Learning deep architectures for the interpretation of first-trimester fetal echocardiography (LIFE) - a study protocol for developing an automated intelligent decision support system for early fetal echocardiography.

BACKGROUND: Congenital Heart Disease represents the most frequent fetal malformation. The lack of prenatal identification of congenital heart defects can have adverse consequences for the neonate, while a correct prenatal diagnosis of specific cardiac anomalies improves neonatal care neurologic and surgery outcomes. Sonographers perform prenatal diagnosis manually during the first or second-trimester scan, but the reported detection rates are low. This project's primary objective is to develop an Intelligent Decision Support System that uses two-dimensional video files of cardiac sweeps obtained during the standard first-trimester fetal echocardiography (FE) to signal the presence/absence of previously learned key features. METHODS: The cross-sectional study will be divided into a training part of the machine learning approaches and the testing phase on previously unseen frames and eventually on actual video scans. Pregnant women in their 12-13 + 6 weeks of gestation admitted for routine first-trimester anomaly scan will be consecutively included in a two-year study, depending on the availability of the experienced sonographers in early fetal cardiac imaging involved in this research. The Data Science / IT department (DSIT) will process the key planes identified by the sonographers in the two- dimensional heart cine loop sweeps: four-chamber view, left and right ventricular outflow tracts, three vessels, and trachea view. The frames will be grouped into the classes representing the plane views, and then different state-of-the- art deep-learning (DL) pre-trained algorithms will be tested on the data set. The sonographers will validate all the intermediary findings at the frame level and the meaningfulness of the video labeling. DISCUSSION: FE is feasible and efficient during the first trimester. Still, the continuous training process is impaired by the lack of specialists or their limited availability. Therefore, in our study design, the sonographer benefits from a second opinion provided by the developed software, which may be very helpful, especially if a more experienced colleague is unavailable. In addition, the software may be implemented on the ultrasound device so that the process could take place during the live examination. TRIAL REGISTRATION: The study is registered under the name "Learning deep architectures for the Interpretation of Fetal Echocardiography (LIFE)", project number 408PED/2020, project code PN-III-P2-2.1-PED-2019. TRIAL REGISTRATION: ClinicalTrials.gov , unique identifying number NCT05090306, date of registration 30.10.2020.

Addressing Chronic Gynecological Diseases in the SARS-CoV-2 Pandemic.

Introduction: the COVID-19 pandemic has had a considerable impact on healthcare systems worldwide. Since the actual influence of the pandemic on gynecological care is still unclear, we aim to evaluate the effect of the SARS-CoV-2 pandemic on gynecological procedures compared to the pre-pandemic period in Romania. Materials and Methods: this is a single-center retrospective observational study, involving patients hospitalized in the year before the SARS-CoV-2 pandemic (PP), in the first year of the pandemic (P1), and in the second year of the pandemic until February 2022 (P2). The percentages of interventions were analyzed globally but also according to the type of surgery applied on the female genital organs. Results: during pandemic, the number of gynecological surgeries dropped considerably, by more than 50% in some cases, or even decreased by up to 100%, having a major impact on women's health, especially in the first year of the pandemic (P1), before slightly increasing in the post-vaccination period (PV). Surgically treated cancer cases dropped by over 80% during the pandemic, and the consequences of this will be seen in the future. Conclusions: the COVID-19 pandemic played an important part in gynecological care management in the Romanian public health care system, and the effect will have to be investigated in the future.

Specific Local Predictors That Reflect the Tropism of Endometriosis-A Multiple Immunohistochemistry Technique.

