VCI group were significant higher. However, neonatal birth weight [(2 928±552) vs (3 353±498) g; P<0.01], and 1-minute Apgar score (median: 10 vs 10; P<0.01) in the VCI group were lower than those in the control group. Conclusions: Prenatal ultrasound screening is an important method to diagnose VCI. VCI is more prone to adverse pregnancy outcomes, such as postpartum hemorrhage, premature delivery, small for gestational age, et al. Its risk factors include twin pregnancy, assisted reproductive technology, placenta previa, and para-placenta.

Temporal Trends in Thyroid Nodule Size on Ultrasonography

In recent years, concern has grown around the overdetection of thyroid cancer. Changes to thyroid nodule risk stratification systems and guidelines were made to improve diagnostic yield. It is not known how these advancements have affected the size of thyroid nodules reported on ultrasonography over time. To evaluate change in reported nodule size since 1990, particularly between studies of thyroid ultrasonography obtained for diagnostic vs screening purposes. The systematic review included original research studies that reported thyroid nodule size in adults undergoing their first thyroid ultrasonography. Excluded studies were those that included patients with known thyroid disease, prior thyroid ultrasonography, nodules identified through other imaging modalities, and/or that had constraints on nodule size and/or characteristics. PubMed, SCOPUS, CENTRAL, and CINAHL were reviewed from January 1990 to March 2021. Study characteristics, patient demographic characteristics, nodule size, and ultrasonography techniques were independently extracted by multiple observers. The size of thyroid nodules reported via ultrasonography over time. Mixed-effects meta-regression models were used to evaluate mean nodule size (1) overall, (2) in studies that used ultrasonography diagnostically, and (3) in studies that used ultrasonography for screening. A total of 11 963 patients were included; the mean (SD) age was 47.6 (5.2) years. A total of 1097 studies were identified; of these, 395 full-text articles were assessed, and 18 studies met inclusion criteria. All were done at academic institutions. Altogether, these studies had 11 963 patients who underwent a first thyroid ultrasonography. Reported mean nodule size increased 0.52 mm each year from 1990 to 2021 (95% CI, 0.2-0.81). Diagnostic subgroup mean nodule size increased 0.57 mm each year from 1990 to 2021 (95% CI, 0.21-0.93). Screening subgroup mean nodule size decreased by 0.23 mm each year up to 2012 (95% CI, -0.40 to -0.07). The results of this systematic review and meta-analysis suggest that thyroid nodule size reported on diagnostic ultrasonography has increased over time in conjunction with changes in risk stratification systems, nodule guidelines, and radiology practice patterns. Conversely, a decrease in size reported in asymptomatic, ultrasonography-screened populations was observed. Findings from screening studies show that subcentimeter nodules are prevalent and easily identified with ultrasonography, but clinical relevance is questionable. Altogether, these results may provide insight into how ultrasonography guidelines and practice patterns have changed thyroid nodule reporting over time and can inform future guidelines and policies associated with thyroid nodule management.

Results of the cancer screening program in urban areas in Shaanxi province of China, 2019-2020

Objective: Analyze the cancer screening status of the cancer screening program in urban areas in Shaanxi province in 2019-2020. Methods: The early diagnosis and early treatment project for urban cancers carried out high-risk population screening for 5 types of high-incidence malignant tumors (breast cancer, lung cancer, upper gastrointestinal cancer, liver cancer, and colorectal cancer) in urban areas. Three prefecture-level cities in Shaanxi province with a population of over 1 million (Xi'an, Baoji, and Shangluo) were selected, and 4 communities with a relatively good working foundation were selected in each city. The general population aged 45-74 years was surveyed on the principles of informed consent and voluntariness, and high-risk groups identified through the questionnaire were further subjected to free endoscopy, ultrasound, CT, and other clinical screenings. The high-risk rates, screening compliance rates, and positive detection rates of the above 5 types of malignant tumors were analyzed. Results: A total of 19 632 people completed the survey effectively, with the proportion of male participants (40.0%) lower than that of females (60.0%). A total of 10 102 high-risk groups were identified, with an initial screening high-risk rate of 51.5%, and the high-risk rates for the 5 types of cancers were 24.1% for breast cancer, 28.6% for lung cancer, 9.1% for upper gastrointestinal cancer, 4.0% for liver cancer, and 20.0% for colorectal cancer. Among the 14 960 person-time initially assessed as high-risk, 5 129 person-time received clinical screening, with a screening compliance rate of 34.3%. The number of people receiving clinical screening and the screening compliance rates for the 5 types of cancers were 1 192 (41.9%) for breast cancer, 2 081 (37.1%) for lung cancer, 574 (32.0%) for upper gastrointestinal cancer, 404 (51.3%) for liver cancer, and 878 (22.3%) for colorectal cancer, with positive detection numbers and rates of 179 (15.0%) for breast, 289 (13.9%) for lung, 9 (1.6%) for upper gastrointestinal, 14 (3.5%) for suspected liver, and 67 (7.6%) for colorectal, respectively. Conclusion: The cancer screening status of the cancer screening program in urban areas in Shaanxi province is beneficial for the detection of precancerous lesions and early cancer patients, and improving the early diagnosis and treatment rate of patients, but the public participation rate is not high, and the project management model and technical plan need to be further improved.

