Role of artificial intelligence applied to ultrasound in gynecology oncology: A systematic review.

The aim of this paper was to explore the role of artificial intelligence (AI) applied to ultrasound imaging in gynecology oncology. Web of Science, PubMed, and Scopus databases were searched. All studies were imported to RAYYAN QCRI software. The overall quality of the included studies was assessed using QUADAS-AI tool. Fifty studies were included, of these 37/50 (74.0%) on ovarian masses or ovarian cancer, 5/50 (10.0%) on endometrial cancer, 5/50 (10.0%) on cervical cancer, and 3/50 (6.0%) on other malignancies. Most studies were at high risk of bias for subject selection (i.e., sample size, source, or scanner model were not specified; data were not derived from open-source datasets; imaging preprocessing was not performed) and index test (AI models was not externally validated) and at low risk of bias for reference standard (i.e., the reference standard correctly classified the target condition) and workflow (i.e., the time between index test and reference standard was reasonable). Most studies presented machine learning models (33/50, 66.0%) for the diagnosis and histopathological correlation of ovarian masses, while others focused on automatic segmentation, reproducibility of radiomics features, improvement of image quality, prediction of therapy resistance, progression-free survival, and genetic mutation. The current evidence supports the role of AI as a complementary clinical and research tool in diagnosis, patient stratification, and prediction of histopathological correlation in gynecological malignancies. For example, the high performance of AI models to discriminate between benign and malignant ovarian masses or to predict their specific histology can improve the diagnostic accuracy of imaging methods.

Comparison of the ADNEX and ROMA risk prediction models for the diagnosis of ovarian cancer: a multicentre external validation in patients who underwent surgery.

BACKGROUND: Several diagnostic prediction models to help clinicians discriminate between benign and malignant adnexal masses are available. This study is a head-to-head comparison of the performance of the Assessment of Different NEoplasias in the adneXa (ADNEX) model with that of the Risk of Ovarian Malignancy Algorithm (ROMA). METHODS: This is a retrospective study based on prospectively included consecutive women with an adnexal tumour scheduled for surgery at five oncology centres and one non-oncology centre in four countries between 2015 and 2019. The reference standard was histology. Model performance for ADNEX and ROMA was evaluated regarding discrimination, calibration, and clinical utility. RESULTS: The primary analysis included 894 patients, of whom 434 (49%) had a malignant tumour. The area under the receiver operating characteristic curve (AUC) was 0.92 (95% CI 0.88-0.95) for ADNEX with CA125, 0.90 (0.84-0.94) for ADNEX without CA125, and 0.85 (0.80-0.89) for ROMA. ROMA, and to a lesser extent ADNEX, underestimated the risk of malignancy. Clinical utility was highest for ADNEX. ROMA had no clinical utility at decision thresholds <27%. CONCLUSIONS: ADNEX had better ability to discriminate between benign and malignant adnexal tumours and higher clinical utility than ROMA. CLINICAL TRIAL REGISTRATION: clinicaltrials.gov NCT01698632 and NCT02847832.

Prediction of non-resectability in tubo-ovarian cancer patients using Peritoneal Cancer Index - A prospective multicentric study using imaging (ISAAC study).

BACKGROUND: The aim was to evaluate the performance of the Peritoneal Cancer Index (PCI) using imaging (ultrasound, contrast-enhanced computed tomography (CT), and whole-body diffusion-weighted magnetic resonance imaging (WB-DWI/MRI) in assessing peritoneal carcinomatosis and predicting non-resectability in tubo-ovarian carcinoma patients. METHODS: This was a prospective multicenter observational study. We considered all patients with suspected primary ovarian/tubal/peritoneal cancer who underwent preoperative ultrasound, CT, and WB-DWI/MRI (if available). The optimal cut off value for assessing the performance of the methods in predicting non-resectability was identified at the point at which the sensitivity and specificity were most similar. The reference standard to predict non-resectability was surgical outcome in terms of residual disease >1 cm or surgery not feasible. Agreement between imaging methods and surgical exploration in assessing sites included in the PCI score was evaluated using the Intraclass Correlation Coefficient (ICC). RESULTS: 242 patients were included from January 2020 until November 2022. The optimal PCI cut-off for predicting non-resectability for surgical exploration was >12, which achieved the best AUC of 0.87, followed by ultrasound with a cut-off of >10 and AUC of 0.81, WB-DWI/MRI with a cut-off of >12 and AUC of 0.81, and CT with a cut-off of >11 and AUC of 0.74. Using ICC, ultrasound had very high agreement (0.94) with surgical PCI, while CT and WB-DWI/MRI had high agreement (0.86 and 0.87, respectively). CONCLUSION: Ultrasound performed by an expert operator had the best agreement with surgical findings compared to WB-DWI/MRI and CT in assessing radiological PCI. In predicting non-resectability, ultrasound was non-inferior to CT, while its non-inferiority to WB-DWI/MRI was not demonstrated.