Ectopic endometrial epithelium associates a wide spectrum of symptomatology. Their evolution can be influenced by inflammatory and vascular changes, that affect not only the structure and cell proliferation rate, but also symptoms. This prospective study involved tissue samples from surgically treated patients, stained using classical histotechniques and immunohistochemistry. We assessed ectopic endometrial glands (CK7+, CK20-), adjacent blood vessels (CD34+), estrogen/progesterone hormone receptors (ER+, PR+), inflammatory cells (CD3+, CD20+, CD68+, Tryptase+), rate of inflammatory cells (Ki67+) and oncoproteins (BCL2+, PTEN+, p53+) involved in the development of endometriosis/adenomyosis. A CK7+/CK20- expression profile was present in the ectopic epithelium and differentiated it from digestive metastases. ER+/PR+ were present in all cases analyzed. We found an increased vascularity (CD34+) in the areas with abdominal endometriosis and CD3+-:T-lymphocytes, CD20+-:B-lymphocytes, CD68+:macrophages, and Tryptase+: mastocytes were abundant, especially in cases with adenomyosis as a marker of proinflammatory microenvironment. In addition, we found a significantly higher division index-(Ki67+) in the areas with adenomyosis, and inactivation of tumor suppressor genes-p53+ in areas with neoplastic changes. The inflammatory/vascular/hormonal mechanisms trigger endometriosis progression and neoplastic changes increasing local pain. Furthermore, they may represent future therapeutic targets. Simultaneous-multiple immunohistochemical labelling represents a valuable technique for rapidly detecting cellular features that facilitate comparative analysis of the studied predictors.

The Influence of SARS-CoV-2 Pandemic in the Diagnosis and Treatment of Cervical Dysplasia.

Background and objectives. The risk of developing invasive cancer increased during the COVID-19 pandemic, especially in Romania, where the incidence of this disease is high due to limited medical education and broad screening. This study's objective is to analyze the number of patients admitted with different types of cervical dysplasia and the treatment applied for the lesions during the SARS-CoV-2 pandemic compared to the same period for the year before the pandemic. Materials and methods: This is a retrospective study that took place in the Obstetrics and Gynecology Clinics I/II (OG I/II) of the Emergency County Hospital of Craiova during the SARS-CoV-2 pandemic (SP) (15.03.2020-14.03.2021) and in the 12 months before (non-pandemic period) (NPP) (15.03.2019-14.03.2020). The study includes 396 patients with pathological PAP smear results. All the patients included in this study were clinically examined and with colposcopy. The patients with Low-Grade Dysplasia were managed in a conservatory manner and reevaluated after six months. The patients with High-Grade Dysplasia were admitted for an excisional biopsy of the lesion. The excised fragments were sent to the Pathological Anatomy Laboratory for a histopathological examination. Results: This study reveals a decrease of more than half in the number of patients admitted with cervical intraepithelial neoplasia (CIN) lesions during the pandemic compared to the same period of the year before. The number of biopsies and excisional procedures has been decreasing by more than a factor of three during the pandemic period compared to the year before. Conclusion: During the SARS-CoV-2 pandemic, we found that the patients' admission rate, diagnosis, and treatment was almost four times lower. As hospital restrictions were not dictated for cancer/precancer management during SP, we may assume that the differences were due to the fear of becoming infected with SARS-CoV-2 due to hospitalization. In the context of poor screening performance and high cervical cancer incidence, the influence of the SP may result in a further increase of severe cases related to this condition.

Twelve Weeks of Reversed Umbilical Flow in a Fetal Growth Restriction Case Associated with Severe Periconceptional Maternal Anemia.

We present a case of a patient diagnosed with severe intrauterine growth restriction and periconceptional severe anemia, where the fetal well-being features, including reversal of umbilical artery end-diastolic flow and abnormal cerebroplacental ratio, remained stationary for 12 weeks. We are not aware of reports with similar findings, and the professionals should take into consideration the possibility of a "frozen" fetal well-being for a long time. Possibly, in our case, the evolution may be due to the prompt correction of the chronic severe maternal anemia. This approach may offer the opportunity to prolong the pregnancy, even in cases with apparently imminent delivery, as the association of reversal of umbilical artery end-diastolic flow.

Prenatal Diagnosis and Prognosis of Abdominal Arteriovenous Fistulae: A Comprehensive Case Series and Systematic Review.