73 Predictors of neurodevelopmental impairment in extreme preterm infants with unremarkable cranial ultrasound: A Canadian population-based cohort

Abstract Background Extreme preterm infants are at high-risk of brain injury and neurodevelopmental impairment (NDI). Previous studies reported significant NDI (sNDI) in preterm infants with no abnormalities on routine cranial ultrasound screening (CUS), traditionally perceived to have favorable outcomes. Recent data from population-based outlining clinical predictors of sNDI in those infants are lacking. Objectives (1) to describe the incidence, perinatal and neonatal characteristics of NDI and sNDI in a large population-based cohort of extreme preterm infants with unremarkable CUS; (2) to develop a prediction model of sNDI (any of: CP ≥ GMFCS stage 3, Bayley III &amp;lt; 70 in any domain, deafness requiring aids, or bilateral blindness) in those infants. Design/Methods A retrospective review of a national cohort of preterm infants born at &amp;lt;29 weeks’ gestation between April 2009 and December 2018. We included surviving infants with unremarkable routine CUS (no hemorrhage, periventricular leukomalacia or ventricular dilatation) who had neurodevelopmental assessment at 18-24 month corrected age at one of participating centres in the Canadian Neonatal Follow Up Network. We compared the baseline characteristics between infants with no NDI and those with any NDI and sNDI. The population sample was then randomly split into training and testing datasets in 70:30 ratio for prediction model’s development and validation, respectively. Multivariate logistic regression with GEE accounting for clustering within site was used, adjusted for variables with p-value&amp;lt;0.1 using backward selection procedure. The AUC and the diagnostic properties of the model developed using training dataset was then validated in the testing dataset. Results Out of 7463 eligible infants, 4327 (58%) were included. Of those, 2501 (59%) had no NDI and 1736 (41%) had NDI. sNDI accounted for 14% of the cohort and one third of those with NDI. Perinatal and neonatal characteristics of the three groups are shown in Table 1. On internal validation, maternal hypertension, maternal level of education, gestational age, male sex, ROP≥ stage 3 and systemic steroids were predictive of sNDI (Table 2). The prediction model had Sensitivity 0.91, NPV 0.90, and AUC 0.69 (95% CI 0.64-0.73). Conclusion In this national cohort, 2 out of 5 extreme preterm infants with unremarkable CUS had NDI and 1 in 7 had sNDI. The developed prediction model had high sensitivity and NPV, but poor discrimination. The findings of this study can help clinicians to identify at-risk infants who may benefit from early targeted interventions.

Associations Between Clinical Factors and Postoperative Thrombosis in Pediatric Cardiac Surgery Patients: A Single-Center Retrospective Study.