Comparison of clinical and ultrasound examinations in assessing the parametria in patients with deep infiltrating endometriosis: a multicentre prospective study.

RESEARCH QUESTION: How do clinical rectovaginal examination and transvaginal ultrasound examination perform in the diagnosis of parametrial infiltration in patients with endometriosis? DESIGN: This was a multicentre prospective observational study. Patients with suspected deep endometriosis at clinical examination and/or at ultrasound evaluation and scheduled for surgery were included. Following multicentre multidisciplinary meetings, consensus was obtained on terms and methodology to define the parametrium at pelvic anatomy, ultrasound and surgery. Sensitivity, specificity, accuracy, and positive and negative likelihood ratios were calculated for clinical and ultrasound examinations with respect to surgery. RESULTS: In total, 195 women were selected for the present study and 164 were included in the analysis. Ultrasound examination had good to high specificity (>80%) for all parameters, except the left lateral parametrium (78.8%). The sensitivity of ultrasound examination was good to high for fixity of the right and left ovaries, uterosacral ligaments, retrocervix and rectovaginal space; and low for the anterior and lateral parametria, vagina, bladder and bowel. Clinical examination had good to high specificity for fixity of the left ovary, anterior parametrium, right uterosacral ligament, retrocervix and vagina; and low specificity for fixity of the right ovary, lateral parametrium, left uterosacral ligament and rectovaginal space. The sensitivity of clinical examination was good for the uterosacral ligaments and rectovaginal space, and low for the remaining parameters. CONCLUSION: Ultrasound examination provided good specificity for all the parameters, but sensitivity was low for the anterior and lateral parametria. Clinical examination provided good specificity for the anterior and posterior parametria, but sensitivity was low for the anterior and lateral parametria. Further prospective studies are needed to validate this methodology and confirm the results.

A clinical ultrasound algorithm to identify uterine sarcoma and smooth muscle tumors of uncertain malignant potential in patients with myometrial lesions: the MYometrial Lesion UltrasouNd And mRi study.

BACKGROUND: Differential diagnosis between benign uterine smooth muscle tumors and malignant counterpart is challenging. OBJECTIVE: To evaluate the accuracy of a clinical and ultrasound based algorithm in predicting mesenchymal uterine malignancies, including smooth muscle tumors of uncertain malignant potential. STUDY DESIGN: We report the 12-month follow-up of an observational, prospective, single-center study that included women with at least 1 myometrial lesion ≥3 cm on ultrasound examination. These patients were classified according to a 3-class diagnostic algorithm, using symptoms and ultrasound features. "White" patients underwent annual telephone follow-up for 2 years, "Green" patients underwent a clinical and ultrasound follow-up at 6, 12, and 24 months and "Orange" patients underwent surgery. We further developed a risk class system to stratify the malignancy risk. RESULTS: Two thousand two hundred sixty-eight women were included and target lesion was classified as benign in 2158 (95.1%), as other malignancies in 58 (2.6%) an as mesenchymal uterine malignancies in 52 (2.3%) patients. At multivariable analysis, age (odds ratio 1.05 [95% confidence interval 1.03-1.07]), tumor diameter >8 cm (odds ratio 5.92 [95% confidence interval 2.87-12.24]), irregular margins (odds ratio 2.34 [95% confidence interval 1.09-4.98]), color score=4 (odds ratio 2.73 [95% confidence interval 1.28-5.82]), were identified as independent risk factors for malignancies, whereas acoustic shadow resulted in an independent protective factor (odds ratio 0.39 [95% confidence interval 0.19-0.82[). The model, which included age as a continuous variable and lesion diameter as a dichotomized variable (cut-off 81 mm), provided the best area under the curve (0.87 [95% confidence interval 0.82-0.91]). A risk class system was developed, and patients were classified as low-risk (predictive model value <0.39%: 0/606 malignancies, risk 0%), intermediate risk (predictive model value 0.40%-2.2%: 9/1093 malignancies, risk 0.8%), high risk (predictive model value ≥2.3%: 43/566 malignancies, risk 7.6%). CONCLUSION: The preoperative 3-class diagnostic algorithm and risk class system can stratify women according to risk of malignancy. Our findings, if confirmed in a multicenter study, will permit differentiation between benign and mesenchymal uterine malignancies allowing a personalized clinical approach.

Prediction of nonresectability using the updated Predictive Index value model assessed by imaging and surgery in tubo-ovarian cancer: a prospective multicenter ISAAC study.