This study had two main objectives. Firstly, we conducted a thorough literature review on the prenatal diagnosis of abdominal congenital arteriovenous fistulas (CAVFs) involving the abdominal aorta and hepatic arteries. Secondly, we aimed to provide detailed descriptions of eight additional cases diagnosed at our medical center and assess the outcome of this anomaly for informed counseling. We conducted a systematic search of online databases using specific keywords like "outcome", "ultrasound", "intrahepatic fistulae", and "fetal venous anomalies", focusing on studies published between 1998 and 2023. We selected 10 relevant articles and analyzed 13 cases. Additionally, we conducted a five-year prospective study in two referral centers, identifying eight CAVF cases with an incidence rate of 0.16%. Among the 21 cases evaluated, 11 resulted in live births, all of which received treatment. However, four cases (36.3%) had poor postnatal outcomes and neonatal demise due to heart failure. Prenatal signs of poor fetal hemodynamics, including cardiomegaly or hydrops, were observed in 52.3% of cases, regardless of outcome. Our findings highlight the rarity of this vascular malformation and emphasize the importance of effective treatment to avoid unfavorable outcomes. The long-term effectiveness of prenatal treatment or postnatal embolization remains uncertain, with liver transplantation being considered the most reliable treatment option.

Pattern Recognition and Anomaly Detection in fetal morphology using Deep Learning and Statistical learning (PARADISE): protocol for the development of an intelligent decision support system using fetal morphology ultrasound scan to detect fetal congenital anomaly detection.

INTRODUCTION: Congenital anomalies are the most encountered cause of fetal death, infant mortality and morbidity. 7.9 million infants are born with congenital anomalies yearly. Early detection of congenital anomalies facilitates life-saving treatments and stops the progression of disabilities. Congenital anomalies can be diagnosed prenatally through morphology scans. A correct interpretation of the morphology scan allows a detailed discussion with the parents regarding the prognosis. The central feature of this project is the development of a specialised intelligent system that uses two-dimensional ultrasound movies obtained during the standard second trimester morphology scan to identify congenital anomalies in fetuses. METHODS AND ANALYSIS: The project focuses on three pillars: committee of deep learning and statistical learning algorithms, statistical analysis, and operational research through learning curves. The cross-sectional study is divided into a training phase where the system learns to detect congenital anomalies using fetal morphology ultrasound scan, and then it is tested on previously unseen scans. In the training phase, the intelligent system will learn to answer the following specific objectives: (a) the system will learn to guide the sonographer's probe for better acquisition; (b) the fetal planes will be automatically detected, measured and stored and (c) unusual findings will be signalled. During the testing phase, the system will automatically perform the above tasks on previously unseen videos.Pregnant patients in their second trimester admitted for their routine scan will be consecutively included in a 32-month study (4 May 2022-31 December 2024). The number of patients is 4000, enrolled by 10 doctors/sonographers. We will develop an intelligent system that uses multiple artificial intelligence algorithms that interact between themselves, in bulk or individual. For each anatomical part, there will be an algorithm in charge of detecting it, followed by another algorithm that will detect whether anomalies are present or not. The sonographers will validate the findings at each intermediate step. ETHICS AND DISSEMINATION: All protocols and the informed consent form comply with the Health Ministry and professional society ethics guidelines. The University of Craiova Ethics Committee has approved this study protocol as well as the Romanian Ministry of Research Innovation and Digitization that funded this research. The study will be implemented and reported in line with the STROBE (STrengthening the Reporting of OBservational studies in Epidemiology) statement. TRIAL REGISTRATION NUMBER: The study is registered under the name 'Pattern recognition and Anomaly Detection in fetal morphology using Deep Learning and Statistical Learning', project number 101PCE/2022, project code PN-III-P4-PCE-2021-0057. TRIAL REGISTRATION: ClinicalTrials.gov, unique identifying number NCT05738954, date of registration: 2 November 2023.

Artificial Intelligence in Obstetric Anomaly Scan: Heart and Brain.