Postoperative thrombosis is a significant complication in pediatric cardiac surgery patients, contributing to morbidity and mortality. Identifying clinical factors associated with thrombosis can improve patient outcomes by guiding early detection and intervention. This study aimed to assess factors associated with postoperative thrombosis or thromboembolism in pediatric patients under 12 months old who underwent surgery for congenital heart disease (CHD). Design, Setting, and Participants: This retrospective cohort study analyzed electronic medical records from pediatric patients admitted to the Pediatric Cardiovascular Intensive Care Unit (PCICU) at the German Paediatric Heart Center, Bonn, between March 1, 2020, and March 1, 2021. A total of 197 children under 12 months old who underwent cardiac surgery were included in the analysis. Thrombosis was diagnosed postoperatively using imaging modalities such as ultrasound, echocardiography, and computed tomography. The primary outcome was the incidence of thrombosis and its association with clinical factors such as age, central venous catheter (CVC) duration, CRP levels, and D-dimer levels. Among 197 patients, the incidence of thrombosis was 8.63%, predominantly venous (70.6%). Initial associations were observed between thrombosis and younger age, lower body weight, higher hematocrit, cyanosis, longer central venous catheter (CVC) use, and elevated C-reactive protein (CRP) and d-dimer levels. Receiver operating characteristic analysis indicated a higher risk in patients with d-dimer levels above 5.47 mg/L. The stepwise multiregression analysis identified longer CVC duration in situ (β = 0.553; p < 0.001), higher CRP levels (β = 0.217; p = 0.022), and younger age at admission (β = -0.254; p = 0.006) as significant predictors of thrombosis. Decision tree analysis identified CVC use longer than 12.5 days and CRP levels above 118.01 mg/L as the most critical risk factors. Postoperative thrombosis is a notable risk in pediatric CHD patients, particularly in neonates. Prolonged CVC use and elevated CRP levels are critical risk factors. Routine monitoring of D-dimer and CRP levels, along with timely sonographic screening, can aid early thrombosis detection and intervention. Further research is warranted to optimize thrombosis prevention strategies in this population.

Transvaginal sonographic screening of abnormal intra-amniotic structure around internal cervical os at 18-21+6 weeks of gestation.

To detect an abnormal intra-amniotic structure around the internal cervical os using transvaginal sonography at 18-21+6 weeks of gestation. In this cohort study, during a 12-month period from July 2022 to June 2023, 395 transvaginal scans were performed for second-trimester cervical-length screening in singleton pregnancies at 18-21+6 weeks of gestation. Nine abnormal intra-amniotic structures (AIAS), 87 low-lying placentas (LLP, second-trimester placenta previa or placental margin within 2 cm from internal cervical os), and 299 controls (not LLP and no abnormal finding around internal cervical os) were diagnosed. Sonographic features of AIAS and delivery outcomes in the three groups were compared. Sonographic features of nine AIAS cases were: two single bands, one single broad band, one multiple bands, one single tubular, and one multiple tubulars. Blood flow was noted in seven cases. Seven AIAS had disappeared by 26 weeks, one was resolved at 34 weeks, and one (vasa previa and parachute placenta) remained until delivery. Incidences of emergency cesarean section, abnormal placenta and umbilical cord, and abnormal deliveries in AIAS were significantly higher than those in LLP and control groups (P = 0.031). Blood losses during delivery in AIAS and LLP groups were significantly greater than in the control group (P = 0.004), but there was no significant difference in blood loss between AIAS and LLP groups. The incidence of AIAS around the internal cervical os in the second trimester was 2.28% (9/395 fetuses). Mid-second-trimester transvaginal sonographic screening for the detection of AIAS around the internal cervical os including vasa previa may be essential to reduce perinatal morbidity.

Teratoid hepatoblastoma with small cell undifferentiated histology in polysplenia patient: a case report

Abstract Introduction/Objective Hepatoblastoma (HB) with teratoid is a uncommon variant of mixed epithelial and mesenchymal components. Conversely, HB with small cell undifferentiated (SCUD) is extremely rare, with only nine documented cases showing retained INI-1 expression in the literature. The prognosis of SCUD remains debatable. In this report, we describe the first case of combined teratoid HB with a SCUD component that preserved INI-1 expression with a favorable outcome. Methods/Case Report A 2-year-old girl with polysplenia syndrome presented with a right liver mass detected during ultrasound screening. The alpha fetoprotein levels were significantly elevated to 148,000. MRI revealed a 7.2 cm lesion, staged as Pre-Treatment Extent 2 (PRETEXT) in the right anterior liver. She underwent cholecystectomy and right hepatectomy. Resection specimen revealed a mixed neoplasm comprising epithelial components (fetal and embryonal) and mesenchymal components. Additionally, notable findings include small cell component and teratoid features, characterized by melanin pigment and neuroectodermal elements. All the neoplastic cells showed reactivity with CD34, reticulin, SALL4, beta-catenin, GPC-3, arginase-1, chromogranin, and glutamine synthetase. Notably, the teratoid area only displayed positivity for CD56 and NSE, while vimentin highlighted capillaries, vessels and focally staining small cells. Furthermore, CK19 highlighted the small cell components and the bile ducts in the background liver. Importantly, INI-1 staining was retained in all tumor cells, including the small cell component. Synaptophysin and Prussian blue were negative in all lesional cells. After a 2-year follow-up, no recurrence was observed. Results (if a Case Study enter NA) NA Conclusion This case underscores the diagnostic challenge posed by small cell undifferentiated (SCUD) hepatoblastoma. Moreover, it contributes to the understanding of this rare variant of hepatoblastoma and suggests a potential favorable prognosis associated with retained INI-1 staining in the SCUD component.

Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.

Branchio-oto-renal (BOR) spectrum disorders are linked to pathogenic variants in the EYA1 gene, presenting significant challenges for prenatal ultrasound screening due to their phenotypic variability and complexity. Understanding these disorders' phenotypic expressions and genetic foundations is crucial. Our study included pregnant women who underwent fetal whole-exome sequencing at the Department of Medical Genetics and Prenatal Diagnosis, The Third Affiliated Hospital of Zhengzhou University, Henan, China between January 2023 and March 2024. We identified a novel EYA1 gene pathogenic variant and conducted a systematic literature review of all reported prenatal cases associated with EYA1-related diseases, focusing on the detectability of these conditions in prenatal ultrasound. Additionally, we systematically reviewed case reports related to the EYA1 gene, emphasizing missense pathogenic variants for functional predictions and locus position analysis. Our research discovered a new pathogenic variant within the EYA1 gene, highlighting the difficulty of detecting BOR spectrum disorder phenotypes through prenatal ultrasound due to their subtle manifestations. We found that amniotic fluid anomalies and cardiac abnormalities are more prevalent in prenatal cases compared to postnatal cases. A critical region within the EYA Homologous Region (eyaHR) was identified, where missense pathogenic variants significantly affect protein stability, indicating a crucial area associated with the severity of phenotypic expression in EYA1 gene-associated disorders. This study enhances the understanding of the genetic landscape of BOR spectrum disorders and suggests that certain phenotypic markers and genetic regions may be pivotal in improving prenatal screening and diagnosis for EYA1-related diseases.

Prevalence of carotid ultrasound screening in survivors of childhood cancer: A report from the Childhood Cancer Survivor Study.

Many childhood cancer survivors are at risk for cardiovascular disease and stroke. The North American Children's Oncology Group long-term follow-up guidelines recommend carotid ultrasound in cancer survivors 10 years after neck radiation therapy (RT) ≥40 Gy. The use of carotid ultrasound in this population has not been described. Survivors of childhood cancer diagnosed 1970-1999 (N=8693) and siblings (N=1989) enrolled in the Childhood Cancer Survivor Study were asked if they had ever had a carotid ultrasound. Prevalence of carotid ultrasound was evaluated. Prevalence ratios (PR) and 95% confidence intervals (CIs) were evaluated in multivariate Poisson regression models. Among participants with no reported cardiovascular condition, prevalence of carotid ultrasound among survivors with RT≥40 Gy to the neck (N=172) was 29.7% (95% CI, 22.5-36.8), significantly higher than those with <40 Gy (prevalence 10.7%; 95% CI, 9.9%-11.4%). Siblings without a cardiovascular condition (N=1621) had the lowest prevalence of carotid ultrasound (4.7%; 95% CI, 3.6%-5.7%). In a multivariable models among survivors with no reported cardiovascular condition and RT≥40 Gy to the neck, those who were over age 50 (vs. 18-49) at follow-up (PR=1.82; 95% CI, 1.09-3.05), with a history of seeing a cancer specialist in the last 2 years (PR=2.58; 95% CI, 1.53-4.33), or having a colonoscopy (PR=2.02; 95% CI, 1.17-3.48) or echocardiogram (PR=6.42; 95% CI, 1.54-26.85) were more likely to have had a carotid ultrasound. Many survivors do not undergo carotid ultrasound despite meeting existing guidelines. Health care delivery features such as having seen a cancer specialist or having other testing are relevant.