BACKGROUND: A laparoscopy-based scoring system was developed by Fagotti et al (Fagotti or Predictive Index value (PIV)score) based on the intraoperative presence or absence of carcinomatosis on predefined sites. Later, the authors updated the PIV score calculated only in the absence of one or both absolute criteria of nonresectability (mesenteric retraction and miliary carcinomatosis of the small bowel) (updated PIV model). OBJECTIVE: The aim was to demonstrate the noninferiority of ultrasound to other imaging methods (contrast enhanced computed tomography (CT) and whole-body diffusion-weighted magnetic resonance imaging (WB-DWI)/MRI) in predicting nonresectable tumor (defined as residual disease >1 cm) using the updated PIV model in patients with tubo-ovarian cancer. The agreement between imaging and intraoperative findings as a reference was also calculated. STUDY DESIGN: This was a European prospective multicenter observational study. We included patients with suspected tubo-ovarian carcinoma who underwent preoperative staging and prediction of nonresectability at ultrasound, CT, WB-DWI/MRI, and surgical exploration. Ultrasound and CT were mandatory index tests, while WB-DWI/MRI was an optional test (non-available in all centers). The predictors of nonresectability were suspicious mesenteric retraction and/or miliary carcinomatosis of the small bowel or if absent, a PIV >8 (updated PIV model). The PIV score ranges from 0 to 12 according to the presence of disease in 6 predefined intra-abdominal sites (great omentum, liver surface, lesser omentum/stomach/spleen, parietal peritoneum, diaphragms, bowel serosa/mesentery). The reference standard was surgical outcome, in terms of residual disease >1 cm, assessed by laparoscopy and/or laparotomy. The area under the receiver operating characteristic curve (AUC) to assess the performance of the methods in predicting nonresectability was reported. Concordance between index tests at the detection of disease at 6 predefined sites and intraoperative exploration as reference standard was also calculated using Cohen's kappa. RESULTS: The study was between 2018 and 2022 in 5 European gynecological oncology centers. Data from 242 patients having both mandatory index tests (ultrasound and CT) were analyzed. 145/242 (59.9%) patients had no macroscopic residual tumor after surgery (R0) (5/145 laparoscopy and 140/145 laparotomy) and 17/242 (7.0%) had residual tumor ≤1 cm (R1) (laparotomy). In 80/242 patients (33.1%), the residual tumor was>1 cm (R2), 30 of them underwent laparotomy and maximum surgery was carried out, and 50/80 underwent laparoscopy only, because cytoreduction was not feasible in all of them. After excluding 18/242 (7.4%) patients operated on but not eligible for extensive surgery, the predictive performance of 3 imaging methods was analyzed in 167 women. The AUCs of all methods in discriminating between resectable and nonresectable tumor was 0.80 for ultrasound, 0.76 for CT, 0.71 for WB-DWI/MRI, and 0.90 for surgical exploration. Ultrasound had the highest agreement (Cohen's kappa ranging from 0.59 to 0.79) than CT and WB-DWI/MRI to assess all parameters included in the updated PIV model. CONCLUSION: Ultrasound showed noninferiority to CT and to WB-DWI/MRI in discriminating between resectable and nonresectable tumor using the updated PIV model. Ultrasound had the best agreement between imaging and intraoperative findings in the assessment of parameters included in the updated PIV model. Ultrasound is an acceptable method to assess abdominal disease and predict nonresectability in patients with tubo-ovarian cancer in the hands of specially trained ultrasound examiners.

Patient satisfaction with ultrasound, whole-body CT and whole-body diffusion-weighted MRI for pre-operative ovarian cancer staging: a multicenter prospective cross-sectional survey.

BACKGROUND: In addition to the diagnostic accuracy of imaging methods, patient-reported satisfaction with imaging methods is important. OBJECTIVE: To report a secondary outcome of the prospective international multicenter Imaging Study in Advanced ovArian Cancer (ISAAC Study), detailing patients' experience with abdomino-pelvic ultrasound, whole-body contrast-enhanced computed tomography (CT), and whole-body diffusion-weighted magnetic resonance imaging (WB-DWI/MRI) for pre-operative ovarian cancer work-up. METHODS: In total, 144 patients with suspected ovarian cancer at four institutions in two countries (Italy, Czech Republic) underwent ultrasound, CT, and WB-DWI/MRI for pre-operative work-up between January 2020 and November 2022. After having undergone all three examinations, the patients filled in a questionnaire evaluating their overall experience and experience in five domains: preparation before the examination, duration of examination, noise during the procedure, radiation load of CT, and surrounding space. Pain perception, examination-related patient-perceived unexpected, unpleasant, or dangerous events ('adverse events'), and preferred method were also noted. RESULTS: Ultrasound was the preferred method by 49% (70/144) of responders, followed by CT (38%, 55/144), and WB-DWI/MRI (13%, 19/144) (p<0.001). The poorest experience in all domains was reported for WB-DWI/MRI, which was also associated with the largest number of patients who reported adverse events (eg, dyspnea). Patients reported higher levels of pain during the ultrasound examination than during CT and WB-DWI/MRI (p<0.001): 78% (112/144) reported no pain or mild pain, 19% (27/144) moderate pain, and 3% (5/144) reported severe pain (pain score >7 of 10) during the ultrasound examination. We did not identify any factors related to patients' preferred method. CONCLUSION: Ultrasound was the imaging method preferred by most patients despite being associated with more pain during the examination in comparison with CT and WB-DWI/MRI. TRIAL REGISTRATION NUMBER: NCT03808792.