BACKGROUND: The ultrasound scan represents the first tool that obstetricians use in fetal evaluation, but sometimes, it can be limited by mobility or fetal position, excessive thickness of the maternal abdominal wall, or the presence of post-surgical scars on the maternal abdominal wall. Artificial intelligence (AI) has already been effectively used to measure biometric parameters, automatically recognize standard planes of fetal ultrasound evaluation, and for disease diagnosis, which helps conventional imaging methods. The usage of information, ultrasound scan images, and a machine learning program create an algorithm capable of assisting healthcare providers by reducing the workload, reducing the duration of the examination, and increasing the correct diagnosis capability. The recent remarkable expansion in the use of electronic medical records and diagnostic imaging coincides with the enormous success of machine learning algorithms in image identification tasks. OBJECTIVES: We aim to review the most relevant studies based on deep learning in ultrasound anomaly scan evaluation of the most complex fetal systems (heart and brain), which enclose the most frequent anomalies.

A deep learning approach to identify the fetal head position using transperineal ultrasound during labor.

OBJECTIVES: To develop a deep learning (DL)-model using convolutional neural networks (CNN) to automatically identify the fetal head position at transperineal ultrasound in the second stage of labor. MATERIAL AND METHODS: Prospective, multicenter study including singleton, term, cephalic pregnancies in the second stage of labor. We assessed the fetal head position using transabdominal ultrasound and subsequently, obtained an image of the fetal head on the axial plane using transperineal ultrasound and labeled it according to the transabdominal ultrasound findings. The ultrasound images were randomly allocated into the three datasets containing a similar proportion of images of each subtype of fetal head position (occiput anterior, posterior, right and left transverse): the training dataset included 70 %, the validation dataset 15 %, and the testing dataset 15 % of the acquired images. The pre-trained ResNet18 model was employed as a foundational framework for feature extraction and classification. CNN1 was trained to differentiate between occiput anterior (OA) and non-OA positions, CNN2 classified fetal head malpositions into occiput posterior (OP) or occiput transverse (OT) position, and CNN3 classified the remaining images as right or left OT. The DL-model was constructed using three convolutional neural networks (CNN) working simultaneously for the classification of fetal head positions. The performance of the algorithm was evaluated in terms of accuracy, sensitivity, specificity, F1-score and Cohen's kappa. RESULTS: Between February 2018 and May 2023, 2154 transperineal images were included from eligible participants across 16 collaborating centers. The overall performance of the model for the classification of the fetal head position in the axial plane at transperineal ultrasound was excellent, with an of 94.5 % (95 % CI 92.0--97.0), a sensitivity of 95.6 % (95 % CI 96.8-100.0), a specificity of 91.2 % (95 % CI 87.3-95.1), a F1-score of 0.92 and a Cohen's kappa of 0.90. The best performance was achieved by the CNN1 - OA position vs fetal head malpositions - with an accuracy of 98.3 % (95 % CI 96.9-99.7), followed by CNN2 - OP vs OT positions - with an accuracy of 93.9 % (95 % CI 89.6-98.2), and finally, CNN3 - right vs left OT position - with an accuracy of 91.3 % (95 % CI 83.5-99.1). CONCLUSIONS: We have developed a DL-model capable of assessing fetal head position using transperineal ultrasound during the second stage of labor with an excellent overall accuracy. Future studies should validate our DL model using larger datasets and real-time patients before introducing it into routine clinical practice.

Confirmation of Heart Malformations in Fetuses in the First Trimester Using Three-Dimensional Histologic Autopsy.