Bovine aortic arch: a potential indicator that may not serve in prenatal diagnosis - a study based on fetal anatomy, genetics, and postnatal clinical outcomes

ObjectiveTo investigate the structural abnormalities, genetic results, and postnatal clinical outcomes of fetuses with bovine aortic arch (Bovine Aortic Arch, BAA) to provide a basis for prenatal counseling and management.MethodsA retrospective analysis was conducted on 216 fetuses diagnosed with bovine aortic arch through prenatal ultrasound screening at the First Affiliated Hospital of Anhui Medical University and the No.901 Hospital of the Joint Service of the People’s Liberation Army from January 2019 to February 2023. Their family history of genetic diseases, prenatal screening results, and postnatal follow-up data were collected. The fetuses were divided into an isolated BAA group (n = 192) and a non-isolated BAA group (n = 24). Chromosomal karyotyping and copy number variation (CNV) testing were conducted, and statistical analysis was performed using SPSS 22.0 software.ResultsOf the 216 fetuses with BAA, 192 were isolated BAA (88.89%), and 24 were non-isolated BAA (11.11%). Among the isolated BAA fetuses, only 1 case (0.52%) had chromosomal karyotype and pathogenic CNV abnormalities. Among the non-isolated BAA fetuses, 4 cases (16.67%) had chromosomal or CNV abnormalities, but the overall risk was low. The postnatal outcomes of isolated BAA fetuses were good (99.48%), while 79.17% of non-isolated BAA fetuses had good postnatal outcomes.ConclusionMost BAA fetuses are isolated, with a very low incidence of chromosomal abnormalities and pathogenic CNVs, and have good postnatal outcomes. The clinical value of isolated BAA is limited, and invasive prenatal diagnosis is not recommended for low-risk populations. Prenatal screening should focus on the risk of concurrent severe structural anomalies and chromosomal abnormalities.

Prenatal diagnosis and genetic analysis of two fetuses with Wolf-Hirschhorn syndrome

To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS). A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People's Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). This study was approved by the Qingyuan People's Hospital (Ethics No. IRB-2022-064). Prenatal ultrasound examination of the two fetuses had consistently revealed WHS-associated traits including intrauterine growth restriction (IUGR), craniofacial abnormalities and cardiovascular anomalies. Karyotyping analysis suggested that both fetuses had harbored cryptic chromosomal translocations involving partial deletion of 4p. And parental verification revealed that it was de novo for fetus 1 and paternal for fetus 2. CMA has confirmed that fetus 1 had an approximately 8.7 Mb deletion at 4p16.3p16.1 and a 6.8 Mb duplication at 8p23.1p23.1, whilst fetus 2 had a 20.05 Mb deletion at 4p16.3p15.31 and a 7.66 Mb duplication at 9p24.3p24.1. The karyotype of fetus 1 was determined as 46,XN,der(4)t(4;8)(p16.1;p23.1)dn.arr[hg19]4p16.3p16.1(68345_8721580)×1, 8p23.3p23.1(158048_6933745)×3, and that of fetus 2 was determined as 46,XN,der(4)t(4;9)(p15.3;p24)pat.arr[hg19]4p16.3p15.31(68345_20116061)×1, 9p24.3p24.1(208454_7868292)×3. The 4p deletion is probably the main cause for the WHS phenotype in both fetuses. WHS should be suspected when IUGR, renal anomalies, craniofacial and cardiovascular abnormalities are detected upon prenatal ultrasound screening.