Transvaginal ultrasound-guided biopsy in patients with suspicious primary advanced tubo-ovarian carcinoma.

OBJECTIVE: To assess the accuracy of pathological diagnosis by transvaginal ultrasound-guided biopsy versus surgery in patients with suspicious primary advanced tubo-ovarian carcinoma. The Feasibility, adequacy, and safety of the procedure were also evaluated. METHODS: Consecutive women with pre-operative suspicious primary advanced tubo-ovarian carcinoma presenting between July 2019 and September 2021 were enrolled. Accuracy was calculated including only cases who underwent surgery. Feasibility was defined as the number of cases in which ultrasound-guided biopsy was possible according to tumor characteristics (morphology and site). Adequacy was defined as the number of conclusive diagnoses out of the samples collected. Safety was defined by the number of major complications which were defined as hospitalization, surgery, and/or blood transfusion. RESULTS: A total of 278 patients were eligible for the study; 158 were enrolled, while 120 were excluded for logistic reasons or patient refusal. Ultrasound-guided biopsy was not feasible in 30 (19%) patients. The samples obtained in the remaining 128 patients were all adequate (100%), and no major complications were noted. A total of 26 (20%) patients started neoadjuvant chemotherapy on the basis of the diagnosis obtained by ultrasound, whereas 102 (80%) patients underwent surgery. Accuracy of ultrasound-guided biopsy versus surgery was 94% (96/102), with six false negative cases at ultrasound (6%). Site (prevesical peritoneum) and size (<8 mm) of the nodules resulted as major predictive factors for ultrasound-guided biopsy failure (false negative). Ultrasound-guided biopsy correctly identified 86 primary invasive tubo-ovarian carcinomas and 10 metastatic tumors. CONCLUSION: Ultrasound-guided biopsy is a feasible, safe, and accurate method to provide histological diagnosis in suspicious advanced tubo-ovarian cancer patients.

NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.

INTRODUCTION: Mutations in the neurofilament polypeptide light chain (NEFL) gene account for <1% of all forms of Charcot-Marie-Tooth (CMT) diseases and present with different phenotypes, including demyelinating, axonal and intermediate neuropathies, and with diverse pattern of transmission, with dominant and recessive inheritance being described. METHODS: Here, we present clinical and molecular data in two new unrelated Italian families, affected with CMT. RESULTS: We studied fifteen subjects (11 women, 4 men), age range 23-62 year. Onset of symptoms was mainly in childhood, with running/walking difficulties; some patients were pauci-asymptomatic; almost all shared variably distributed features of absent/reduced deep tendon reflexes, impaired gait, reduced sensation, and distal weakness in the legs. Skeletal deformities were seldom documented and were of mild degree. Additional features included sensorineural hearing loss in 3 patients, underactive bladder in 2 patients, and cardiac conduction abnormalities, requiring pacemaker implantation, in one child. Central nervous system (CNS) impairment was not documented in any subject. Neurophysiological investigation disclosed feature suggestive of demyelinating sensory-motor polyneuropathy in one family and resembling an intermediate form in the other. Multigene panel analysis of all known CMT genes revealed two heterozygous variants in NEFL: p.E488K and p.P440L. While the latter change segregated with the phenotype, the p.E488K variant appeared to act as a modifier factor being associated with axonal nerve damage. CONCLUSIONS: CMT related to P440L mutation in NEFL is associated with a mild, childhood-onset phenotype, showing prevalently sensory distal limbs involving and with motor impairment predominantly involving anterolateral leg muscles, in the absence of CNS involvement. Additional findings, never reported so far in patients with NEFL mutation, are cardiological and urinary dysfunctions. Our study expands the array of clinical features associated with NEFL-related CMT.

Diagnostic performance of ultrasound in assessing the extension of disease in advanced ovarian cancer.

