A case of intra-abdominal gossypiboma diagnosed preoperatively by endoscopic ultrasound fine-needle-aspiration.

Gossypiboma is an extremely rare adverse event occurring post-surgery, where surgical gauze is left within the body. If aseptically retained, it can lead to the formation of granulation tissue through chronic inflammation and adhesion with surrounding tissues, potentially persisting asymptomatically for many years. While diagnosis of this condition has been reported through various imaging modalities such as abdominal ultrasound and computed tomography, cases not presenting with typical findings are difficult for preoperative diagnosis, and instances where it is discovered postoperatively exist. Particularly when in contact with the gastrointestinal tract within the abdominal cavity, differentiation from submucosal tumors of the digestive tract becomes problematic. This report describes the imaging characteristics of endoscopic ultrasound and the usefulness of endoscopic ultrasound-fine-needle-aspiration for tissue diagnosis in the preoperative diagnosis of intra-abdominal gossypiboma.

Radiomics analysis for prediction and classification of submucosal tumors based on gastrointestinal endoscopic ultrasonography.

Objectives: To identify and classify submucosal tumors by building and validating a radiomics model with gastrointestinal endoscopic ultrasonography (EUS) images. Methods: A total of 144 patients diagnosed with submucosal tumors through gastrointestinal EUS were collected between January 2019 and October 2020. There are 1952 radiomic features extracted from each patient's EUS images. The statistical test and the customized least absolute shrinkage and selection operator regression were used for feature selection. Subsequently, an extremely randomized trees algorithm was utilized to construct a robust radiomics classification model specifically tailored for gastrointestinal EUS images. The performance of the model was measured by evaluating the area under the receiver operating characteristic curve. Results: The radiomics model comprised 30 selected features that showed good discrimination performance in the validation cohorts. During validation, the area under the receiver operating characteristic curve was calculated as 0.9203 and the mean value after 10-fold cross-validation was 0.9260, indicating excellent stability and calibration. These results confirm the clinical utility of the model. Conclusions: Utilizing the dataset provided curated from gastrointestinal EUS examinations at our collaborating hospital, we have developed a well-performing radiomics model. It can be used for personalized and non-invasive prediction of the type of submucosal tumors, providing physicians with aid for early treatment and management of tumor progression.

Endoscopic ultrasound-guided tissue acquisition for focal liver lesions in patients with a history of multiple primary malignant neoplasms.

Objective: This study aimed to investigate the usefulness of endoscopic ultrasound-guided tissue acquisition (EUS-TA) for diagnosing focal liver lesions in patients with a history of multiple primary malignant neoplasms. Methods: Among patients who underwent EUS-TA for focal liver lesions between 2016 and 2022, those with a history of multiple malignant neoplasms were included. A histologically confirmed malignant tumor within the past 5 years before EUS-TA was defined as a history of malignant neoplasm. The primary outcomes were diagnostic ability and adverse events of EUS-TA. Results: This study included 16 patients (median age, 73 [33-90] years), the median tumor size was 32 (6-51) mm, 14 had a history of double malignant neoplasms, whereas two had triple malignant neoplasms. Malignant neoplasms were detected histologically or cytologically in all cases. Immunohistochemistry was performed in 75% (12/16), and the final diagnosis of EUS-TA was metastatic liver tumor in 12 patients, and primary malignant liver tumor in four patients. The primary site could be identified in 11 of 12 metastatic tumor cases. The diagnostic yield of EUS-TA was 100% (16/16) for differentiating benign and malignant tumors and 94% (15/16) for confirming the histological type including the primary site of metastatic lesions. No adverse events were associated with the procedure. Conclusion: EUS-TA is a useful diagnostic modality for focal liver lesions in patients with a history of multiple malignant neoplasms, allowing for the differential diagnosis of primary and metastatic tumors and identification of the primary site of metastatic lesions.

Case report: Sequential treatment strategy for advanced basal cell carcinoma in Gorlin-Goltz syndrome: integration of vismodegib, radiotherapy, surgery, and high-intensity focused ultrasound.

