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The advantages of earlier diagnosis give the family more time to adjust to the fetal cardiac and related extracardiac diagnoses and to make informed pregnancy decisions. If a severe fetal CHD is detected in the first trimester and pregnancy termination is selected, the intervention may have a lower risk for the mother's physical and mental health. Training medical staff is a crucial part of implementing obstetric ultrasonography services well, since effective patient care depends on their ability to use the equipment skillfully and interpret results properly. In many low-and middle-income nations, there is a scarcity of healthcare professionals trained to offer ultrasound services and one of the reasons for this issue is the lack of available lectures, simulations and instruments to explain how ultrasound sections are acquired. We propose an alternative method of visualizing the ultrasound planes of interest using three-dimensional volumes of fetal hearts reconstructed from seriate histological slices. This method may aid trainees in understanding echocardiography. [ABSTRACT FROM AUTHOR]

Due to rapid technology advancement and increasing diagnostic expertise, fetal medicine is rapidly improving. Prenatal diagnostic advancements made it possible to identify structural abnormalities in fetuses as early as the first trimester of pregnancy. However, to validate the echocardiographic diagnosis that led to the pregnancy termination, the termination of pregnancy owing to severe fetal deformities should be audited in accordance with a correct anatomic diagnosis. Following the PRISMA declaration, a systematic literature search was done to find articles on post-mortem first trimester human fetal heart evaluation. Thirteen suitable studies were found using the search method. It is theoretically possible to examine the human fetal heart after death in early pregnancy however these methods are not widely available due the costs associated with the procedure and the equipment, the effects of tissue coloration and distortion brought on by the fixation and contrasting processes (for micro-CT), the current requirement for a skilled operator to acquire, reconstruct, and process the images, and data storage requirements greater than those of conventional clinical scans. [ABSTRACT FROM AUTHOR]

Right aortic arch (RAA) is an abnormal embryologic development of the aorta characterized by its descendance on the right side of the trachea. This anomaly is accompanied often by other intracardiac and extracardiac anomalies and it is also known for potential association with genetic aberrations, most common being 22q11.2 deletion. The aim of the study was to evaluate the incidence of chromosomal anomalies and in particular 22q11.2 deletion in RAA. Moreover, we assessed the prognosis of fetuses with isolated RAA. Our second objective was to evaluate the prevalence of hypoplastic or absent thymus in RAA fetuses diagnosed with 22q11.2 deletion. We conducted a retrospective study of all fetuses with RAA over a period of 10 years diagnosed prenatally in a tertiary referral center in Romania. A detailed ultrasound was obtained in each case. We extracted the cases that were investigated genetically and selected the cases positive for 22q11.2 deletion. These fetuses were followed up until pregnancy termination or birth to confirm the ultrasound findings. Deletion 22q11.2 was present in 23.52% (4/17) cases. The incidence was particularly high when the fetuses presented a small thymus. In conclusion, we believe that all cases of RAA, including when isolated, should be referred for genetic testing and especially 22q11.2 deletion exclusion. Also, we suggest considering hypoplastic thymus to be a soft marker for this deletion. [ABSTRACT FROM AUTHOR]

Turner syndrome (TS) is a genetic disease with a female phenotype and the most frequent 45,XO karyotype. Prenatal diagnosis is based on ultrasound examination, which can suggest structural abnormalities and genetic assessment. Fifty percent of the cases are detected by ultrasound examination with major anomalies. Case presentation. A 29-year-old patient, with a caesarean section delivery four years before, referred for routine screening of a first-trimester pregnancy. The ultrasound exam revealed a 12-weeks of gestation singleton pregnancy, with increased nuchal translucency (6 mm), left heart hypoplasia, septal interventricular defect, mitral regurgitation and mitral valve dysplasia, with the reversed aortic flow. After counseling, the couple decided the termination of pregnancy due to its unfavorable prognosis. The suspected ultrasound anomalies were confirmed by autopsy. Also, a new computed fetal heart reconstruction technique was used for confirming fetal heart defects, as for this gestational age is barely impossible to correctly assess the anatomical structures. Turner syndrome (45,XO) karyotype was confirmed. Conclusions. The first-trimester structural ultrasound screening is important, as severe structural anomalies can be identified. With an early diagnosis and proper counseling, the couple may decide the termination of pregnancy. The fetal autopsy evaluation confirms the data obtained through the ultrasound examination, and with a proper technique, the microscopic evaluation, with special software reconstruction, can confirm fetal heart disorders, in a proper manner. [ABSTRACT FROM AUTHOR]