BACKGROUND: Surgical exploration remains the gold standard for evaluating the extension of disease and predicting resectability. A laparoscopy-based scoring model was developed by Fagotti and colleagues in 2006 and updated in 2015, based on the intraoperative presence or absence of some specific cancer features. The model proved an overall accuracy rate of 77% to 100% and is considered the reference test for assessing resectability in our institution. OBJECTIVE: The primary aim of the study was to analyze the agreement between preoperative ultrasound examination and laparoscopic findings in assessing the extension of intraabdominal disease using 6 parameters described by Fagotti's score. STUDY DESIGN: This was a prospective single-center observational study. Between January 2019 and June 2020, consecutive patients with clinical or radiological suspicion of ovarian or peritoneal cancer were assessed with preoperative ultrasound examination and assigned a score based on the 6 Fagotti score parameters (great omentum, liver surface, lesser omentum/stomach/spleen, parietal peritoneum, diaphragms, bowel disease). Presence of mesenteral retraction of the small bowel and miliary carcinomatosis on the serosa were also evaluated. Each parameter was correlated with laparoscopic findings. Concordance was calculated between ultrasound and laparoscopic parameters using Cohen's kappa. RESULTS: Cohen's kappa ranged from 0.70 to 0.90 for carcinomatosis on the small or large bowel, supracolic omentum, liver surface, and diaphragms. Cohen's kappa test was lower for carcinomatosis on the parietal peritoneum (k=0.63) and on the lesser omentum or lesser curvature of the stomach or spleen (k=0.54). The agreement between ultrasound and surgical predictive index value (score) was k=0.74. For the evaluation of mesenteral retraction and miliary carcinomatosis, the agreement was low (k=0.57 and k=0.36, respectively). CONCLUSION: The results of ultrasound and laparoscopy in the assessment of intraabdominal tumor spread were in substantial agreement for almost all the parameters. Ultrasound examination can play a useful role in the preoperative management of patients with ovarian cancer when used in dedicated referral centers.

Transobturator tape versus single incision sling: how are they different? Clinical outcomes and ultrasonographic features of two mid-urethral slings.

PURPOSE: Stress urinary incontinence (SUI) is usually treated with mid-urethral slings. The best approach is still debated and the relationship between slings and pelvic structures is not completely understood. The aim of this study is to identify any difference between trans-obturator tape (TOT) and single incision sling (minisling). METHODS: Patients submitted to TOT or minisling were included in the study. Q-tip and stress test, ICIQ-SF questionnaire, PGI-I validated score, and 2D/3D transvaginal ultrasound parameters were collected at 1- and 6-month follow-up. Correlations between ultrasound parameters and clinical outcomes, PGI-I and ICIq-SF, were performed. RESULTS: 61 patients were included in the study. PGI-I score was significantly lower in the minisling group than in TOT group at 1-month (p = 0.016) and 6-month follow-up (p = 0.076). The median distance between the sling and the lumen of urethra was significantly higher and the angle between the branches of the sling was significantly narrower in the minisling group. There were significant differences in distances between the sling and the bladder neck at 1-month and 6-month follow-up. An inverse correlation between angle of the branches and the Q-tip test was observed (p = 0.059 Pearson's Rho - 0.578). PGI-I correlated also with angle of the branches (p = 0.009, Pearson's Rho 0.503). CONCLUSION: Patients undergoing TOT or minisling are similarly satisfied but show differences at ultrasound exam at 1- and 6-month follow-up. Pelvic floor ultrasound could be used in a short-term follow-up to visualize the sling position and to plan the most appropriate follow-up strategy.

Ultrasound, macroscopic and histological features of serous epithelial ovarian carcinomas.

We present a video showing two cases of serous epithelial ovarian carcinomas. The first video shows clinical, ultrasound, macroscopic, and histological features of a patient with high grade serous ovarian carcinoma. The second video presents clinical, ultrasound, macroscopic, and histological features of a patient with low grade serous ovarian carcinoma.

Imaging modalities in fertility preservation in patients with gynecologic cancers.

Fertility preservation is an integral component of clinical decision-making and treatment design. However, the selection criteria on imaging for patients eligible for fertility preservation is still unclear. The present review aimed to summarize the main findings reported in both the literature and international guidelines on the role of imaging in the selection of patients for fertility preservation. A search strategy was developed and applied to PubMed, Scopus, Web of Science, and EMBASE to identify previous citations reporting imaging and fertility preservation in patients with gynecological cancer. We also retrieved the published guidelines on the eligibility criteria for fertility-sparing treatment of gynecological neoplasms. A description of the internal multidisciplinary guidelines, clinically in use in our institution, is provided with representative clinical cases. The literature review revealed 1291 articles and 18 of these were selected for the analysis. Both ultrasound and MRI represented the primary imaging methods for selecting patients for fertility preservation in cervical and endometrial cancers. Eligibility criteria of fertility-sparing management in patients with cervical cancer were: tumor size <2 cm, tumor distance from the internal os >1 cm, and no parametrium invasion. For patients with endometrial cancer, these included no myometrial and cervical stroma invasion. Both ultrasound and MRI play a key role in characterizing adnexal masses. These modalities provide a useful tool in identifying small ovarian lesions, thus key in the surveillance of patients after fertility sparing surgery. However, efficacy in excluding disease beyond the ovary remains limited. This review provides an update of the literature and schematic outline for the counseling and management of patients with the desire for fertility preservation.