Managing advanced basal cell carcinoma (BCC) in patients with Gorlin-Goltz syndrome presents unique clinical challenges due to the tumor's aggressive nature and potential for widespread metastasis. This case study details a sequential treatment regimen for a 68-year-old female patient with an extensive, inoperable BCC. Employing a multimodal approach that integrates radiotherapy, the Hedgehog pathway inhibitor vismodegib, and High-Intensity Focused Ultrasound (HIFU), we demonstrate the potential for nearly complete remission in a patient with advanced BCC. Initial treatment with radiotherapy and vismodegib reduced tumor size significantly, but the largest mass displayed resistance over time, signifying the need for innovative therapies. Subsequent HIFU treatment targeted individual lesions, showcasing a non-invasive method that provided precise treatment while mitigating systemic side effects. The case emphasizes the necessity of continual adaptation in treatment plans to address the development of resistance and underscores the importance of incorporating new technologies and targeted therapies for complex BCC cases. The successful outcome of this integrated strategy suggests a promising direction for future research and highlights the importance of multidisciplinary approaches that tailor treatment to individual patient needs, tumor characteristics, and evolving therapeutic landscapes.

Tumor perfusion enhancement by microbubbles ultrasonic cavitation reduces tumor glycolysis metabolism and alleviate tumor acidosis.

The tumor microenvironment is increasingly acknowledged as a critical contributor to cancer progression, mediating genetic and epigenetic alterations. Beyond diverse cellular interactions from the microenvironment, physicochemical factors such as tumor acidosis also significantly affect cancer dynamics. Recent research has highlighted that tumor acidosis facilitates invasion, immune escape, metastasis, and resistance to therapies. Thus, noninvasive measurement of tumor acidity and the development of targeted interventions represent promising strategies in oncology. Techniques like contrast-enhanced ultrasound (CEUS) can effectively assess blood perfusion, while ultrasound-stimulated microbubble cavitation (USMC) has proven to enhance tumor blood perfusion. We therefore aimed to determine whether CEUS assesses tumor acidity and whether USMC treatment can modulate tumor acidity. Firstly, we tracked CEUS perfusion parameters in MCF7 tumor models and compared them with in vivo tumor pH recorded by pH microsensors. We found that the peak intensity and area under curve of tumor contrast-enhanced ultrasound correlated well with tumor pH. We further conducted USMC treatment on MCF7 tumor-bearing mice, tracked changes of tumor blood perfusion and tumor pH in different perfusion regions before and after the USMC treatment to assess its impact on tumor acidity and optimize therapeutic ultrasound pressure. We discovered that USMC with 1.0 Mpa significantly improved tumor blood perfusion and tumor pH. Furthermore, tumor vascular pathology and PGI2 assays indicated that improved tumor perfusion was mainly due to vasodilation rather than angiogenesis. More importantly, analysis of glycolysis-related metabolites and enzymes demonstrated USMC treatment can reduce tumor acidity by reducing tumor glycolysis. These findings support that CEUS may serve as a potential biomarker to assess tumor acidity and USMC is a promising therapeutic modality for reducing tumor acidosis.

Characterization of the anterior segment in Trisomy 21-associated cataract using ultrasound biomicroscopy.

Backgroundobjectives: To compare the structural anatomy of the anterior segment in pediatric Trisomy 21 (T21) subjects with and without cataracts to age-matched controls. Design: Prospective case-control study. Participants: 40 subjects (57 eyes) age 0-25 years old (9.1 ± 10.6 years). Methods: This prospective case-control study evaluated anterior segment measurements from ultrasound biomicroscopy (UBM) imaging on 342 images. Results: Among persons with T21 cataract, the iris was significantly thinner than T21 individuals without cataract (0.28 vs 0.32 mm, p = 0.0181). T21/cataract subjects also had significantly thinner lenses than subjects without cataract, regardless of whether they have T21 or are controls (3.1 mm vs 3.5 mm, p = 0.0074).Thinner lens (<3.5 mm) was insignificantly associated with increased odds of cataract (OR = 9.5 [0.872,104], p = 0.065). Thinner iris (<0.32 mm) was associated with increased odds of cataract (OR = 8.4 [1.188, 59.273], p = 0.033). Conclusions: These findings support the hypothesis that subtle quantitative anatomic variants are present in the anterior eye of individuals with T21. Specific anatomic variants are unique to the presence of cataract among subjects with T21.

Comparison of the effectiveness of ultrasound-guided radiofrequency ablation and conventional open thyroidectomy in the treatment of benign thyroid nodules.

