PURPOSE:Cardiac rhabdomyoma, the most common fetal cardiac tumor, is frequently associated with tuberous sclerosis complex (TSC). This study examined pre- and postnatal factors affecting mortality in fetal cardiac rhabdomyoma (FCR) and explored links between TSC and clinical features. METHODS:A systematic review was conducted in July 2023 using Medline, Web of Science, Embase, and Cochrane Library to identify reported FCR cases. Analyses were performed on two sample groups (A and B). RESULTS:Neonatal mortality was significantly associated with hydrops (p < 0.001), tumor progression (p < 0.001), fetal heart failure (p < 0.001), and fetal growth restriction (FGR) (p = 0.021). Hydrops was the strongest predictor of mortality (Sample A: RR 17.2, p = 0.027; Sample B: RR 12.2, p = 0.006). Among 683 cases, 73% were diagnosed with TSC. Multiple tumors increased the likelihood of TSC (Sample A: RR 4.8, p < 0.0001; Sample B: RR 3, p = 0.015). In postnatal factors, preterm delivery (p < 0.001), cardiac arrhythmia (p = 0.001), and heart failure (p < 0.001) were also linked to mortality. CONCLUSIONS:Hydrops is the strongest mortality predictor in FCR. Multiple tumors are associated with TSC. In prenatal factors, tumor progression, fetal heart failure, and FGR were associated with increased mortality.
Metastasis of breast cancer to genital organs is rare and the ovaries are the most common site of metastasis from extra-genital primary cancer. Invasive lobular carcinoma (ILC) is the most frequent type of breast cancer causing distant metastasis. A 41-year-old woman with past medical history of right breast invasive lobular carcinoma and breast conservative surgery 3 years before presenting with abnormal vaginal bleeding. Ultrasound showed bilateral solid appearing ORADS 4 masses and endometrial thickening. The endometrial lesion and bilateral adnexal masses did not show significant restriction on the MRI DWI sequences, nor did they exhibit any significant uptake on the PET scan images. Surgical pathology of total abdominal hysterectomy and bilateral oophorectomy confirmed infiltrating lobular carcinoma in the uterus and both adnexa originating from the breast. Here we are presenting a known case of breast cancer with extensive metastasis to genital organs. It is necessary for radiologists to be informed about the exact previous history of breast cancer, its histopathological subtype, and the extension of the disease when they encounter with a known case of breast cancer patient diagnosed by ovarian masses in imaging. Metastasis from lobular carcinoma of the breast to genital organs can appear low uptake in PET and without restriction on DWI images of MRI due to its infiltrative pattern of involvement. Therefore, PET/CT and MRI are not perfect techniques for rule out metastasis in these patients.
Background: Congenital malformations are a major cause of prenatal and neonatal mortality worldwide. Central nervous system (CNS) malformations are among the most commonly recognized congenital anomalies. Understanding the prognosis and severity of these malformations is essential for prenatal counseling. Objectives: This study aimed to evaluate the distribution and outcomes of pregnancies complicated by CNS malformations at a tertiary referral hospital. Methods: This retrospective cohort study was conducted at the Yas Hospital Complex from December 2021 to December 2024. All patients with fetal malformations identified by sonography were assessed, and those with CNS malformations were included. Results: We analyzed 398 patients with fetal malformations and identified 135 cases (33.9%) of CNS malformations. The mean maternal age was 30.49 years, and the mean body mass index was 26.03 kg/m2. Most mothers (90.2%) reported no consanguineous relationship. Malformations were diagnosed at a mean gestational age of 23 weeks. The live birth rate was 54.1%; 25.9% of pregnancies underwent legal termination, and 3.7% resulted in neonatal death. The most common CNS malformation was ventriculomegaly, accounting for 54.8% of cases. Isolated CNS malformations occurred in 69.6% of patients. The non-isolated group had a higher termination rate. Noninvasive prenatal testing and amniocentesis predominantly yielded normal results; however, severe cases resulted in termination. These findings underscore the need for prenatal counseling regarding outcomes associated with CNS malformations. Conclusions: The mean gestational age at diagnosis was 23 weeks, underscoring the importance of early detection of fetal CNS anomalies and the fact that some cases present at later gestational ages. When considering the implications of malformations and the option of legal abortion, a higher gestational age limit, particularly near the threshold of viability, should be considered in the decision-making process.
