Ultrasound Abnormalities Research Articles

Kidney volume and function of low-birth-weight children at 5years: impact of singleton and twin birth.

Many studies have demonstrated the association between low birth weight (LBW) and chronic kidney disease, estimated glomerular filtration rate (eGFR) and kidney volume (KV). However, studies on twins and those investigating numerous perinatal factors beyond LBW, and their associations with various kidney parameters are scarce. A two-center cross-sectional study on five-year-old LBW children was conducted between 2021 and 2023. 110 children were enrolled (8 LBW, 58 very LBW (VLBW), 44 extremely LBW (ELBW)); 56 were twins. We examined associations between birth weight (BW), various prenatal, perinatal and postnatal factors, and eGFR, KV, tubular abnormalities and kidney ultrasound abnormalities, both in singletons and twins. In children with ELBW, eGFR correlated with BW (r = 0.55, P = 0.0018), while in those with BW ≥ 1000g, eGFR remained constant. Other factors associated with decreased eGFR were hypertensive disorder of pregnancy (93.86 vs. 87.26ml/min/1.73m2, P = 0.0285) in singletons, decreased growth velocity (β = 0.83, P = 0.0277) in twins, and lower total KV (tKV) and relative KV (rKV) in both singletons (r = 0.60, P < 0.0001 for tKV and r = 0.45, P = 0.0010 for rKV) and twins (β = 0.34, P < 0.0001 for tKV and β = 0.23, P = 0.0002 for rKV). Based on the multivariable models excluding KV, BW and gestational age were associated with eGFR in singletons, while male gender, BW, growth velocity, and coffee drinking during pregnancy were associated with eGFR in twins. However, in models that included KV, BW, gestational age and growth velocity were no longer significant. Total KV was associated with BW (r = 0.39, P = 0.0050 for singletons; β = 2.85, P < 0.0001 for twins), body mass index (r = 0.34, P = 0.0145 for singletons; β = 8.44, P < 0.0001 for twins), and growth velocity (β = 1.43, P = 0.0078). Twins born small for gestational age had lower tKV (70.88 vs 89.20ml, P < 0.0001). Relative KV showed similar associations. Relative kidney volumes were significantly lower for both kidneys compared to the reference population (55.02 vs 65.42ml/m2, P < 0.0001 for right kidney and 61.12 vs 66.25ml/m2, P = 0.0015 for left kidney); however, only 8.6% of children had rKV below 10th percentile. Many factors affect eGFR and KV, some of them differ between twins and singletons. Based on multivariable models, eGFR seems to be better predicted by KV than by BW and gestational age in LBW children. Relative kidney volumes were significantly lower in our cohort compared to the reference population, but only 8.6% of rKV were below 10th percentile.

The association of increased incidence of congenital heart disease in newborns with maternal COVID-19 infection during pregnancy

This paper aims to examine the potential link between maternal COVID-19 infection during pregnancy and the increased risk of congenital heart disease (CHD) in newborns. A comparative analysis was conducted involving two groups: mothers infected with COVID-19 during pregnancy and a control group. Data on maternal characteristics, pregnancy-related complications, and newborn outcomes were collected and analyzed. Additionally, the annual incidence rates of CHD from 2020 to 2023 were evaluated to assess trends over time. No significant differences were found between the COVID-19 cases and the control group in terms of maternal age, BMI, gravidity, parity, use of assisted reproductive technology, adverse obstetric history, or complications during pregnancy, including diabetes mellitus, preeclampsia, and thyroid abnormalities. For newborn outcomes, there were no significant differences in sex distribution, rate of cesarean delivery, Apgar scores, or birth weight. However, a significantly higher prevalence of cardiac ultrasound abnormalities was observed in the COVID-19 group (10.08%) compared to the control group (4.13%, p = 0.012). Further analysis revealed that the majority of cardiac abnormalities in the COVID-19 group occurred in mothers infected before 8 weeks of pregnancy. The annual incidence rates of CHD showed a significant increase during the COVID-19 pandemic, with the highest rate in 2023 (5.46%) compared to previous years. Maternal COVID-19 infection during pregnancy may adversely affect the development of the newborn’s heart. This could be due to the inflammatory response caused by the viral infection or other pathological processes. The findings underscore the importance of vigilant prenatal care and early detection of cardiac abnormalities during the pandemic and suggest the need for further research to explore potential mechanisms and intervention strategies.