8385 Coexistence of Parathyroid Adenoma &amp; Papillary Thyroid Cancer: A Rare Case Report

Abstract Disclosure: K. Dash: None. S. Verma: None. U. Ayyagari: None. M. Roy: None. S. Rathore: None. Prevalence of primary hyperparathyroidism (pHPT) ranges from 0.1- 0.4% in general population. Nodular thyroid disease is an increasingly common incidental diagnosis due to widespread use of ultrasound. Papillary thyroid cancer (PTC) is the most common cancer of thyroid gland. Here we report a 53 year old post-menopausal woman presented with weight loss, generalised body aches, arthralgia, myalgia, and proximal muscle weakness. She was hypertensive and clinically euthyroid. Physical examination revealed generalized tenderness all over the body but no thyroid or parathyroid nodules on palpation. Biochemical evaluation showed hypercalcemia 12.1mg/dl (8.4-10.2mg/dl), PTH&amp;gt;2000pg/ml (14-72pg/ml), ALP-1855 U/L (40–125 U/L), decreased phosphorous of 2.4mg/dl (25-4.6 mg/dl), and vitamin-D of 46 nmol/L ( 75-250 nmol/L). USG neck revealed a heterogeneous lesion at the lower pole of right lobe of thyroid gland &amp; two small hypoechoic nodules seen in the right lobe of thyroid gland. FNAC from nodules was inconclusive. USG abdomen revealed nephrocalcinosis. DEXA scan showed severe osteoporosis. Tc99mSestamibi SPECT-CT showed uptake at lower pole of right lobe of thyroid. On exploration, two nodules were palpated in the right lobe of the thyroid and simultaneous right hemi-thyroidectomy was performed. Histopathologic report confirmed parathyroid adenoma (figure 1) as well as presence of carcinoma in the two nodules: one was a papillary thyroid cancer (Classic variant) and the other a follicular variant of papillary thyroid carcinoma (figure 2). Margins were negative for malignancy. She was treated with levothyroxine to maintain TSH &amp;lt;0.1U/L and followed up with annual ultrasound screening. At 2 year follow up, patient was symptom free with improved T score on DEXA scan and no nodule over residual thyroid gland. Discussion: Co-existence of pHPT and PTC ranges from 2.3-4.3%. The use of ultrasound neck as a routine imaging modality for localisation of parathyroid adenoma allows detection of thyroid nodules. Benign and/or malignant thyroid nodules are commonly seen in patients with pHPT and this can range from 2-15%. Women have higher risk for co-existence. The relationship between the two diseases is thought to be incidental. Some authors have suggested possible role of shared genes, embryological factors, transcription factors, vitamin-D deficiency and hyperparathyroidism that could lead to activation of angiogenic factors and carcinogenesis. Fig. 1. Parathyroid adenoma. (a)Tc99m sestamibi scan showing right inferior parathyroid adenoma (b) Parathyroid adenoma (400x high power) comprising predominantly of Chief cells with mild pleomorphism. Fig. 2. Histopathology of PTC. (a)Papillary Carcinoma thyroid. 10xPhotomicrograph showing areas of calcification. (b) Papillary Carcinoma thyroid. Photomicrograph showing thyroid with papillary pattern with areas of infiltration. Presentation: 6/1/2024

7812 Community Practice Setting Experience in Evaluation of Incidental Thyroid Nodules

Abstract Disclosure: N. Abate: None. H. Rhodes: None. M. Horlavadi: None. B. Adams-Huet: None. M. Chandalia: Advisory Board Member; Self; Boehringer Ingelheim. Speaker; Self; Boehringer Ingelheim, Eli Lilly &amp; Company, Novo Nordisk. Background: There is a significant increase in detection of incidental thyroid nodules due to increase in routine screening ultrasounds at church, workplace, and health fairs, increase in routine ultrasound in primary care clinics and incidental finding of thyroid nodule during carotid artery ultrasound. These patients are then referred for thyroid nodule fine needle aspiration biopsy. Aim of this study was to evaluate real world data in frequency of thyroid cancer in patients referred for incidental thyroid nodule to a nonacademic Endocrinology clinic utilizing centralized collection of cytology and molecular analysis. Method: Medical records were reviewed for consecutive FNA of incidental thyroid nodule in an Endocrinology clinic in greater Houston from 2021 to 2023. FNA was performed in patients selected based on ACR TI-RADS classification. Patients with Bethesda score of 3 or more had molecular testing with Thyroseq performed. Patients with intermediate or high probability of cancer on Thyroseq as well as Patients with Bethesda 4 and 5 on cytopathology were referred for surgery. Surgical pathology was obtained in patients who underwent surgery. Data was tabulated and analyzed using SAS. Results: A total of 304 subjects, 267 Female and 37 males, age 57 ± 13, nodule size 2.69 ± 1.4 (mean ± SD), had thyroid nodule FNA between 2021 and 2023. Of these FNA, 23 (7.5%) sample collections were insufficient, 233 (77.3%) were benign (Bethesda 2), 46 (15%) were Atypia of undetermined significance or Suspicious for malignancy. Of those subjects with Bethesda 3 or higher, 36 patients had molecular testing by Thyroseq Method. Fifteen patients had intermediate and high risk finding on Thyroseq. Thirty-four subjects had surgery and 8 patients had malignancy on surgical pathology. One patient was identified as Medullary Thyroid cancer on Thyroseq, confirmed by surgery. Frequency of malignancy in incidentally detected thyroid nodule in the whole group was 2.6%, those with Bethesda 3 and more was 17.4% and those with Thyroseq intermediate or high risk was 27%. Conclusion: Availability of centralized cytopathology and reflex molecular testing to Community practice settings helps reducing unnecessary thyroid surgeries in patients with incidental thyroid nodules. Presentation: 6/1/2024