Objective. The main objective of our study was to demonstrate the potential of the first-trimester anomaly scan to identify components of the portal venous system (PVS), and to describe the potential of microscopic evaluation of the PVS in the FT. Materials and method. We evaluate the appearance of PVS in 200 scan examinations performed in fetuses between 12 and 13.6 gestational weeks (GW). The scans were performed in half of the cases by two operators who had extensive experience in obstetric ultrasound (Group I) and in the other half of the cases by two sonographers with less experience (Group two). The examinations were performed via transabdominal and, in selected cases, via transvaginal approaches. We performed macroscopic and microscopic examination of the liver in one case of interrupted pregnancy. Results. Group I successfully assessed all PVS features by transabdominal approach in 27% of the cases. The assessment rate was lower for Group II (14%). The transvaginal approach or reschedule showed a better rate of detection for both groups (88% in Group I and 72% in Group II). Unfavorable fetal position, BMI greater than 24, abdominal scar, retroverted uterus, fibroids and combinations of the above were reasons for the reschedule or using the transvaginal approach. Following reevaluations, the rate of detection of the L-shaped UV confluence increased from 91% to 98% in Group I, and from 79% to 95% in Group II, on transabdominal approach. The visualization of a normal L-shaped UV confluence, that excludes major PVS abnormalities, is achievable in approximately 80% of cases, regardless the examiners experience. The microscopic examination confirmed the normal aspect of portal venous system. Conclusions. Early fetal PVS assessment is feasible. The experience of the sonographer, uterus anomalies or the Body Mass Index (BMI) may be factors that affect the rate of detection. Combining the abdominal and vaginal approach or rescanning, a higher rate can be achieved. The first-trimester pathology can be performed only microscopically. [ABSTRACT FROM AUTHOR]

Spontaneous preterm birth (SPTB), defined as delivery before 37 weeks of gestation, remains a significant obstetric dilemma even after decades of research in this field and the leading cause of neonatal mortality and morbidity in developed countries. A short cervix is an important predictor of SPTB and several treatment strategies have been proposed. The cervical pessary has been tested as a possible intervention to prevent SPTB in singleton pregnancies. There is still conflicting evidence regarding the efficacy of it. The prevailing thought is that the pessary works similar to a mechanical device that keeps the cervix closed during pregnancy and also alleviates the amount of pressure on the cervix by shifting the angle of the cervix. The purpose of this case series is to provide preliminary proof on the utility of cervical pessary application in women with short cervix, especially during the COVID-19 pandemic. Between March 2020 and March 2022, 42 pregnant women were followed-up with Arabin pessaries in our clinic. Cervical pessary proved to be an inexpensive and less invasive option to cervical cerclage in pregnant women with shortened cervix. Pessary application and removal did not require anesthesia. Almost all the pessary users complained of increased vaginal discharge due to foreign body irritation after the use of a cervical pessary. No vaginal infections were demonstrated. Forty patients delivered after 34 weeks of gestation and only two patients delivered before 34 weeks of gestation. During the pandemic, the pessary use, instead of cervical suturing, has decreased hospital stays and reduced healthcare costs and proved to be a feasible alternative for the prevention of preterm delivery. Regarding the compliance and the tolerance, most women reported having a positive experience and that they were motivated to continue the treatment when they were continuously followed-up by an experienced clinic. This limited case series underlines that cervical pessary can be a trustworthy option for the prolongation of pregnancy and may represent special importance to health services in low-resource countries. [ABSTRACT FROM AUTHOR]