The value of ultrasound for monitoring disease activity in giant cell arteritis

Giant cell arteritis (GCA) is the most common primary systemic vasculitis in the elderly. Although the diagnosis of GCA has improved, monitoring its disease activity remains challenging due to the lack of validated tools and biomarkers. The current reliance on assessing symptoms, physical signs, and inflammatory markers during disease follow-up presents limitations, notably the nonspecific nature of GCA-related symptoms and the suppressive impact of IL-6 inhibitors on inflammatory markers. Therefore, recent attention has shifted toward acknowledging imaging as a monitoring tool, particularly ultrasound, given its widespread accessibility, cost-effectiveness, and well-established role in GCA diagnosis. Research on this topic has found that ultrasound characteristics, including the number of affected arterial segments and halo size, are associated with laboratory markers and treatment response, underscoring the ultrasound’s potential as a monitoring tool for GCA. It has also been demonstrated that ultrasound abnormalities progress differently throughout the disease course, depending on the type of arterial involvement, with vessel wall changes in the axillary arteries resolving more slowly than those in the temporal arteries. Nevertheless, there are still no studies comparing the added value of regular ultrasounds for monitoring disease activity to clinical and laboratory monitoring alone; hence, this imaging modality is not yet recommended for patients with GCA in clinical and biochemical remission. This narrative review aims to synthesize the main research findings of key studies addressing the role of ultrasound for monitoring disease activity in GCA, with a focus on the pattern of arterial involvement. It highlights the potential of ultrasound, particularly halo sign assessment, for evaluating disease progression but notes that further validation and standardization of protocols are needed to improve accuracy and enable routine use.

Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome

BackgroundThe clinical phenotypes of 16p13.11 microduplication syndrome have been extensively reported in previous studies, mostly about adults and children, with limited information available on fetal cases. This study aims to explore the genotype-phenotype correlation of fetuses with 16p13.11 microduplication syndrome and analyze the characteristics of prenatal diagnosis indications and provide clinical information for prenatal and postnatal genetic counseling.MethodsWe conducted a retrospective analysis of 3,451 pregnant women who underwent invasive prenatal diagnosis for SNP array between January 2018 and December 2022 at the Jinan Maternal and Child Health Hospital. Descriptive statistical analysis was performed on the prenatal diagnosis indications, pedigree analysis, pregnancy outcomes and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.ResultsSNP array revealed that 15 fetuses had duplications in the 16p13.11 region with varying prenatal diagnosis indications. Among the cases, 6/15 exhibited ultrasound abnormalities, 5/15 had abnormal chromosomal copy number variations as indicated by non-invasive prenatal testing (NIPT), one case involved advanced maternal age, and 3/15 had other abnormalities. 16p13.11 microduplication syndrome was closely related to ultrasound abnormalities, especially structural abnormalities and soft marker anomalies (abnormal ultrasonic soft indicators), while the indication of NIPT could improve the detection rate of copy number variations (CNVs) in this region. Only 7/15 fetuses underwent pedigree verification, with one case of de novo 16p13.11 microduplication, and the others inherited from one parent. Pregnancy was terminated in 2/15 cases and the outcome of one case is unknown due to loss to follow-up. Among the remaining cases, only one case exhibited a ventricular septal defect, while another presented with omphalocele. No other obvious abnormalities were reported postnatally.ConclusionThe prenatal phenotypes of fetuses with 16p13.11 microduplication were highly associated with ultrasound abnormalities but lacked specificity. Comprehensive genetic tracing, outcome analysis, and follow-up are essential for providing accurate prenatal and postnatal genetic counseling.