BACKGROUND: We aimed to evaluate the usefulness of three-dimensional (3D) reconstruction of histology slides to confirm congenital heart disease (CHD) detected by first-trimester fetal cardiac ultrasonography. Conventional autopsy is hindered by the small size of the first-trimester fetal heart, and current CHD confirmation studies employ the use of highly specialized and expensive methods. TECHNIQUE: An extended first-trimester ultrasound examination protocol was used to diagnose fetal heart anomalies. Medical termination of pregnancies was followed by fetal heart extraction. The specimens were sliced, and the histology slides were stained and scanned. The resulting images were processed, and volume rendering was performed using 3D reconstruction software. The volumes were analyzed by a multidisciplinary team of maternal-fetal medicine subspecialists and pathologists and compared with ultrasound examination findings. EXPERIENCE: Six fetuses with heart malformations were evaluated using histologic 3D imaging: two with hypoplastic left heart syndrome, two with atrioventricular septal defects, one with an isolated ventricular septal defect, and one with transposition of the great arteries. The technique allowed us to confirm ultrasound-detected anomalies and also identified additional malformations. CONCLUSION: After pregnancy termination or loss, histologic 3D imaging can be used to confirm the presence of fetal cardiac malformations detected during first-trimester ultrasound examination. Additionally, this technique has the potential to refine the diagnosis for counseling regarding recurrence risk and retains the advantages of standard histology.

Prenatal Diagnosis and Outcome of Umbilical-Portal-Systemic Venous Shunts: Experience of a Tertiary Center and Proposal for a New Complex Type.

Aims: To share our experience in the prenatal diagnosis of umbilical-portal-systemic venous shunts (UPSVS) and to study the prognostic factors for proper prenatal and perinatal management. Material and Methods: A five-year prospective study regarding the detection of UPSVS was conducted in two referral centers, Medgin Ginecho Clinic and the Prenatal Diagnostic Unit of the tertiary center, University Emergency County Hospital Craiova, Romania. We included in the analysis a series of agenesis of ductus venosus (ADV) cases previously reported by our center. We analyzed the incidence of the UPSVS types, their associations, and outcome predictors. Results: UPSVS were diagnosed in all 16 cases that were presented to our center at the time of first trimester anomaly scan, except one (94.12%). We diagnosed: 19 type I (61.2%), 4 type II (12.9%) and 5 type IIIa (16.1%) UPSVS. In three cases (9.6%) we noted multiple shunts, which we referred to as type IV (a new UPSVS type). Type IIIa-associated fetal growth restriction (FGR) was found in 60% of cases. Major anomalies worsened the outcome. Of the UPVSS cases, 57.1% were associated with PVS anomalies. Genetic anomalies were present in 40% of the tested cases. Conclusions: The incidence of UPSVS in our study was 0.2%. Early detection is feasible. The postnatal outcome mainly depends on the presence of structural, genetic and PVS anomalies. FGR may be associated. The new category presented a poor outcome secondary to poor hemodynamic and major associated anomalies.

Feasibility of Fetal Portal Venous System Ultrasound Assessment at the FT Anomaly Scan.

OBJECTIVE: To investigate the feasibility of the first trimester (FT) ultrasound scan (US) for the evaluation of the fetal portal venous system (PVS) anatomy, and to evaluate the potential of microcopy for a proper pathology evaluation for the PVS in the FT. METHODS: We evaluated the PVS in 200 scan examinations performed in FT pregnancy. Half of the cases were scanned by two operators with extensive experience in obstetric ultrasound-Group I, and the other half was evaluated by two sonographers with less experience-Group II. Second-trimester US and autopsy in terminated pregnancies were used as follow-up. The pathologic evaluation was supported by microscopy. RESULTS: all PVS features were successfully assessed by transabdominal ultrasound (TAUS) in 27% of the Group I cases and 14% in Group II. These rates increased to 88% in Group I and in 72% in Group II, after rescanning and using transvaginal ultrasound (TVUS). The conditions that led to rescanning and TVUS were: BMI greater than 24 in 26% cases, unfavorable fetal position (12.32%), retroverted uterus (12.32%), abdominal scar (10.96%), fibroids (4.11%), and combinations of the above (34.23%). The L-shaped UV confluence was identified transabdominally in 91% in Group I and in 79% in Group II and increased to 98% and 95%, respectively, following reevaluations. Microscopy represented a useful audit in all FT investigated cases. CONCLUSIONS: At the end of the FT, the visualization of a normal L-shaped UV confluence, that excludes major PVS abnormalities, is achievable in approx. 80%, indifferently the examiners experience. The sonographers experience, pregnant women BMI, and uterine anomalies as fibroids or retroversion significantly affect the rate of visualization, and necessitates vaginal approach and reexamination. The FT pathology, the audit of the ultrasound findings can only be performed microscopically, with relatively little resources involved and good results.