Objective: To compare the effectiveness of ultrasound (US)-guided radiofrequency ablation (RFA) and conventional open thyroidectomy (OT) in the treatment of benign thyroid nodules (BTN). Methods: Medical records of 103 patients with BTN undergoing surgical treatment at The Affiliated Jiangning Hospital of Nanjing Medical University from March 2019 to March 2022 were retrospectively analyzed. Records show that 53 patients underwent US-guided RFA (observation group) and 50 patients underwent conventional OT (control group). Perioperative indicators (operation duration, intraoperative blood loss, postoperative hospital stay, incision length, and VAS score 12h and 24h after surgery), complications, thyroid function, and nodule recurrence in both groups were compared and analyzed. Results: Perioperative indicators of patients in the observation group were better, and the visual analogue scale (VAS) scores at 12 and 24 hours after the surgery were lower than those of the control group (p<0.05). The incidence of complications in the observation group was significantly lower than that in the control group (p<0.05). There was no statistically significant difference in the preoperative levels of thyroid-stimulating hormone (TSH), serum free thyroxine (FT4) and serum free triiodothyronine (FT3) between the two groups (p>0.05). The postoperative TSH levels in the observation group increased compared to the preoperative levels and were higher than those in the control group, while FT4 and FT3 levels decreased after surgery and were lower than those in the control group (p<0.05). Conclusions: Compared to conventional open thyroidectomy, US-guided RFA is associated with less trauma, faster recovery, fewer complications, and less impact on thyroid function in the treatment of patients with BTN.

Ultrasound evaluation of scar thickness for prediction of uterine dehiscence in term women with previous caesarean sections.

Objective: To determine the role of ultrasound in evaluation of scar thickness for prediction of uterine dehiscence. Method: This retrospective cross-sectional study was conducted in the Radiology department of Aga Khan University Hospital from 1st July to 31st December 2021 after approval from the University Ethic Committee. In this study pregnant women 18 to 40 years with a live singleton fetus with vertex presentation, at term, with history of prior caesarean section and availability of medical record were included. Using a curvilinear ultrasound transducer with optimally distended urinary bladder, the myometrial thickness was measured in the sagittal plane. The intraoperative visual findings of the lower uterine segment outcome at the time of C-section were recorded and categorized into two groups i.e., with and without dehiscence for statistical analysis. Results: A total of 126 women were included. The mean age of the study participants was 29.8±4.1. The median gestational age was 35 (34-37) weeks. The highest AUC 0.58 was recorded for the scar thickness of ≤2.5mm with a sensitivity, specificity, PPV and NPV of 80.9%, 36.4%, 36.3% and 80.8% respectively. Similarly, the AUC for the scar thickness of ≤2mm was 0.55 with a sensitivity, specificity, PPV and NPV of 93%, 18.2%, 18.2% and 93% respectively. Conclusion: Transabdominal Sonography is a safe technique to determine the LUS thickness during antenatal ultrasound at term. A cutoff value of ≤2mm showed a high sensitivity and negative predictive value of 93% for evaluating the risk of uterine dehiscence.

Continuous Ultrasound-Guided Lumbar Erector Spinae Plane Block for Thigh Cellulitis Analgesia: A Case Report.

The management of refractory acute medical pain can be challenging, especially if severe and decompensated systemic pathologies contraindicate neuraxial techniques and deep peripheral blocks. In this case report, we propose a continuous ultrasound-guided lumbar erector spinae plane block (ESPB) for multimodal analgesia of thigh cellulitis. The patient was an 80-year-old male, admitted to the intensive care unit due to septic shock originating from cellulitis of the right lower limb, associated with multiorgan dysfunction. To address refractory pain in the thigh, an ultrasound-guided lumbar ESPB at L3 was performed, with the placement of a perineural catheter and administration of 30 mL of 0.5% ropivacaine, followed by 30 mL boluses of 0.375% ropivacaine every six hours with progressive weaning. The patient maintained controlled pain without the need for rescue analgesia. Continuous ultrasound-guided lumbar ESPB is an effective and safe alternative for thigh analgesia in patients with refractory acute medical pain and systemic pathologies that contraindicate other regional techniques.

Use of Point-of-Care Ultrasound to Diagnose a Ruptured Splenic Hemangioma.