A CASE REPORT OF CHRONIC HEPATITIS WITH EFFUSION IN A DOG AND ITS THERAPEUTIC MANAGEMENT

The present study was aimed to know the chronic hepatitis with abdominal effusion in a beagle dog and its therapeutic management. A 2.5 year old male beagle was presented to Madras Veterinary College teaching Hospital, madras veterinary college, Chennai with the history of inappetence, abdominal distension for past 10 days and the clinical signs of inappetence, fever and palpablelymph node and congested mucous membrane. On Physical examination, dog showed respiratory distress and dull. Dog was subjected for radiography examination, haematology, biochemistry parameters and ultrasound examination. On first day of examination, dog was treated with Lasix at the dose rate of 3 mg/kg body weight, antibiotics and Tribivet injection. Hematology and biochemical values revealed neutrophilia, elevated alkaline phosphatase, total bilirubin, direct bilirubin, and decreased total protein and albumin. The lateral view radiography of abdomen revealed fluid shadow and ultrasound examination revealed that chronic hepatitis with moderate abdominal effusion. In case of clinical suspicion of hepatitis an ultrasonographic liver scan can be of diagnostic aid and the finding of an altered structure can be indicative of a liver problem. In many cases of chronic hepatitis may not be associated with ultrasound abnormalities but ascites can be easily identified. Dog was treated with antibiotic cefotaxime at the dose rate of 25 mg/Kg body weight and Lasix at the dose rate of 3 mg/Kg body weight with liver supplement of Lysibin which contain silymarin and supplement with Astymin syrup for 3 weeks. The animal was reviewed after three weeks of treatment which was subjected for haeamtology, biochemistry and ultrasound examination which revealed there was improvement in the blood parameters with decreased total protein and normal level of Alkaline phosphatase and bilirubin level and ultrasound examination revealed normal study of abdominal effusion and liver echogenicity and dog had normal appetite and normal vital parameters. In this case hepatitis may be due to any viral etiology like adenovirus that may cause hepatitis with effusion that may be respond to treatment and diuretics and brought normal parameters of vital in dog. Chronic hepatitis with effusion may be further confirmed by Liver biopsy and molecular diagnosis.

Risk factors associated with late-onset hearing loss in children with congenital cytomegalovirus: a systematic review.

To search for existing evidence of prognostic factors related to the development of late-onset hearing loss (LOHL) in infants with congenital cytomegalovirus (cCMV). A PRISMA systematic review was performed, with the PubMed, Embase, and Web of Science databases searched from inception through to December 2023; after the application of inclusion and exclusion criteria a total of 9 papers were included in this review. PROSPERO registration number CRD42024492244. 9 studies encompassing a total of 292 children with late-onset hearing loss were included. A total of 12 risk factors were identified in the literature, with 6 found to be statistically significant. Late-onset hearing loss was more frequently reported in children with symptomatic than asymptomatic cCMV. Moreover, in asymptomatic cCMV cases, elevated DNAemia and salivary viral load were associated with late-onset hearing loss. Additionally, first-trimester seroconversion was identified as a risk factor for late- onset hearing loss. Further, gestational age < 37weeks and low birth weight were found to correlate with late-onset hearing loss. Remarkably, only one study documented a relationship between late-onset hearing loss and ultrasonographic abnormalities. Although six statistically significant risk factors have been identified, the available evidence is limited and inconsistent, preventing the establishment of reliable neonatal and maternal parameters to predict the development of LOHL in patients with CMV. There are few studies addressing this topic, and those available exhibit a low level of evidence and heterogeneous designs. More studies should be done.

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities.

Chromosomal microarray analysis (CMA) is a first-line test to assess the genetic etiology of fetal ultrasound abnormalities. The aim of this study was to evaluate the effectiveness of CMA in detecting chromosomal abnormalities in fetuses with ultrasound abnormalities, including structural abnormalities and non-structural abnormalities. A retrospective study was conducted on 368 fetuses with abnormal ultrasound who received interventional prenatal diagnosis at Meizhou People's Hospital from October 2022 to December 2023. Samples of villi, amniotic fluid, and umbilical cord blood were collected according to different gestational weeks, and karyotype and CMA analyses were performed. The detection rate of chromosomal abnormalities in different ultrasonic abnormalities was analyzed. There were 368 fetuses with abnormal ultrasound, including 114 (31.0%) with structural abnormalities, 225 (61.1%) with non-structural abnormalities, and 29 (7.9%) with structural combined with non-structural abnormalities. The detection rate of aneuploidy and pathogenic (P)/likely pathogenic (LP) copy number variations (CNVs) of CMA in fetuses with structural abnormalities was 5.26% (6/114), the detection rate of karyotype was 2.63% (3/114), and the additional diagnosis rate of CMA was 2.63%. In the fetuses with ultrasonic non-structural abnormalities, the detection rate of karyotype was 6.22% (14/225), the detection rate of aneuploidy and P/LP CNVs in fetuses with ultrasonic structural abnormalities was 9.33% (21/225), and the additional diagnosis rate of CMA was 3.11%. There was no significant difference in chromosome abnormality detection rate of CMA among structural abnormality, non-structural abnormality, and structural abnormality combined with non-structural abnormality groups (5.3%, 9.3%, and 13.8%, p = 0.241), also among multiple ultrasonic abnormality and single ultrasonic abnormality groups (14.8%, and 7.3%, p = 0.105). CMA can significantly improve the detection rate of genetic abnormalities in prenatal diagnosis of ultrasonic abnormal fetuses compared with karyotype analysis. CMA is a more effective tool than karyotyping alone in detecting chromosomal abnormalities in fetuses with ultrasound abnormalities.