The Value of Fetal Head Station as a Delivery Mode Predictor in Primiparous Women at Term before the Onset of Labor.

OBJECTIVE: Our objective was to demonstrate the role of the clinical determination of fetal head station (FHS) at term to predict the delivery mode in primiparous women before the onset of labor. METHODS: This prospective study included unselected primiparous women at term who presented at our tertiary maternity. We excluded multiparous patients, pregnancies with a planned Cesarean section, non-cephalic presentations, and multiple pregnancies. The protocol included weekly clinical examinations to assess the FHS. The results were used to describe the clinical fetal head descent at term. We correlated the fetal head station determinations at each week with labor outcome, including the evaluations performed within the week before delivery. RESULTS: The data show no significant differences between vaginal (VD) and Cesarean section delivery (CS) cases regarding FHS determined at each week at term. The median determinations at the gestational ages (GW) from 37 to 41 were -2 and -3, similar between the two groups, with a more consistent difference at 41 GW: station -1 for VD compared to -3 for CS. There were significant differences between the "week before delivery" evaluations of the two groups. The determinations showed for both groups similar minimum (-5), maximum (+1), and median (-2) FHS values. Most vaginal deliveries cases presented at weekly examinations with increasing rates toward more advanced stations: from 10% at station -4 to 35% at station -1. Although we investigated a low-risk group, we found significant differences between the vaginal and Cesarean groups in terms of age, weight, and BMI. We provided a multiple logistic regression equation that considered the predictive clinical variables at term: the fetal head situation, age, weight, height, and BMI. CONCLUSION: The clinical evaluation of fetal head station in primiparous before labor onset has a limited value regarding the prediction of the delivery mode. There is a potential benefit for the determinations performed within the week before delivery, but such a policy would require weekly assessments of the FHS at term, which is unlikely to be implemented. Another potential benefit would involve estimating labor outcomes in late-term or prolonged pregnancy. The fine tuning of the logistic prediction should be achieved by increasing the studied population and the number of centers involved before counseling primiparous women at term based on the clinical fetal engagement data.

Intrauterine Transmission of Hepatitis C Virus Concomitant with Isolated Severe Fetal Ascites.

BACKGROUND: Perinatal Hepatitis C Virus (HCV) transmission occurs in 4-7% of the cases with detectable viremia at delivery. HCV testing in pregnancy is recommended. The fetal infection was previously described as asymptomatic although there are two cases, including this one, to report the presence of isolated fetal ascites in HCV infected fetuses. CASE REPORT: A 42-year-old patient, 3G, 3P, presented in the Emergency Room for painful uterine contraction. The third-trimester ultrasound examination noted severe fetal ascites, accompanied by hyperechoic bowels and polyhydramnios. The diagnosis required a detailed ultrasound exam, invasive testing (amniocentesis, cordocentesis, and fetal paracentesis), and a complete workup. The mother tested positive for HCV antibodies, and the fetal cord blood tested positive for HCV RNA. The ascites resolved after paracentesis, and the gastrointestinal and respiratory functions markedly improved. The fetus was delivered at term in good condition. CONCLUSIONS: The etiology of isolated fetal ascites is broad. This case may indicate that intrauterine HCV transmission is a potential cause of isolated fetal ascites in the absence of other explanation, and isolated fetal ascites can be the only sign revealed on a routine examination. We suspected, having no other detected cause for ascites, the intrauterine transmission of HCV. Invasive procedures, such as paracentesis, are required for abdominal decompression to manage isolated fetal ascites, as it may be a saving procedure. A genetic investigation is needed, and a good neonatal outcome is expected in the absence of fetal structural or genetic abnormalities, as in our case.

Impact of COVID-19 on fertility and assisted reproductive technology (ART): a systematic review.