Objectives: Polypoid endometriosis is a rare presentation of endometriosis which may mimic various pelvic malignancies. In this study, we aim to explain a rare case and review the specific features in multiple imaging modalities for differentiating benign from malignant lesions. Case presentation: The patient was a 27-year-old woman presenting with highly vascular multiloculated solid cystic pelvic mass, separate from ovaries and uterus with high T1 signal in cystic components. There were conflicting appearances ranging from sarcoma to endometriosis related malignancy or benign endometriosis related pathology in ultrasound and MRI. After surgical excision, polypoid endometriosis was confirmed in pathology. Conclusion: The radiologists have to be familiar with imaging characteristics of polypoid endometriosis in different imaging evaluations. Imaging features such as dark T2 signal intensity, lack of diffusion restriction, and smooth border help them to make an accurate diagnosis and appropriate management.
Lateral semicircular canal (LSCC) dysplasia is a common malformation of the inner ear, which often results in hearing loss. The relationship between the extent of LSCC dysplasia and hearing loss severity is not well-understood. This case series aimed to investigate the differences in bony island radiologic measurements in patients with LSCC dysplasia according to hearing loss classification. Patients were recruited if they were less than 40 years old, underwent computed tomography scan (CTS) and had suspected LSCC dysplasia. The images were reviewed and the anterior-posterior diameter (APD), transverse diameter, and the surface area of the bony island were measured in millimeters. Audiometric data were used to classify hearing loss as profound hearing loss (PHL), conductive hearing loss (CHL), or mixed hearing loss (MHL). We also recorded patients’ demographics, and clinical symptoms such as vertigo and tinnitus. SPSS software was used for data analysis and a p value less than 0.05 was considered significant. Fourteen patients were recruited and the mean age of the participants was 20.4 ± 14.4 years. Bilateral LSCC dysplasia was detected in 12 patients, and unilateral dysplasia was observed in 2 patients (a total of 26 ears). CHL, MHL and PHL affected 13 (50
Integrating diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) measurements with existing MR imaging protocols improves the differentiation between benign and malignant adnexal lesions. We aimed to assess the additional value of quantitative ADC in diagnosing adnexal masses classified by the O-RADS-MRI score and evaluate the impact on diagnostic performance. This retrospective cohort study analyzed 159 patients with 218 ovarian masses, classified into benign, borderline, and malignant groups via histopathological evaluation. We examined MRI parameters, including solid component size and signal intensity, time-intensity curves (TICs), ADC values and O-RADS categories. Receiver Operating Characteristic (ROC) curve analysis determined optimal ADC cut-off values for differentiating tumor classifications. The optimal cut-off values for the ADC between O-RADS MRI categories 3–4, and 4–5, were 1.36 × 10⁻³ mm²/sec and 0.99 × 10⁻³ mm²/sec respectively. the introduction of ORADS-ADC classification, utilizing these ADC cut-offs demonstrated superior diagnostic performance compared to traditional O-RADS, with improvements observed across several metrics: in ORADS-ADC 3–4 sensitivity increases from 69.2 to 94.12
Endometriosis is a complex condition with a wide range of clinical manifestations, presenting significant challenges, particularly for young women. Its diverse and often perplexing presentations pose difficulties within the medical community. Laparoscopy remains the gold-standard diagnostic tool for endometriosis. However, alternative diagnostic methods are valuable for monitoring disease progression, assessing the likelihood of recurrence, reducing the need for surgical procedures, and facilitating timely decisions regarding fertility concerns. Recent research highlights the potential of microRNAs (miRNAs) as an alternative diagnostic test for endometriosis. A case-control study was conducted at the infertility unit of Arash Women's Hospital, involving 50 female participants, 25 with endometriosis and 25 without it. Plasma samples were collected and analyzed for the expression levels of 16 miRNAs using quantitative reverse transcription polymerase chain reaction (qRT-PCR). Diagnostic accuracy measures were evaluated to establish a reliable and comparable diagnostic framework. Compared to the control group, downregulation of 11 miRNAs and upregulation of 5 miRNAs were observed in the case group. Regarding expression patterns, evidence from this study indicates that half of the evaluated miRNAs fall into the high-agreement category with similar studies. Sensitivity (SN) of the evaluated miRNAs ranged from 64.0% to 88.0%, while specificity (SP) ranged from 56.0% to 88.0%. The area under the curve (AUC) was reported between 0.619 (miR-135a) and 0.846 (miR-340). These findings suggest that the evaluated miRNAs demonstrate moderate to acceptable diagnostic accuracy for endometriosis.