Ultrasonographic abnormalities in clinically unaffected nerves of patients with nonvasculitic motor and sensorimotor mononeuropathies.

Diagnostic criteria for multifocal motor neuropathy (MMN) and multifocal acquired demyelinating sensorimotor neuropathy (MADSAM) require the involvement of at least two peripheral nerves. However, many patients with very similar features have clinical involvement of only a single peripheral nerve, which may preclude their correct diagnosis and treatment. The present study aimed to present a cohort of such patients and discuss the role of ultrasonography (US) in their diagnosis. Patients with nonvasculitic immune-mediated motor mononeuropathies (MM) and sensorimotor mononeuropathies (SMM) were recruited prospectively or identified from the electronic records. They were invited to comprehensive follow-up visits consisting of clinical examination, electrodiagnostic (EDx), and US studies. Twenty-four patients (13 men) were studied (11 with MM). The characteristics of MM and SMM patients were very similar to MMN and MADSAM, respectively. The US, in addition to a long-swollen segment (average length, 20 cm) in the clinically affected nerve, revealed nerve swelling in, on average, six additional sites in clinically unaffected nerves. In patients with clinical and EDx involvement of only a single nerve, an US demonstration of multifocal peripheral nerve swelling points to a more widespread, probably dysimmune mechanism. Further studies are needed to evaluate the value of US as a supplementary method for the diagnosis of MADSAM and MMN in patients with clinical involvement of a single nerve.

A Deeper Look at Office Hysteroscopy in Asymptomatic Postmenopausal Patients: indications and outcomes of 822 Cases.

Study ObjectiveThis study aims to assess the prevalence of malignancy and other endometrial pathologies in asymptomatic postmenopausal women referred for office hysteroscopy, identify main referral indications, and assess their relationship with the risk of malignancy.Secondary objectives included evaluating the association between ultrasound variables and malignancy risk and assessing procedure validity, which encompasses duration, feasibility and patient comfort during office hysteroscopy. DesignRetrospective analysis. SettingThe study was conducted at the Department of Gynecology, Division of Gynaecology and Obstetrics, University Medical Centre Ljubljana, Slovenia's largest tertiary care center. ParticipantsThe cohort consisted of 822 asymptomatic postmenopausal women referred for office hysteroscopy, excluding those with postmenopausal bleeding within the last year. InterventionsParticipants underwent office hysteroscopy with or without biopsy. Measurements and Main ResultsThe main indication for hysteroscopy was ultrasound abnormalities alone, with remaining indications including a combination of ultrasound and clinical findings. Among the cohort, 97.4% exhibited benign findings, while 2.6% were diagnosed with cancer or precancerous lesions. The analysis revealed that patients with indications based on ultrasound and clinical findings suggestive of malignancy had a higher risk of malignancy compared to those with ultrasound alone. In 387 patients with documented ultrasound variables, inhomogeneous endometrial appearance (OR: 8.2, 95% CI: 2.4-27.9, p<0.001) and significant liquid content within the uterine cavity (OR: 10.2, 95% CI: 3.6-28.9, p<0.001) exhibited strong associations with malignancy. Analysis of the procedure revealed a high feasibility rate (87.8%), with a median duration of 13,7 minutes and a median VAS pain score after the procedure of 3/10. ConclusionsThe prevalence of endometrial cancer and precancerous lesions in asymptomatic postmenopausal patients is likely low, with most intrauterine pathologies being benign. Our study demises the utility of routine endometrial surveillance for this population in the absence of specific risk factors. A holistic approach, considering individualized assessments and factors beyond endometrial thickness, is crucial in interpreting ultrasonic findings.

Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies

BackgroundFetal structural anomalies are detected by ultrasound in approximately 3 % of pregnancies. Numerous genetic diagnostic strategies have been widely applied to identify the genetic causes of prenatal abnormalities. We aimed to assess the value of simultaneous copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) in diagnosing fetuses with structural anomalies. MethodsFetuses with structural anomalies detected by ultrasound were included for eligibility. After genetic counseling, WES and CNV-seq were performed on DNA samples of fetuses and their parents. All detected variants were evaluated for pathogenicity according to ACMG criteria, with the final diagnosis was determined based on ultrasound results and relevant family history. ResultsThe diagnostic rate of 174 fetuses with prenatal ultrasound abnormalities was 26.44 %, higher than that achieved through either CNV or WES analysis alone. Furthermore, the highest diagnostic rate was observed in fetuses with multiple system anomalies, accounting for 50 % of the total diagnostic yield, followed by skeletal system anomalies at 45.45 %. Three cases with multiple system abnormalities were found to have a dual diagnosis of pathogenic CNVs and SNV variants, representing 1.72 % of the total cohort. 38 pregnant women in their third trimester of pregnancy (27 weeks+) participated in this study, and 23.68 % received a confirmed genetic diagnosis. Finally, 31 women (67.39 %) voluntarily terminated their pregnancy following the testing and extensive genetic counseling. ConclusionsOur study demonstrated that the simultaneous CNV-seq and WES analyses are beneficial for the molecular diagnosis of underlying unexplained structural anomalies in fetuses. This strategy is more efficient in elucidating prenatal abnormalities with compound problems, such as dual diagnoses. Furthermore, the simultaneous strategy has a shorter turnaround time and is particularly suitable for families with structural anomalies found in the third trimester of pregnancy.

Ultrasound assessment of Achilles enthesitis: a dedicated training program.

To describe an intensive and multimodal ultrasound (US) training program focused on Achilles enthesitis and to illustrate the learning curve of trainees without experience. Three medical students (trainees) and two rheumatologists experienced in musculoskeletal US (trainers) were involved in the training program, which encompassed one preliminary theoretical-practical meeting and five scanning sessions (two patients per session). The students and one expert performed the US examination of the Achilles enthesis bilaterally. The trainees acquired representative images and assessed the presence of Outcome Measures in Rheumatology (OMERACT) US abnormalities of enthesitis. The experts provided feedback addressing trainees' misinterpretations, and the quality of the acquired images was evaluated. A dedicated questionnaire was used to evaluate the students' confidence. After each session, five sets of static images (total=100 images of most commonly scanned entheses) were provided and scored by the students according to OMERACT US definitions. Total agreement and prevalence and bias adjusted kappa (PABAK) were used to evaluate the concordance between the trainees and the expert sonographer. The total agreement and PABAK significantly improved between the first and fifth scanning sessions (76.2% versus 92.9%, p<0.01, and 0.5 versus 0.79, p<0.01) and between the first and fifth static image sets (64.5% versus 81.9%, p<0.01, and 0.29 versus 0.74, p<0.01). Image quality did not significantly improve (p=0.34). A significant increase in trainees' confidence was registered (p<0.01). The described training program rapidly improved the students' performance in the US assessment of Achilles enthesitis, appearing to be an effective starting model for the future development of pathology-oriented teaching programs for the US in rheumatology.

Associations between Fetal Symptoms during Pregnancy and Neonatal Clinical Complications with Toxoplasmosis.

Toxoplasmosis is a parasitism transmitted by Toxoplasma gondii, part of the TORCH complex, the most prevalent parasitism worldwide. It is asymptomatic in immunocompetent individuals but causes severe infections and developmental abnormalities in pregnant women, mainly affecting the central nervous system and the gastrointestinal system. In our prospective study, we analyzed cases of recent maternal Toxoplasma infections confirmed by serological testing between 1996 and 2020 at the Department of Obstetrics and Gynecology, Semmelweis University. Amniocentesis, followed by PCR, was performed in cases of recent infection confirmed by serological testing during pregnancy. After birth, a neonatological, microbiological, pediatric neurological and ophthalmological examination and a follow-up was carried out. During the study period, a total of 238 cases of amniotic fluid Toxoplasma PCR testing due to Toxoplasma recent infection were performed. In terms of pregnancies, there were 219 deliveries and seven abortions. Twelve cases had no data available on the outcome of the pregnancy. In total, 133 cases of ultrasound abnormalities were detected during pregnancy, while in 105 cases, no abnormalities were detected on ultrasound examination. During amniocentesis, eight cases of Toxoplasma infection were revealed in amniotic fluid samples by PCR, and in 230 cases, the result was negative. Neonatal follow-up was performed in 139 cases, with no abnormalities during follow-up in 117 cases, and in 22 cases, there was a detectable complication that was likely to be related to Toxoplasma infection. In all 22 cases, amniotic fluid PCR Toxoplasma testing was negative. The most common ultrasound abnormalities involve the nervous system and the gastrointestinal system. In cases of suspicion, it is recommended to perform amniocentesis Toxoplasma PCR testing besides the indirect methods to help the pregnant woman decide whether to carry the pregnancy to term. During follow-up, a multidisciplinary team experienced in pregnancies complicated by toxoplasmosis must carry out the follow-up, care and subsequent development.