Management of ovarian masses in pregnancy: patient selection for interventional treatment.

OBJECTIVE: The management of pregnant women with an adnexal tumor is still challenging and in the literature few data are available. The aim of this study was to describe the management and outcome of patients with ovarian masses detected during pregnancy. As secondary aims, we evaluated the prevalence of malignancy in the International Ovarian Tumor Analysis (IOTA) morphological classes of ovarian masses diagnosed during pregnancy, and created an algorithm for the management of patients with adnexal masses during pregnancy. METHODS: This was a retrospective single centered study including patients with adnexal masses detected at any trimester during pregnancy between January 2000 and December 2019. Clinical, ultrasound, surgical, and histological data were retrieved from medical records as well as information on management (ultrasound follow-up vs surgery). Indications for surgery were recorded in terms of suspicion of malignancy based on pattern recognition of the ultrasound examiner or on symptoms or prevention of complications, such as torsion, rupture, or obstacle to normal full-term pregnancy. All masses were described using IOTA terminology. RESULTS: A total of 113 patients were selected for the analysis. Of these, 48 (42%) patients had surveillance and 65 (58%) patients underwent surgery (11 primary ovarian tumors, one recurrence of ovarian cancer, four metastases to the ovary, 20 borderline tumors, and 29 benign lesions). Indications for surgery were suspicious malignancy in 41/65 (63.1%) cases and symptoms or prevention of complications in 24/65 (36.9%) cases. All patients in the surveillance group showed no morphological changes of the ovarian lesions at 6 months after delivery. According to the IOTA ultrasound morphological category, the prevalence of malignancy was 0% (0/37) in the unilocular cyst group, 27% (4/15) in the multilocular group, 35% (11/31) in the unilocular solid group, 70% (14/20) in the multilocular solid group, and 70% (7/10) in the solid group. Neither obstetric nor neonatal complications were reported for patients in the surveillance group or in those with benign, borderline, or primary epithelial invasive histology. In contrast, two neonatal deaths were observed in patients with ovarian choriocarcinoma and ovarian metastases. Three of the four patients with ovarian metastases died after pregnancy. CONCLUSIONS: IOTA ultrasound morphological classification seems useful in the characterization of ovarian masses during pregnancy. A clinical and morphological based algorithm for counseling patients has been designed.

Diagnostic performance of ultrasound in assessing the extension of the disease in patients with suspicion of malignant ovarian tumor: correlation between ultrasound parameters and Fagotti's score.

BACKGROUND: A radical surgical approach represents the mainstay treatment for gynecological malignancy, and preoperative staging of ovarian cancer is crucial. Ultrasound evaluation is widely recognized as the gold standard technique for the characterization of ovarian masses due to a high sensitivity for malignancy. In addition, its accuracy in defining intra-abdominal ovarian cancer spread has been previously proposed. PRIMARY OBJECTIVE: To analyze the agreement between preoperative ultrasound examination and laparoscopic findings in assessing the extension of intra-abdominal disease using six parameters as described by Fagotti's score. STUDY HYPOTHESIS: When performed by expert examiners, ultrasound can be an accurate technique to assess tumor spread in ovarian cancer and therefore to predict surgical resectability. TRIAL DESIGN: This is a single-center prospective observational study. Patients with clinical and/or radiological suspicion of advanced ovarian or peritoneal cancer will be assessed with preoperative ultrasound and assigned a score based on the six Fagotti's laparoscopic score parameters. Each parameter will then be correlated with laparoscopic findings. MAJOR INCLUSION/EXCLUSION CRITERIA: Eligible patients include women 18-75 years of age with clinical and/or imaging suggestive of advanced ovarian or peritoneal cancer, and an ECOG performance status 0-3. PRIMARY ENDPOINTS: Sensitivity and specificity of ultrasound in detecting carcinomatosis, using the parameters of Fagotti's score as a reference standard. Agreement between preoperative ultrasound examination and laparoscopic findings in assessing the extension of intra-abdominal disease as described in Fagotti's score. SAMPLE SIZE: 240 patients. ESTIMATE DATES FOR COMPLETING ACCRUAL AND PRESENTING RESULTS: The accrual started in January 2019. Enrollment should be completed approximately by October 2020 and the results will be analyzed by December 2020. TRIAL REGISTRATION: The study received the Ethical Committee approval on July 19 2018 (Protocol 28967/18 ID:2172).