Objective:To investigate the accuracy of magnetic resonance imaging (MRI) in classifying sonographically indeterminate ovarian and adnexal masses. Materials and Methods:This was a retrospective cross-sectional study of the unenhanced pelvic MRI scans of 243 patients with a collective total of 336 adnexal and ovarian masses. Results:Unenhanced MRI showed a sensitivity of 97.7%, a specificity of 86.4%, and an accuracy of 93.8%. The area under the ROC curve was 0.944 (95% CI: 0.913-0.974). Conclusion:Our results show that an unenhanced MRI protocol can be used to classify adnexal masses, especially in clinical settings in which the intravenous administration of gadolinium-based contrast is not safe and should be avoided.
Background Congenital heart disease (CHD) is the main cause of perinatal morbidity and mortality. Nuchal Translucency (NT), Ductus Venosus (DV), and Tricuspid Regurgitation (TR) have shown potential in CHD detection. Aim of review We evaluated the pooled diagnostic test accuracy of these markers during the first-trimester screening. Key scientific concepts of review PubMed, Scopus, Web of Science, and Embase were searched. A bivariate random effects model created Summary Receiver Operating Characteristic (SROC) curves and the pooled sensitivities and specificities. Forty-two studies were included. For major CHDs, the pooled sensitivities and specificities were 43.1 % (95 % CI: 35.0 %–51.6 %) and 95.5 % (95 % CI: 93.5 %–96.9 %) for A/R DV a wave, 57.8 % (95 % CI: 43.3 %–71.0 %) and 88.8 % (95 % CI: 77.7 %–94.7 %) for abnormal DV-PIV, 37.0 % (95 % CI: 26.6 %–48.6 %) and 97.7 % (95 % CI: 94.6 %–99.1 %) for TR, 41.4 % (95 % CI: 23.2 %–62.2 %) and 93.7 % (95 % CI: 92.7 %–94.6 %) for NT > 95th percentile, and 26.6 % (95 % CI: 11.0 %–51.7 %) and 98.3 % (95 % CI: 97.5 %–98.9 %) for NT > 99th percentile. For the combined models in detecting major CHDs, the highest specificity of 97.8 % (95 % CI: 93.9 %–99.2 %) belonged to NT > 95th percentile and A/R DV a wave. The most sensitive tests were the combination of NT > 95th percentile or A/R DV a wave or TR 61.4 % (95 % CI: 49.7 %–71.9 %). Combining increased NT with the presence of A/R a-wave can help diagnose CHD, while normal NT, A/R DV a wave, and TR indicate lower CHD risk.
BACKGROUND:The study explores corpus callosum malformation (CCM) using comprehensive brain Magnetic Resonance Imaging (MRI) for the assessment of associated malformations and their relation to long-term outcomes. METHODS:During a 7-year period, all cases of CCM diagnosed via fetal MRI were retrospectively studied. Neurodevelopmental outcomes were assessed through postnatal interviews. Fetal brain imaging was performed using a 1.5-T MRI scanner without sedation, focusing on CC development and associated anomalies. RESULTS:The study included 59 participants with CCM. Isolated CCM was observed in 25.4% of cases, while 74.6% presented with additional intracranial abnormalities, including cortical malformation (45.8%), periventricular nodular heterotopia (25.4%), supratentorial parenchymal signal intensity abnormality (25.4%), and sulcation delay (16.9%). Additionally, 16.9% of CCM cases were associated with non-neurological anomalies, such as craniofacial malformations (8.5%) and urinary abnormalities (5.1%). In terms of pregnancy outcomes, 20.3% underwent pregnancy termination, 5.1% ended in stillbirth, 22.0% resulted in death after birth, and 52.5% resulted in live births. A significant association was observed between the coexistence of cortical malformation and poor prognosis (p = 0. 012). CONCLUSION:The broad spectrum of anomalies linked to CCM, along with their clinical outcomes, underscores the pivotal role of MRI in prenatal screening for fetuses diagnosed with CCM.