Duplex ultrasonography for screening and monitoring of carotid artery stenosis for risk stratification of ischemic stroke

Aim: To evaluate the efficiency of Duplex Ultrasonography (DUS) for monitoring and screening of Carotid Artery Stenosis (CAS).Methods: PubMed, Web of Science, Cochrane, and SCOPUS were searched for relevant articles. The quality assessment of the included studies was conducted according to the Cochrane Risk of Bias Tool.Results: Our meta-analysis included six articles. We found that carotid DUS could detect mild CAS in 25%, moderate CAS in 13%, severe CAS in 14.5% of the examined vessels, detection of carotid artery plaques in 36.5% of the examined vessels, and abnormal intima thickness in 21.5% of the examined vessels.Conclusion: DUS is an important exam in the identification of patients with symptomatic CAS. It can improve clinical practice and provide cost-effective management for CAS. Carotid DUS showed high specificity and sensitivity in the diagnosis of CAS, especially a severe degree of stenosis

B-308 Analytical and clinical performance of a novel ovarian cancer screening test in asymptomatic women

Abstract Background Ovarian cancer (OC) ranks among the deadliest gynecological cancers, often diagnosed at advanced stages when treatment options are limited. Costly sequencing methods and established immunoassay and imaging-based methods lack early-stage sensitivity, highlighting the need for a cost-effective test with improved performance. Extracellular vesicles (EVs) produced in abundance by all cells can potentially improve test sensitivity and detection of multiple colocalized cancer specific markers can improve test specificity. The randomized controlled trial UKCTOCS (United Kingdom Collaborative Trial of Ovarian Cancer Screening) where over 200,000 postmenopausal asymptomatic women were randomly assigned to three arms revealed no significant reduction in mortality with OC screening. We report on an EV-based OC Test performance in serum samples from asymptomatic postmenopausal women in UKCTOCS. Methods The OC Test was previously locked (biomarkers, method, cutoff) and validated in an independent cohort. We evaluated the OC Test in a blinded case-control study nested within the no screening (NS) and annual ultrasound screening (USS) arms of UKCTOCS. All UKCTOCS participants provided a blood sample at study entry. Cases were all women who developed high grade serous ovarian cancer (HGSOC) within 36 months following sample donation (spun within 28 hours). They were matched by age at collection (+/-2 years) to women who had no OC detected either before or within the trial follow up period (controls). Where a case had &amp;gt;1 sample within the 0-36 months period, the control sample was matched to the case sample closest to diagnosis. The OC Test was run with a locked method and classifier algorithm utilizing 3 independent biomarker combinations tested in duplicate. OC Test results were calculated based on a previously determined cutoff prior to unblinding of clinical outcomes. Run controls were prepared by harvesting conditioned media from COV413A cell cultures (an ovarian epithelial-serous carcinoma cell line), purifying EVs and spiking into pre-screened OC Test negative human plasma at three levels. Run controls were run twice per day, one replicate per run for 17 days. Results We retrospectively assessed 116 samples from 108 cases (63 clinical Dx NS, 15 clinical Dx USS, 30 screen detected USS) women with HGSOC and 1310 samples from 1310 controls. OC test sensitivity for HGSOC was 84% (36/43; 95% CI 69%-93%), Stage I/II sensitivity was 89% (8/9; 95% CI 51%-99%) and the AUC (area under the curve) was 0.93 for case samples drawn 0-12 months prior to clinical Dx and all control samples. The OC Test specificity was 98% (1099/1176, 95% CI 97%-98%). Within laboratory CVs were 20.9%, 12.7% and 0.6% for low negative, high negative and high positive run controls respectively. Data from 143 samples (10%, 9 cases, 134 controls) were excluded due to operator error, low sample volume or quality issues. Conclusions The OC Test is capable of highly sensitive detection of HGSOC within one year of clinical diagnosis including at the earliest stages of disease while maintaining exceptionally high specificity. The results demonstrate the potential application of the OC Test for ovarian cancer screening in asymptomatic women.

‘Six years of experience with the nationwide newborn ultrasonographic hip screening program in Turkey: a considerable change in the type of surgical interventions in developmental dysplasia of the hip’

‘Six years of experience with the nationwide newborn ultrasonographic hip screening program in Turkey: a considerable change in the type of surgical interventions in developmental dysplasia of the hip’