An 89-year-old female presented to the emergency department (ED) with hypotension and altered mental status. The patient had no external signs of trauma or hemorrhage and no abdominal tenderness on examination. The patient remained hypotensive after initial fluid resuscitation, and laboratory testing revealed a significant anemia. Point-of-care ultrasound (POCUS) was used to perform a rapid ultrasound in shock (RUSH) exam in an attempt to uncover the etiology of undifferentiated hypotension. The exam displayed free fluid in the right upper quadrant and the left upper quadrant exam demonstrated a large splenic lesion with mixed echogenicity. Subsequent computed tomography (CT) of the abdomen and pelvis with intravenous contrast suggested a ruptured hemorrhagic splenic cyst, and the patient underwent an emergent splenectomy for hemorrhage control. Operative pathologic examination revealed the cystic lesion to be a splenic hemangioma. This case report highlights the utility of the Rapid Ultrasound for Shock and Hypotension (RUSH) protocol when evaluating patients with undifferentiated nontraumatic shock, and a rare cause of spontaneous intra-abdominal hemorrhage.

Effects of local vibration stimulation on muscle recovery and hypertrophy.

[Purpose] Optimization of post-training muscle recovery is important in clinical rehabilitation and sports science. In this study, we investigated the effects of local vibration stimulation on post-training muscle recovery and hypertrophy in healthy adults, focusing on the upper extremities. [Participants and Methods] The study included 20 healthy students categorized into the control and vibration stimulation groups. Both groups underwent training, including elbow flexion. The vibration stimulation group received immediate post-training local vibration stimulation. Evaluation included measurement of upper arm circumference, muscle strength, muscle hardness, and ultrasonographic imaging. [Results] Our results showed that local vibration stimulation increased muscle luminosity but had no significant effect on muscle strength, hardness, or thickness. [Conclusion] Post-training vibration stimulation may promote muscle growth and recovery by stimulating blood flow and improving nutrient and oxygen supply to muscles.

A rat model of cerebral small vascular disease induced by ultrasound and protoporphyrin.

Cerebral small vascular disease (CSVD) has a high incidence worldwide, but its pathological mechanisms remain poorly understood due to the lack of proper animal models. The current animal models of CSVD have several limitations such as high mortality rates and large-sized lesions, and thus it is urgent to develop new animal models of CSVD. Ultrasound can activate protoporphyrin to produce reactive oxygen species in a liquid environment. Here we delivered protoporphyrin into cerebral small vessels of rat brain through polystyrene microspheres with a diameter of 15 µm, and then performed transcranial ultrasound stimulation (TUS) on the model rats. We found that TUS did not affect the large vessels or cause large infarctions in the brain of model rats. The mortality rates were also comparable between the sham and model rats. Strikingly, TUS induced several CSVD-like phenotypes such as cerebral microinfarction, white matter injuries and impaired integrity of endothelial cells in the model rats. Additionally, these effects could be alleviated by antioxidant treatment with N-acetylcysteine (NAC). As control experiments, TUS did not lead to cerebral microinfarction in the rat brain when injected with the polystyrene microspheres not conjugated with protoporphyrin. In sum, we generated a rat model of CSVD that may be useful for the mechanistic study and drug development for CSVD.

Ultrasonographic differential diagnosis of medial elbow pain.

Medial elbow pain is a common musculoskeletal problem among individuals engaging in repetitive activities. Medial epicondylitis is the predominant cause of this pain. However, other potential causes must be considered as part of the differential diagnosis. This article discusses several etiologies of medial elbow pain, including medial epicondylitis, ulnar neuropathy, snapping triceps syndrome, ulnar collateral ligament injury, medial antebrachial cutaneous neuropathy, and diseases of the elbow joint, with an emphasis on ultrasound (US) findings. Awareness of possible diagnoses and their US features can assist radiologists in establishing a comprehensive diagnosis for medial elbow pain.

The Articulatory and Acoustic Representation of Second-Language French Vowels.

This study examines how L1 English-L2 French learners use L1 articulatory and acoustic categories to produce L2 vowels that are both similar to and different from their L1 vowels. Previous studies examining the relationship between L1 and L2 sound inventories have found that learners reuse L1 phone categories to produce L2 phones that are perceived as similar, but importantly, there is a lack of articulatory data included in these types of studies, which has reinforced the assumption that vowel categories can be solely represented by their acoustic properties. The present study uses ultrasound tongue imaging data and videos of lip rounding in addition to acoustic data to examine how L1 English-L2 French learners produce the French vowels /i y u e ø o/ compared with their English vowels /i u e o/. The results focus on individual paths to category formation to show how learners articulate L2 vowels, and reveal that they tend to reuse L1 tongue body gestures to produce the French vowels /i u e o/, and lip rounding gestures to produce the round vowels /y u o/. This study demonstrates that transfer of articulatory gestures depends on vowel quality and emphasizes the importance of using articulatory data to inform theories of L2 category formation.