Background: Endometriosis is a benign gynecologic condition that is estrogen-de-pendent. Malignant transformation is one of the complications of endometriosis; it canaffect the woman`s ovarian and extra-ovarian regions. Diagnosing endometriosis-asso-ciated cancers has an essential role in treatment.Purpose: Our study aimed to review magnetic resonance imaging (MRI) features ofmalignant transformation of pelvic endometriosis. Material and Methods: We searched three online databases including Web of Sci-ence, Scopus, and PubMed, applying relevant keywords up to May 2022. We includedEnglish observational studies using MRI for endometriosis patients and comparing theMRI features of malignant pelvic endometriosis with non-malignant ones or studiesreporting the MRI features of malignant pelvic endometriosis. Finally, a comprehen-sive systematic review of the included studies was conducted. The small number ofqualifying studies was the most significant limitation. Also, the eligible studies wereinsufficient for conducting a meta-analysis. Results: A total of eight papers were included as they matched our inclusion require-ments. Eighty-seven individuals were included finally. Studies were published between1992 and 2021. The larger size of the lesion, loss of T2-weighted images shading, muralnodules, mural nodules contrast enhancement, and mural nodules protruding fromthe cyst wall at acute angles were the main MRI features suggesting potential malig-nant transformation of pelvic endometriosis. Conclusion: The endometriosis›s malignant changes can be observed on MRI. Thepredominant MRI findings are a large cyst, loss of shading on T2-weighted imaging,mural nodules enhancement, and acutely angled protrusion of mural nodules fromthe cyst wall.
Various soft markers can be detected in the ultrasonography of foetuses, which can be related to chromosomal abnormalities and increases the risk of abnormalities, or they can be considered as normal variations that can disappear due to the pregnancy progress. There are different tools to detect chromosomal abnormalities like conventional karyotyping, chromosomal microarray analysis (CMA), single nucleotide polymorphism (SNP) array, non-invasive prenatal test (NIPT), and non-invasive prenatal screening (NIPS). Therefore, in the present study, we aim to assess the accuracy of ultrasonic soft markers in the diagnosis of chromosomal abnormalities such as chromosomal structural abnormalities, aneuploidy, and triploidy, especially Trisomy 21 and Trisomy 18. A systemic literature search was performed using PubMed, Scopus, Google Scholar, and Web of Science. We gathered all articles published before August 2023. We selected English studies such as retrospective and cross-sectional ones that assessed the relationship between ultrasonic soft markers and foetal chromosomal abnormalities. A total of 10 articles with 18,580 cases were included in our systematic review article that assessed the foetal abnormalities and aneuploidies by using conventional karyotyping, SNP array, CMA, and NIPT (or NIPS). Trisomy 21, Trisomy 18, and chromosomal structural abnormalities were the most common abnormalities related to ultrasonic soft markers by karyotyping; however, Trisomy 13, 47, XXY, 45, X, and mosaic chromosomal abnormalities were other abnormalities detected. Results by CMA showed Trisomy 21 and Trisomy 18 as the most common abnormalities in the foetuses also with ultrasonic soft markers, and other abnormalities were pathogenic copy-number variations, Turner (XO), polyploidy, 22q11.2deletion, and Trisomy13, respectively. It was discovered that there is a greater possibility of having pathogenic copy number variations (CNVs) in the groups with multiple ultrasonic soft markers, while foetuses with ultrasonic soft markers have a decreased prevalence of CMA abnormality compared to those who had significant abnormalities or abnormal nuchal translucency. Trisomy 21 was the only abnormality found by NIPT in the groups with 1 and 2 soft markers, while groups with multiple soft markers were all normal. By using SNP array, it was identified that the rate of chromosomal abnormalities such as aneuploidy and triploidy, LOH, and CNVs was lower in the group with a single ultrasonic soft marker compared to the group with structural abnormalities in multiple systems. Trisomy 21, Trisomy 18, and chromosomal structural abnormalities were the most common chromosomal abnormalities that ultrasound soft markers could diagnose. Therefore, it is recommended to employ soft markers besides CMA, SNP array, and NIPS (or NIPT) for greater accuracy in detecting foetus abnormalities.