The appearance of coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been a major obstacle for the performing of current medical activities throughout the world. COVID-19 has affected humanity in many ways, thus causing a great medical, social, economic, and political instability. The aim of this study was to make an analysis of the scientific data obtained by so far to highlight the impact that COVID-19 has had on fertility and assisted reproductive technology (ART). Infection with SARS-CoV-2 alters the normal immune response by local and systemic damage to tissues and organs. After the virus enters the body, the first lesions are produced in the respiratory tract. Extrapulmonary lesions specific to COVID-19 include acute renal lesions/acute kidney damage, hepatocellular lesions, neurological diseases, myocardial dysfunction and arrhythmia, gastrointestinal diseases but also genital impairment. The possible impairment of the male reproductive system is because angiotensin-converting enzyme 2 (ACE2) receptors are in an increased number in the testes, seminiferous duct cells, spermatogonia, Leydig cells and Sertoli cells. Many published studies to date have pointed out that COVID-19 could also affect female fertility and disrupt the functions of the female reproductive system. The theory that this virus can also be transmitted sexually and can cause infertility or testicular damage is supported by the fact that the virus can be isolated in the semen of COVID-19 patients but only during the disease. Choosing the best method of treating infertility during the COVID-19 pandemic is multifactorial, but the risk of infection and compliance with specific ART hygiene protocols must always be considered. Currently, there is no scientific basis regarding the fact that the COVID-19 vaccination would influence fertility.

Ductus Venosus Agenesis and Portal System Anomalies-Association and Outcome.

To evaluate the prenatal diagnosis of agenesis of ductus venosus (ADV) and portal venous system (PVS) anomalies and describe the outcome of these cases, either isolated or associated. We evaluated the intrahepatic vascular system regarding the presence of normal umbilical drainage and PVS characteristics in the second and third trimester of pregnancy. The associated anomalies and umbilical venous drainage were noted. Follow-up was performed at six months follow-up. Ultrasonography was performed in 3517 cases. A total of 19 cases were prenatally diagnosed: 18 ADV cases, seven abnormal PVS cases, and six associations of the two anomalies. We noted an incidence of 5.1‱ and 1.9‱ for ADV and PVS anomalies, respectively. Out of the 18 ADV cases, 27.7% were isolated. Five cases (26.3%) presented genetic anomalies. PVS anomalies were found in 33.3% of the ADV cases. ADV was present in 85.7% of the PVS anomalies. DV and PVS abnormalities were found with a higher than reported frequency. Normal DV is involved in the normal development of the PVS. Additional fetal anomalies are the best predictor for the outcome of ADV cases. Evaluation of PVS represents a powerful predictor for ADV cases and addresses the long-term prognosis.

Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report.

Distal trisomy or duplication of 15q is a very rare chromosomal disorder; most of the previously reported cases were derived from unbalanced translocations involving chromosome 15 and another chromosome, whereas other mechanisms (e.g. duplication) have rarely been reported. We herein report a very rare prenatal case of a partial 15q trisomy, a 42.64-Mb duplication of 15q22.2-q26.3, arising from a maternal pericentric inversion of chromosome 15 (p11q22) that was not the result of an unbalanced translocation or duplication, and was not associated with concomitant partial monosomy. Fetal ultrasound revealed isolated thickened nuchal translucency at 12 weeks and multiple abnormalities in the second trimester, including early growth restriction, unilateral ventriculomegaly, narrow cavum septi pellucidi with hypoplasia of the corpus callosum, unilateral postaxial polydactyly, clenched hands and clubfoot with clawing of the toes, and a particular general dysplastic and hypotrophic aspect of the heart. The distinctive aspects of the present case may help to refine the phenotype associated with distal duplication 15q. To the best of our knowledge, this is the first report of a prenatal diagnosis with a 15q22.2-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component.

Uterine myxoid leiomyosarcoma - a rare malignant tumor: the role of complex morphopathological assay. Review and case presentation.