Intracardiac ultrasound-guided transseptal puncture in horses: Outcome, follow-up, and perioperative anticoagulant treatment.

BACKGROUND: Cardiac catheterizations in horses are mainly performed in the right heart, as access to the left heart traditionally requires an arterial approach. Transseptal puncture (TSP) has been adapted for horses but data on follow-up and closure of the iatrogenic atrial septal defect (iASD) are lacking. HYPOTHESIS/OBJECTIVES: To perform TSP and assess postoperative complications and iASD closure over a minimum of 4 weeks. ANIMALS: Eleven healthy adult horses. METHODS: Transseptal puncture was performed under general anesthesia. Serum cardiac troponin I concentrations were measured before and after puncture. Weekly, iASD closure was monitored using transthoracic and intracardiac echocardiography. Relationship between activated clotting time and anti-factor Xa activity during postoperative enoxaparin treatment was assessed in vitro and in vivo. RESULTS: Transseptal puncture was successfully achieved in all horses within a median duration of 22 (range, 10-104) minutes. Balloon dilatation of the puncture site for sheath advancement was needed in 4 horses. Atrial arrhythmias occurred in 9/11 horses, including atrial premature depolarizations (N = 1), atrial tachycardia (N = 5), and fibrillation (N = 3). Serum cardiac troponin I concentrations increased after TSP, but remained under the reference value in 10/11 horses. Median time to iASD closure was 14 (1-35) days. Activated clotting time correlated with anti-factor Xa activity in vitro but not in vivo. CONCLUSIONS AND CLINICAL IMPORTANCE: Transseptal puncture was successfully performed in all horses. The technique was safe and spontaneous iASD closure occurred in all horses. Clinical application of TSP will allow characterization and treatment of left-sided arrhythmias in horses.

Microwave ablation for colorectal liver metastases with ultrasound fusion imaging assistance: a stratified analysis study based on tumor size and location.

PURPOSE: To investigate the efficacy of ultrasound fusion imaging-assisted microwave ablation (MWA) for patients with colorectal liver metastases (CRLM) based on stratified analysis of tumor size and location. METHODS: Patients with CRLM who underwent ultrasound fusion imaging-assisted MWA in our hospital between February 2020 and February 2023 were enrolled into this retrospective study. Ultrasound fusion imaging was used for detection, guidance, monitoring and immediate evaluation throughout the MWA procedures. Technical success, technique efficacy, local tumor progression (LTP), intrahepatic progression and overall survival (OS) were recorded and analyzed. The subgroup analysis of intrahepatic progression of MWA for CRLM was performed according to tumor size and location. RESULTS: A total of 51 patients with 122 nodules were enrolled. Both technical success and technique efficacy were acquired in all nodules. In a median follow-up period of 19 months, 2.5% of the nodules (3/122) were observed LTP. The 1-year and 2-year cumulative intrahepatic progression rates were 38.7% and 52.1% respectively. Patients were divided into subgroups according to tumor size (≥ 30 mm, n = 13; < 30 mm, n = 38) and tumor location (perivascular, n = 20; non-perivascular, n = 31 and subcapsular, n = 36; non-subcapsular, n = 15). The cumulative intrahepatic progression rates were similar between the subgroups regarding tumor size and perivascular location, while significantly higher in the subcapsular group than in the non-subcapsular group (p = 0.021). CONCLUSION: Ultrasound fusion imaging-assisted MWA exhibited satisfactory local efficacy for CRLM, especially for non-subcapsular tumors.

Comparison of clinical/histological outcomes according to puncture sites in endoscopic ultrasound-guided fine needle biopsy for large pancreatic masses: Multicenter randomized prospective pilot study.