Background. The effects of oligopin as an antioxidant on polycystic ovarian morphology (PCOM) have not yet been examined. Therefore, the objective of this study was to evaluate the oligopin supplementation on PCOM among patients with polycystic ovarian syndrome (PCOS). Methods. This randomized, placebo‐controlled trial was carried out at Shariati Hospital, Arash Hospital, and Yas Hospital, Tehran, Iran, to determine the effect of oligopin (50 mg/d) or placebo in PCOS patients. The ultrasonographic ovarian morphology was assessed in women aged 18–40 years, before and after 3 months of intervention. Results. Among 45 randomized participants, 32 participants, of whom 17 were in the oligopin group and 15 were in the placebo group completed the trial. There was only one adverse event in the oligopin group. The mean (standard deviation) age of the patients was 30.47 (6.30) years and the median (interquartile range) BMI was 27.50 (23.42–33.55). Three months of oligopin therapy significantly decreased ovarian stromal area (p = 0.01) and stromal/total area (p = 0.003). However, no significant differences were observed in the ovarian volume, ovarian area, 2–9 mm antral follicle counts, or peripheral follicle distribution pattern at 3 months. Conclusion. Among participants with PCOS, the use of oligopin (50 mg) daily, as compared with a placebo, resulted in improvement of the stromal area and stromal/total area at the end of the 3 months of treatment. Further studies are, however, needed to evaluate the longer‐term efficacy and safety. This trial is registered with IRCT20140406017139N3.
PURPOSE:This study aims to compare the accuracy of the ADNEX MR scoring system and pattern recognition system to evaluate adnexal lesions indeterminate on the US exam.METHODS:In this cross-sectional retrospective study, pelvic DCE-MRI of 245 patients with 340 adnexal masses was studied based on the ADNEX MR scoring system and pattern recognition system.RESULTS:ADNEX MR scoring system with a sensitivity of 96.6% and specificity of 91% has an accuracy of 92.9%. The pattern recognition system's sensitivity, specificity, and accuracy are 95.8%, 93.3%, and 94.7%, respectively. PPV and NPV for the ADNEX MR scoring system were 85.1 and 98.1, respectively. PPV and NPV for the pattern recognition system were 89.7% and 97.7%, respectively. The area under the ROC curve for the ADNEX MR scoring system and pattern recognition system is 0.938 (95% CI, 0.909-0.967) and 0.950 (95% CI, 0.922-0.977). Pairwise comparison of these AUCs showed no significant difference (p = 0.052).CONCLUSION:The pattern recognition system is less sensitive than the ADNEX MR scoring system, yet more specific.
Objectives: Dynamic contrast-enhanced (DCE) MRI is not available in all imaging centres to investigate adnexal masses. We proposed modified magnetic resonance (MR) scoring system based on an assessment of the enhancement of the solid tissue on early phase postcontrast series and diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) map and investigated the validity of this protocols in the current study. Materials and Methods: In this cross-sectional retrospective study, pelvic MRI of a total of 245 patients with 340 adnexal masses were studied based on the proposed modified scoring system and ADNEX MR scoring system. Results: Modified scoring system with the sensitivity of 87.3% and specificity of 94.6% has an accuracy of 92.1%. Sensitivity, specificity, and accuracy of ADNEX MR scoring system is 96.6%, 91%, and 92.9%, respectively. The area under the receiver operating characteristic curve for the modified scoring system and ADNEX MR scoring system is 0.909 (with 0.870-0.938 95% confidence interval [CI]) and 0.938 (with 0.907-0.961 95% CI), respectively. Pairwise comparison of these area under the curves showed no significant difference (P =.053). Conclusions: Modified scoring system is less sensitive than the ADNEX MR scoring system and more specific but the accuracy is not significantly different. Advances in knowledge: According to our study, MR scoring system based on subjective assessment of the enhancement of the solid tissue on early phase postcontrast series and DWI with ADC map could be applicable in imaging centres that DCE is not available.