Malignant mixed mesodermal sarcomas (myxoid leiomyosarcomas - MLMS) are a rare form of uterine cancer developed from the smooth muscles of the uterus. It usually affects women in the postmenopausal period and has an aggressive character with an unfavorable evolution and prognosis. This paper presents a case where MLMS was postoperatively confirmed with the aid of the histopathological (HP) examination coupled with specific immunolabeling techniques. In addition, we reviewed modern literature to compare our results. Clinically, patients may present with a pelvic tumor, vaginal bleeding, or abdominal pressure. Imagistic investigations, such as pelvic ultrasonography (US), computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET)-CT may support the diagnosis. Nevertheless, solely the HP examination establishes it. Macroscopically, MLMS is soft and gelatinous, unlike the conventional rigid and spiral leiomyoma appearance. Furthermore, the infiltrative, irregular tumor margin is characteristic of MLMS. From a microscopic point of view, the following are present: tumor cell necrosis, nuclear pleomorphism, and variable mitotic activity. With classical Hematoxylin-Eosin (HE) staining, myometrium presents a leiomyomatous structure and multiple nodular formations with the aspect of malignant tumor proliferation, most likely mesenchymal. We used multiple special immunolabeling techniques. Thus, we observed the intense reactivity of the cells to the anti-vimentin antibody, which immunolabeled type III intermediate filament (IF) protein expressed in mesenchymal cells, thus demonstrating tumor mesenchymal affiliation. Smooth cell positivity for alpha-smooth muscle actin (α-SMA) demonstrates that the tumor is present in its whole myometrial structure. Tumor cells also underwent mutations involving the p53 tumor suppressor gene demonstrated by the number of tumoral cells in division immunolabeled with anti-Ki67 proliferation antibody. Tumor development was demonstrated by protein activation of cyclin-dependent kinase (CDK) and the presence of c-Kit-bound hematopoietic stem cells, immunolabeled with the anti-cluster of differentiation 117 (anti-CD117) antibodies. The anti-desmin antibody demonstrates, along with α-SMA, the involvement of myocytes in the tumoral process. The following microscopic characteristics laid the foundation for the diagnosis of MLMS: irregular myometrial invasion, rare mitosis on high-power fields (HPFs), cell pleomorphism, predominant myxoid component that gave a hypocellular appearance, the matrix rich in proteoglycans and glycosaminoglycans, especially hyaluronic acid.

Sonographic Evaluation of the Mechanism of Active Labor (SonoLabor Study): observational study protocol regarding the implementation of the sonopartogram.

INTRODUCTION: Over the last decades, a large body of literature has shown that intrapartum clinical digital pelvic estimations of fetal head position, station and progression in the pelvic canal are less accurate, compared with ultrasound (US) scan. Given the increasing evidence regarding the advantages of using US to evaluate the mechanism of labour, our study protocol aims to develop sonopartograms for fetal cephalic presentations. They will allow for a more objective evaluation of labour progression than the traditional labour monitoring, which could enable more rapid decisions regarding the mode of delivery. METHODS/ANALYSIS: This is a prospective observational study performed in three university hospitals, with an unselected population of women admitted in labour at term. Both clinical and US evaluations will be performed assessing fetal head position, descent and rotation. Specific US parameters regarding fetal head position, progression and rotation will be recorded to develop nomograms in a similar way that partograms were developed. The primary outcome is to develop nomograms for the longitudinal US assessment of labour in unselected nulliparous and multiparous women with fetal cephalic presentation. The secondary aims are to assess the sonopartogram differences in occiput anterior and posterior deliveries, to compare the labour trend from our research with the classic and other recent partogram models and to investigate the capability of the US labour monitoring to predict the outcome of spontaneous vaginal delivery. ETHICS AND DISSEMINATION: All protocols and the informed consent form comply with the Ministry of Health and the professional society ethics guidelines. University ethics committees approved the study protocol. The trial results will be published in peer-reviewed journals and at the conference presentations. The study will be implemented and reported in line with the Strengthening the Reporting of Observational Studies in Epidemiology statement. TRIAL REGISTRATION NUMBER: ClinicalTrials.gov Registry (NCT02326077).