Clinical and ultrasound characteristics of vaginal lesions.

OBJECTIVE: Ultrasound examination represents the most important diagnostic method to preoperatively assess gynecological diseases. However, the ultrasound characteristics of vaginal pathologies are poorly investigated. The aim of this study was to describe the clinical and ultrasound characteristics of vaginal lesions detected at ultrasound. METHODS: This was a single center, prospective, observational study including patients with vaginal masses examined from January 2017 to May 2019. Morphologic sonographic characteristics of the lesions were described as unilocular, multilocular, unilocular-solid, multilocular-solid, and solid. For the analysis, patients were grouped into a 'malignant group', including patients with confirmed malignancy at final histology, and a 'benign group', including patients with a confirmed benign pathology at final histology and patients without a histological diagnosis but with a lesion that manifested no changes during follow-up. RESULTS: 44 patients were enrolled. 22 (50%) of 44 lesions were benign: 12 (54.5%) of these underwent ultrasound follow-up and did not show any changes at the 12 month follow-up whereas 10 (45.5%) lesions had surgical excision which confirmed the benign nature. The remaining 22 (50%) of 44 lesions underwent surgery because of suspicion of malignancy: histology confirmed a malignancy in 20 (90.9%) of 22 cases. Benign lesions were described as follow: 11/24 (45.8%) unilocular, 3/24 (12.5%) multilocular with two locules, and 10/24 (41.7%) solid lesions. Malignant lesions were solid in 19/20 (95%) cases and multilocular-solid in 1/20 (5%). Most benign lesions had a color score of 1-2 (20/24, 83.4%) while malignant lesions had a color score of 3-4 (18/20, 90%). CONCLUSION: A typical ultrasound image of a benign lesion was a unilocular cyst or hypoechoic solid mass with no or minimal vascularization on color Doppler examination. Malignant vaginal lesions were hypoechoic solid tumors with irregular margins and moderate/rich vascularization or multilocular-solid. Ultrasound should be used to supplement the clinician in the management of vaginal lesions.

Customized multigene panels in epilepsy: the best things come in small packages.

Over the past 10 years, the increasingly important role played by next-generation sequencing panels in the genetic diagnosis of epilepsy has led to a growing list of gene variants and a plethora of new scientific data. To date, however, there is still no consensus on what constitutes the "ideal panel design," or on the most rational criteria for selecting the best candidates for gene-panel analysis, even though both might optimize the cost-benefit ratio and the diagnostic efficiency of customized gene panels. Even though more and more laboratories are adopting whole-exome sequencing as a first-tier diagnostic approach, interpreting, "in silico," a set of epilepsy-related genes remains difficult. In the light of these considerations, we performed a systematic review of the targeted gene panels for epilepsy already reported in the available scientific literature, with a view to identifying the best criteria for selecting patients for gene-panel analysis, and the best way to design an "ideal," gold-standard panel that includes all genes with an established role in epilepsy pathogenesis, as well as those that might help to guide decisions regarding specific medical interventions and treatments. Our analyses suggest that the usefulness and diagnostic power of customized gene panels for epilepsy may be greatest when these panels are confined to rationally selected, relatively small, pools of genes, and applied in more carefully selected epilepsy patients (those with complex forms of epilepsy). A panel containing 64 genes, which includes the 45 genes harboring a significant number of pathogenic variants identified in previous literature, the 32 clinically actionable genes, and the 21 ILAE (International League Against Epilepsy) recommended genes, may represent an "ideal" core set likely able to provide the highest diagnostic efficiency and cost-effectiveness and facilitate gene prioritization when testing patients with whole-exome/whole-genome sequencing.

The diagnosis of pneumonia in a pregnant woman with coronavirus disease 2019 using maternal lung ultrasound.

Lung ultrasound examination has been demonstrated to be an accurate imaging method to detect pulmonary and pleural conditions. During pregnancy, there is a need for rapid assessment of the maternal lung in patients with suspected coronavirus disease 2019. We report our experience on lung ultrasound examination in the diagnosis of coronavirus disease 2019 pneumonia in a pregnant woman. Typical ultrasound features of this pulmonary pathology, including diffuse hyperechoic vertical artifacts with thickened pleural line and "white lung" with patchy distribution, were observed. We suggest point-of-care lung ultrasound examination as a diagnostic imaging tool in pregnant women with suspected coronavirus disease 2019.