Value of Ultrasonography in Assessment of Screen-Detected Calcified Ductal Carcinoma In Situ: A Clinical Audit

Abstract Background: Approximately 80% of ductal carcinoma in situ (DCIS) cases are asymptomatic and manifest as microcalcifications, usually detected on screening mammograms. Stereotactic biopsy is used as the primary modality for histopathologic diagnosis. Ultrasonography has been relied upon as a potentially viable alternative for early breast cancer detection, especially in low- and medium-income countries. Aim: Determine the role and reliability of breast ultrasonography in the evaluation of screen-detected microcalcifications using histologically proven calcified DCIS as a case study. Materials and Methods: Cross-sectional evaluation of records of patients recalled for M3–M5 (indeterminate to malignant) type microcalcifications on screening mammograms, with a histological diagnosis of pure DCIS, in an NHS Trust Hospital, Kent, England, from March 2021 to April 2023. Results: Eighty women included were within the age range of 46–79 years, with mean age of 60 years. Background breast density was predominantly fatty in 51/80 (63.8%), without any correlation with mammographic abnormalities. Microcalcifications were classified as indeterminate (M3) in 42/80 (52.5%), while suspicious (M4) and malignant (M5) types were seen in 38/80 (47.5%). No targeted sonographic abnormalities were noted in 69 (86.2%) of the patients, while 11 (13.8%) had sonographic abnormalities. The predominant sonographic feature was non-mass hypoechogenicity in 6/11(55%). There was a correlation between mammographic code, lesion size, and ultrasonic abnormality, with 9/11 (81.8%) patients with sonographic lesions having suspicious and malignant type calcifications. The mean mammographic lesion size was significantly greater in women with abnormal ultrasound findings, 42 vs. 20 mm. Histological tumour grade was high grade in 10/11 (90.9%) lesions. Conclusion: The accuracy of breast ultrasonography as an adjunct in the detection of screen-detected microcalcifications and subsequent guided biopsy is higher when dealing with malignant type microcalcifications &gt;15 mm in size.

Cross-modal Transfer Learning Based on an Improved CycleGAN Model for Accurate Kidney Segmentation in Ultrasound Images

ObjectiveDeep-learning algorithms have been widely applied in the field of automatic kidney ultrasound (US) image segmentation. However, obtaining a large number of accurate kidney labels clinically is very difficult and time-consuming. To solve this problem, we have proposed an efficient cross-modal transfer learning method to improve the performance of the segmentation network on a limited labeled kidney US dataset. MethodsWe aim to implement an improved image-to-image translation network called Seg-CycleGAN to generate accurate annotated kidney US data from labeled abdomen computed tomography images. The Seg-CycleGAN framework primarily consists of two structures: (i) a standard CycleGAN network to visually simulate kidney US from a publicly available labeled abdomen computed tomography dataset; (ii) and a segmentation network to ensure accurate kidney anatomical structures in US images. Based on the large number of simulated kidney US images and small number of real annotated kidney US images, we then aimed to employ a fine-tuning strategy to obtain better segmentation results. ResultsTo validate the effectiveness of the proposed method, we tested this method on both normal and abnormal kidney US images. The experimental results showed that the proposed method achieved a segmentation accuracy of 0.8548 in dice similarity coefficient on all testing datasets and 0.7622 on the abnormal testing dataset. ConclusionsCompared with existing data augmentation and transfer learning methods, the proposed method improved the accuracy and generalization of the kidney US image segmentation network on a limited number of training datasets. It therefore has the potential to significantly reduce annotation costs in clinical settings.

Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center

BackgroudA systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes.MethodsIn this retrospective study conducted between January 2016 and July 2022, a cohort of pregnancies diagnosed with fetal CL/P was enrolled and comprehensive clinical data for all cases were extracted from our medical record database, including demographic data about the pregnancies, ultrasound findings, results of Chromosomal microarray (CMA), as well as relevant pregnant and perinatal outcomes.ResultsAmong the 358 cases, 32 clinically significant variants in 29 (8.1%) fetuses with CL/P were detected by CMA. In 338 singleton pregnancies, the diagnostic yield of CMA in the context of CL/P fetuses was determined to be 7.7% (26/338). CP cases exhibited a relatively higher prevalence of pathogenic/likely pathogenic CNVs at a rate of 25% (3/12), followed by CLP cases at 8.0% (23/288). Notably, the CL group did not demonstrate any pathogenic/likely pathogenic CNV findings among the examined cases (0/38). The diagnostic rate of clinically significant variants was notably higher in the non-isolated CL/P group than in the isolated CL/P group (11/33, 33.3% vs. 15/305, 4.9%, p < 0.001). Within the remaining 20 twin pregnancies, three clinically significant variants (15%) were observed.ConclusionsThis study provides powerful evidence supporting the efficacy of CMA as a valuable tool for facilitating the prenatal genetic diagnosis of fetal CL/P. The presence of CP and CLP in fetal cases demonstrated a relatively higher incidence of pathogenic/likely pathogenic CNVs. Moreover, when these cases were accompanied by additional ultrasound abnormalities, the likelihood of identifying diagnostic CNVs significantly increased. Conversely, cases of CL alone might not be associated with positive CNVs. The present data may significantly enhance prenatal diagnosis accuracy and facilitate informed genetic counseling for cases of fetal CL/P.

Prenatal Diagnosed Agenesis of the Corpus Callosum: Identifying the Underlying Genetic Etiologies.

To assess the genetic etiologies underlying agenesis of the corpus callosum (ACC) and its pregnancy outcomes in the era of next-generation sequencing. A retrospective analysis was conducted on prospectively collected prenatal ACC cases in which amniocentesis was performed between January 2016 and December 2022. ACC was divided into non-isolated and isolated according to the presence or absence of ultrasound abnormalities. Chromosomal microarray analysis (CMA), karyotyping and exome sequencing (ES) were performed after genetic counseling. Pregnancy outcomes were assessed by pediatric neurosurgeons and were followed up by telephone through their parents. Sixty-eight fetuses with ACC were enrolled in this study. CMA detected eight cases with pathogenic copy number variants (CNVs) and all were non-isolated ACC, with a detection rate of 11.8% (8/68). Among the CMA abnormalities, the majority (6/8) were detectable by karyotyping. ES was performed in 26 cases with normal CMA, revealing pathogenic or likely pathogenic gene variations in 12 cases (46.2%, 12/26), involving L1CMA, SMARCB1, PPP2R1A, ARID1B, USP34, CDC42, NFIA and DCC genes. The detection rates of ES in isolated and non-isolated ACC were 40% (6/15) and 54.5% (6/11), respectively. After excluding cases where pregnancy was terminated (56 cases), there were 12 live births, ranging in age from 15months to 7years. Of these, 91.7% (11 out of 12) demonstrated normal neurodevelopmental outcomes. Specifically, all five cases with isolated ACC and negative ES results exhibited normal neurodevelopment. The remaining six cases with favorable outcomes were all isolated ACC, among which ES identified variants of DCC and USP34 gene in one each case. The other four cases were CMA-negative and declined ES. We highlight the efficacy of prenatal ES in determining the genetic etiology of ACC, whether isolated or not. Favorable neurodevelopmental outcomes were observed when ACC was isolated and with normal ES results.

Feasibility and Accuracy of Ultrasound-Guided Core Needle Biopsy for Nipple Lesions: A Pilot Study.

Due to the superficial location, suspicious findings of the nipple-areolar complex (NAC) are not amenable to stereotactic or MRI-guided sampling and have historically necessitated surgical biopsy or skin-punch biopsy. There are limited reports of US-guided core biopsy of the nipple (US-CBN). We report our nearly 3-year pilot experience with US-CBN at an academic breast imaging center. An institutional review board-exempt and HIPAA-compliant retrospective review was performed. We assessed patient demographics, breast imaging characteristics, procedural data, pathology, and outcomes. Nine female patients aged 27 to 64 underwent US-CBN from January 2021 to October 2023. Initial imaging abnormalities included abnormal MRI enhancement, mammographic calcifications, and sonographic masses. After initial or second-look US, all imaging findings had sonographic correlates for biopsy specimens, the majority of which were sonographic masses (8/9). US-CBN was performed by 6 breast radiologists using a variety of devices. All biopsy specimen results were concordant with sonographic abnormalities, although 1 was considered discordant from the initial abnormality seen on MRI. There were no complications, and discomfort during the procedure was well-treated. Two patients (22%, 2/9) were diagnosed with malignancy. This pilot study demonstrated that US-CBN can be performed by a breast radiologist for definitive diagnosis of suspicious nipple abnormalities seen on breast imaging, avoiding surgery, and maintaining nipple integrity. In our population, 22% (2/9) of US-CBNs revealed malignancy.