OBJECTIVES: There are no recommendations regarding the optimal puncture site in endoscopic ultrasound-guided fine needle biopsy (EUS-FNB). This multicenter randomized prospective study compared the diagnostic accuracy and histological findings according to the sampling site for pancreatic masses larger than 3 cm. METHODS: Consecutive patients with pancreatic masses larger than 3 cm indicated for EUS-FNB were included in the study. Patients were randomly assigned to two groups for the initial puncture site (central vs. peripheral sampling of the masses). A minimum of four passes were performed, alternating between the center and the periphery. The primary outcome was diagnostic accuracy. RESULTS: A total of 100 patients were equally divided into the central group and the peripheral group. The final diagnosis revealed malignancy in 95 patients (pancreatic cancer [n = 89], neuroendocrine tumor [n = 4], lymphoma [n = 1], metastatic carcinoma [n = 1]), and benign conditions in five patients (chronic pancreatitis [n = 4], autoimmune pancreatitis [n = 1]). There was no significant difference in diagnostic accuracy between the puncture sites. However, combining samples from both areas resulted in higher diagnostic accuracy (97.0%) compared to either area alone, with corresponding values of 88.0% for the center (P = 0.02) and 85.0% for the periphery (P = 0.006). CONCLUSIONS: Both central sampling and peripheral sampling showed equivalent diagnostic accuracy in detecting malignancy. However, combining samples from both areas generated superior diagnostic yield compared to using either sampling site alone. For pancreatic masses larger than 3 cm, it is advisable to consider sampling from various areas of the masses to maximize the diagnostic yield.

An arteriovenous fistula model: Carotid artery-posterior facial vein fistula in rats.

OBJECTIVE: To describe an alternative arteriovenous fistula (AVF) model involving anastomosis of the common carotid artery (CCA) with the posterior facial vein (PFV). METHODS: Twenty-two male Sprague-Dawley rats (age 6-8 weeks) were used to establish the AVF model involving end-to-side anastomosis of PFV and CCA. The peak velocity of the CCA and the diameter of the outflow vein were recorded at 7, 14, and 42 days after the operation using Doppler ultrasound. Pathological examination of the intimal lesions was performed at 14 and 42 days after operation. RESULTS: One rat died within 24 h after surgery related to anesthesia. The patency rates at days 7, 14, and 42 were 85.7%, 81%, and 81%, respectively. The diameter of the carotid artery in rats is approximately 0.8 mm. The diameter of the outflow vein was increased by 1.7-fold and 2.2-fold at 7 days (1.1 ± 0.118 mm) and 14 days (1.4 ± 0.073 mm). At 42 days (1.96 ± 0.101 mm) after operation, the diameter was 3-fold greater compared to the unoperated control rat. The peak systolic flow velocity of the carotid artery at 7 days (593 ± 17.36 mm/s) and 14 days (767 ± 13.64 mm/s) after surgery was significantly greater compared to the control rat (314 ± 15.13 mm/s). The rate of increase was fastest at 7 days and leveled off from 14 to 42 days (875 ± 26 mm/s) after surgery. At 14 days, the intima area showed a nearly 50-fold increase (230 ± 9.93 µm2 × 103) compared to control (area 5 ± 0.37 µm2 × 103). Comparing 6 weeks with 2 weeks (280 ± 10.54 µm2 × 103) after surgery, the intima area increased 1.2 times. CONCLUSION: The CCA-PFV fistula in rats is a viable alternative AVF model.

A narrative review on tip navigation and tip location of central venous access devices in the neonate: Intracavitary ECG or real time ultrasound?

The proper location of the tip of a central venous access device plays a crucial role in minimizing the risks potentially associated with its use. Recent guidelines strongly recommend preferring real-time, intra-procedural methods of tip location since they are more accurate, more reliable and more cost-effective than post-procedural methods. Intracavitary electrocardiography and real time ultrasound can both be applied in the neonatal setting, but they offer different advantages or disadvantages depending on the type of central venous access device. Reviewing the evidence currently available about the use of these two methods in neonates, in terms of applicability, feasibility and accuracy, it can be concluded that (a) real time ultrasound is the only acceptable methodology for tip navigation for any central venous access device in neonates, (b) intracavitary electrocardiography is the preferred method of tip location for central catheters inserted by ultrasound-guided cannulation of the internal jugular vein or the brachiocephalic vein, and (c) real time ultrasound is the preferred method of tip location for umbilical venous catheters, epicutaneo-cava catheters, and central catheters inserted by ultrasound-guided cannulation of the common femoral vein.

Molecular analysis of 31 cases with fetal skeletal dysplasia.

OBJECTIVES: The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis. METHODS: Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study. RESULTS: Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7 weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7 weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined. CONCLUSIONS: Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.