Role of transvaginal ultrasound-guided biopsy in gynecology.

BACKGROUND: Ultrasound-guided biopsy is an easy technique for obtaining tissue samples. It is commonly used for different types of tumors, such as breast and prostate cancers, in order to plan early and adequate treatment. OBJECTIVE: To evaluate the indications, adequacy, and safety of transvaginal ultrasound-guided biopsy in women with pelvic lesions suspected of gynecologic malignancy. METHODS: A retrospective study including all patients who had undergone transvaginal ultrasound-guided biopsy between April 2015 and May 2018 was carried out at the division of gynecologic oncology. Inclusion criteria were the presence at imaging of abdominal or pelvic tumors in patients considered not ideal candidates for primary gynecological surgery, or the origin and/or nature of the tumor was unclear and further management required histological verification. Patients with planned surgery were excluded from the study. Transvaginal biopsies were performed with a 18 G/25 cm core-cut biopsy needle and histology was obtained. Tru-cut biopsies were performed using an automatic bioptic gun with a 18 G/25 cm core-cut biopsy needle. Results are presented as absolute frequency (percentage) for nominal variables and as median (range) for continuous variables. RESULTS: A total of 62 women were analyzed. An adequate sample for histological analysis was obtained in all cases. Histopathological examinations showed 24 (38.7%) benign lesions (fibrosis, inflammation, uterine or ovarian myoma) and 38 (61.3%) malignant tumors, distributed as follows: 34 (89.5%) malignant gynecological lesions and 4 (10.5%) non-gynecological malignant tumors. Among the malignant lesions, there were 12/38 (31.6%) primary tumors, 24/38 (63.2%) recurrent tumors, and 2/38 (5.3%) metastases from non-genital cancer. Ten patients eventually underwent surgery. Final histology was not in agreement with the results from transvaginal ultrasound-guided biopsy in 2 of 10 patients (20%); in particular, benign disease at transvaginal ultrasound-guided biopsy was malignant at final histology (two cases of recurrence of cervical cancer). Three patients (4.8%) had pain during the procedure, which was controlled by oral analgesic therapy and lasted for no longer than 10 min. No major complications were registered. CONCLUSIONS: Transvaginal ultrasound-guided biopsy is a minimally invasive method to obtain adequate material for histological diagnosis and could avoid unnecessary surgical procedures, costly CT-guided procedures, or prolonged waiting times.

Fusion imaging of ultrasound and MRI in the assessment of locally advanced cervical cancer: a prospective study.

BACKGROUND: Fusion imaging is a new diagnostic method that integrates MRI and ultrasound. It may improve the detection and staging of locally advanced cervical cancer. OBJECTIVE: To evaluate the feasibility and accuracy of fusion imaging in patients with locally advanced cervical cancer. METHODS: Patients with suspicion of locally advanced cervical cancer at clinical examination and/or imaging, who were candidates for neoadjuvant treatment (chemotherapy or chemoradiation) followed by surgery, were prospectively enrolled between March and November 2018. MRI, ultrasound, and fusion images were obtained before and after neoadjuvant treatment. Feasibility, success of the fusion examination, and time needed to perform fusion studies were evaluated. The rates of concordance between MRI and ultrasound before and after performing fusion, using Cohen, Spearman, and McNemar tests were calculated. The agreement between MRI and ultrasound examination, and the agreement between radiologist and gynecologist during the fusion technique in assessing local extension of disease and the presence of residual disease after neoadjuvant therapy, were also analyzed. The rates of concordance between MRI and ultrasound examination before and after performing fusion imaging, using Cohen's kappa and Spearman's rank correlation coefficient were calculated. A McNemar test was used to assess if there were statistical significant differences in the parameters' agreement before and after performing fusion imaging. RESULTS: 40 patients were selected and of these, 33 were analyzed. A total of 52 fusion examinations were performed: 33 (63.5%) of 52 at the time of diagnosis and 19 (36.5%) of 52 after neoadjuvant treatment. Fusion imaging was feasible in 50 (96%) of 52 studies. The median overall time of fusion execution was 13 min (range 6-30) and the time spent in performing a fusion examination decreased from the first to the last examination (20 vs 6 min). The agreement between MRI and ultrasound parameters increased after performing fusion, particularly for parametrial infiltration (74% vs 86%, p=0.014 for the right posterior parametrium; 66% vs 80%, p=0.008 for the left posterior parametrium, 70% vs 82%, p=0.014 for the right lateral parametrium). CONCLUSIONS: Fusion of MRI and ultrasound is feasible in patients with locally advanced cervical cancer and may increase the diagnostic accuracy of the single imaging methods. Fusion provides multiple diagnostic opportunities in gynecological oncology.