Congenital disseminated pyogenic granuloma (CDPG) is characterized by eruptive disseminated or localized lesions, which may arise spontaneously or secondary to predisposing factors. Even rarer is the occurrence of CDPG with numerous lesions affecting variable organs, which develop during the fetal period. This report describes the case of a 32-week-old fetus presenting with severe hydrocephalus and vascular intracranial and right lung masses on magnetic resonance imaging. Preterm labor occurred at the 32nd week due to preterm premature rupture of membranes, and the newborn died due to cardiac dysfunction within 2 hours postpartum. The subsequent autopsy revealed multiple violaceous to dark red papules, nodules, pedunculated and un-pedunculated mucocutaneous masses, as well as two brain lesions, a lung lesion, a thoracic wall intramuscular mass, and a pyloric mass. Microscopic examination and immunohistochemical evaluation for glucose transporter 1 (GLUT1) confirmed the diagnosis of CDPG. CDPG represents a rare condition with an elusive etiology and limited reports in the literature. Differential diagnosis from multifocal infantile hemangioma, based on GLUT1 negativity of CDPG, is imperative due to differing clinical course and treatment modalities. This report underscores a severe case of CDPG characterized by preterm labor and demise shortly after delivery, notable for its extensive involvement across multiple organs, including the brain, lung, intestine, musculoskeletal system, mucosal, and numerous cutaneous sites.
This pictorial essay focuses on ultrasound (US) and magnetic resonance imaging (MRI) features of fetal urogenital anomalies. Fetal urogenital malformations account for 30%-50% of all anomalies discovered during pregnancy or at birth. They are usually detected by fetal ultrasound exams. However, when ultrasound data on their characteristics is insufficient, MRI is the best option for detecting other associated anomalies. The prognosis highly depends on their type and whether they are associated with other fetal abnormalities.
Introduction/BackgroundAdnexal lesions range from benign and simple cysts to borderline and malignant tumors. Determining how to treat these masses requires the use of highly accurate diagnostic tools. It is imperative to use a tool that helps accurately diagnose the extent of the disease and choose the optimal treatment approach. The study aimed to evaluate the accuracy of ultrasound (US) compared with MRI and the results of both compared with postoperative pathology of adnexal tumors.MethodologyThis prospective cohort study included 84 women with at least one adnexal lesion detected by US who underwent surgery at our hospital. MRI and transvaginal (TV) US-O-RADS grading systems were calculated for all patients preoperatively, and the results were compared to postoperative pathology reports using detection rate (DR) values.ResultsAbout 65.5% of the adnexal masses were benign, and 34.5% were borderline/malignant. The correlation between MRI and TV US O-RADS scores was significantly (p-value<0.001) acceptable (r=0.637). Although the highest TV US and MRI O-RADS DR values were in malignant tumors, all DRs were less than 50%.ConclusionIt seems that TV US can replace MRI when performed by an expert radiologist. Although both TV US and MRI O-RADS scores had low DR in differentiating between benign and malignant tumors, having an almost 50% chance of malignancy is enough to refer the patient to an expert institute with gynecologic oncologists and accessible intraoperative frozen section consultation to decrease the severe consequences of incomplete staging.DisclosuresNone.
Vocal fold paralysis (VFP) can happen in various conditions due to mediastinal LADs, however no study has proposed anthracosis as an etiology. Here we discussed the chest CT features of anthracosis related LADs causing VFP. Among 41 cases of pulmonary anthracosis, 10 had VFP that all were presented with hoarseness. The paralysis was unilateral (left side) in all cases. Extra-nodal infiltration and conglomeration of lymph nodes were significantly higher in patients with paralysis. Left paratracheal, pre-vascular, and aortopulmonary window lymph nodes were seen in all patients. We propose that mediastinal LADs secondary to anthracosis could be a reason for left side VFP.