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.

To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS). This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes. All cases had unremarkable first-trimester ultrasound scans without reporting limb malformations. All had second-trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two-system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term. Enlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.

The role of the radiologist in the evaluation of male infertility: recommendations of the European Society of Urogenital Radiology-Scrotal and Penile Imaging Working Group (ESUR-SPIWG) for scrotal imaging.

The Scrotal and Penile Imaging Working Group (SPIWG) of the European Society of Urogenital Radiology (ESUR) aimed to produce recommendations on the role of the radiologist in the evaluation of male infertility focused on scrotal imaging. The authors independently performed an extensive literature Medline search and a review of the clinical practice and consensus opinion of experts in the field. Scrotal ultrasound (US) is useful in investigating male infertility. US abnormalities related to abnormal sperm parameters (sperm concentration, total count, motility, and morphology) are low testicular volume (TV), testicular inhomogeneity (TI), cryptorchidism, testicular microlithiasis (TML), high-grade varicocele, bilateral absence of vas deferens, bilateral dilation and echotexture abnormalities of the epididymis. The proposed ESUR-SPIWG recommendations for imaging in the evaluation of male infertility are therefore: to measure TV; investigate TI; perform annual (US) follow-ups up to age 55 in men with a history of cryptorchidism/orchidopexy and/or in men with TML plus "additional risk factors" or with "starry sky" TML; perform scrotal/inguinal US in men with nonpalpable testis; perform scrotal US in men with abnormal sperm parameters to investigate lesions suggestive of tumors; evaluate varicocele in a standardized way; evaluate the presence or absence of vas deferens; investigate the epididymis to detect indirect signs suggesting obstruction and/or inflammation. The ESUR-SPIWG recommends investigating infertile men with scrotal US focusing on TV, inhomogeneity, localization, varicocele, vas deferens, and epididymal abnormalities. Cryptorchidism, TML, and lesions should be detected in relation to the risk of testicular tumors. The ESUR-SPIWG recommendations on scrotal imaging in the assessment of male infertility are useful to standardize the US examination, focus on US abnormalities most associated with abnormal semen parameters in an evidence-based manner, and provide a standardized report to patients. So far, ESUR-SPIWG recommendations on scrotal imaging in the assessment of male infertility were not available. The ESUR-SPIWG recommends investigating infertile men with scrotal US focusing on testicular volume, inhomogeneity, localization, varicocele, vas deferens and epididymal abnormalities, and assessing cryptorchidism, testicular microlithiasis and lesions in relation to the risk of testicular tumors. The ESUR-SPIWG recommendations on scrotal imaging in the assessment of male infertility are useful to standardize the US examination, focus on US abnormalities most associated with abnormal sperm parameters in an evidence-based manner, and provide a standardized report to patients.

Aberrant right subclavian artery in the absence of other prenatal ultrasound findings: Should we still be concerned?

To analyze the value of prenatal diagnostic genetic testing in cases with isolated aberrant right subclavian artery (ARSA). This is a retrospective cohort study, conducted between January 2015-January 2022 in a fetal medicine center. Women who had an ultrasound scan and diagnosed with fetal ARSA were included. Ultrasonographic characteristics, genetic, obstetric, and neonatal outcomes were collected and analyzed. A total of 240 fetuses with ARSA were identified and included to the analysis. Eighty-two of the group had isolated ARSA (34.2%, 82/240), 57 had additional soft markers (23.8%, 57/240) and 101 had additional major ultrasonographic abnormalities (42.1%, 101/240). Genetic results were available in 196 cases (81.7%, 196/240). Seventy-four of isolated ARSA cases underwent genetic testing (90.2%, 74/82). A chromosomal abnormality was present in 60 cases; 54 (22.5%, 54/240) aneuploidies and 6 (2.5%, 6/240) copy number variants. Five (6.1%) of the isolated ARSA cases had chromosomal abnormalities. All of these five cases had prenatal genetic testing due to high-risk aneuploidy screening fetuses who had ARSA with at least one additional anomaly had the highest chromosomal abnormality rate (38.6%, 39/101). Seventy-seven of isolated ARSA cases were liveborn (93.9%, 77/82). Our results supports the evidence from the literature that isolated ARSA confers a very low-risk for aneuploidy, if the aneuploidy screening tests are low-risk. Also, chromosomal microarray analysis did not yield any extra information in isolated ARSA.