Mixed malignant mesoderm sarcomas (MLMS) are a rare subtype of malignant tumors with a myometrial origin. Usually, this pathology is diagnosed in menopausal women and has a fast evolution, with an unfavorable prognosis. This study analyzed data from the literature, which were subsequently correlated with a case of MLMS confirmed by classical histopathological examination and immunohistochemistry. It was performed total hysterectomy with bilateral adnexectomy. The clinical manifestations found in MLMS are the presence of a pelvic-abdominal tumor mass, accompanied by abdominal pressure, discomfort and vaginal bleeding. Imaging investigations such as pelvic ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI) may suggest the diagnosis, but only the histopathological exam confirms it. From a macroscopic point of view, MLMS has a soft, gelatinous structure, compared to leiomyofibromas, with a hard and spiral structure. Another feature of MLMS is the infiltrative, irregular-looking tumor margin. The microscopic aspects of this malignant tumor are nuclear pleomorphism, necrosis of tumor cells, the presence of myxoid matrix, and variable mitotic activity. Due to the classic hematoxylin-eosin staining, the uterine smooth muscle has a leiomyomatosis structure, with the presence of multiple nodular formations suggestive for malignant tumor proliferation, probably of mesenchymal origin. We have shown that tumor cellularity is highly reactive to the anti-Vimentin antibody, an immunolabeled type III intermediate filament (IF) protein found in mesenchymal cells through special immunohistochemical techniques, demonstrating the mesenchymal origin of the tumor. The positivity of myocytes in the immunoreaction with the anti-alpha-actin antibody of smooth muscle (αSMA) shows that the tumor belongs to the myometrial structure. Tumor-transformed cells were genetically altered and mutated in the p53 tumor suppressor gene, thus escaping standard tissue control, aspects identified by immunolabeling with the anti-Ki67 antibody, which revealed cells in division. Tumor growth and development were supported by protein activation of cyclin-dependent kinase (CDK) and the presence of immunolabeled hematopoietic stem cells using the anti-cluster antibody of differentiation 117 (c-kit). The use of an anti-Desmin antibody in combination with anti- αSMA demonstrates the involvement of smooth muscle cells in tumor growth and development. The following microscopic features established the basis for the diagnosis of MLMS: irregular myometrial invasion the myxoid appearance that highlights rare cells dividing on sea fields. The following microscopic features laid the foundations for MLMS diagnosis: irregular myometrial invasion, rare mitosis on high power field (HPF: an average of 2.6 cells/×400 (±0.96 cells/×400) due to the presence of abundant myxoid matrix, rich in proteoglycans and glycosaminoglycans, especially hyaluronic acid, which offers a hypocellular appearance, but also through cell pleiomorphism. [ABSTRACT FROM AUTHOR]

Introduction. The anomalies of the fetal venous system are anomalies with a variable prognosis, which is mostly based on the presence of associated malformations. Close follow-up of fetuses with different cardiac or extracardiac malformations may result in detection of abnormal venous systems. In this paper we present the experience of our center. We also intend to review the recent data from the specialized literature. Methodology. We present the report of two new cases of anomalies of the fetal venous system diagnosed in our center and the associated malformations. Results and conclusions. Abnormal venous system is associated with a high incidence of fetal anomalies and adverse outcomes, including associated malformations, chromosomal aberrations. These results are in accordance with the results of the specialized studies. [ABSTRACT FROM AUTHOR]

Introducere. Exploarea ecografică a sistemului venos fetal a dus la expunerea unui spectru larg de malformaţii care îl afectează. Aceste anomalii ale sistemului venos, în special ale venelor cave, pot fiasociate cu anomalii ale inimii, tractului intestinal şi anomalii de simetrie a corpului, aşa-numitul izomerism atrial stâng şi drept. În această lucrare prezentăm experienţa centrului nostru. De asemenea, ne propunem să trecem în revistă datele recente din literatura de specialitate. Materiale şi metodă. Utilizând baza de date online, am identificat studii ce au raportat fiziopatologia acestui sistem, precum şi aspectul ecografic al diferitelor sale anomalii. De asemenea, vom prezenta raportul a două cazuri de anomalii ale sistemului venos fetal diagnosticate în centrul nostru. Rezultate şi concluzii. Au fost raportate puţine cazuri, cu aspecte variate ale malformaţiilor. Prognosticul celor două cazuri ale centrului nostru a fost diferit. Este vorba despre un caz cu malformaţie a sistemului venos izolată, care a avut un prognostic bun, şi despre un caz în care au fost asociate şi alte anomalii, prognosticul fiind unul nefavorabil. Aceste rezultate sunt în concordanţă cu rezultatele din studiile de specialitate. [ABSTRACT FROM AUTHOR]

Objective. Prenatal testing holds a central role in pregnancy evaluation and monitoring. It unites different investigation methods to determine the best possible outcome and management of a case. This paper emphasises the importance of prenatal testing by presenting a case with multiple congenital anomalies. Method. We report a case diagnosed antenatally in the Imagistic Department of Obstetrics and Gynecology, ENDOGYN AM, and confirmed together with the University Prenatal Diagnosis Unit team. We used an extended fetal morphologic protocol. We correlated the antenatal data with the anatomopathological examination. Genetic tests were performed due to the possibility of genetic abnormalities. Results. The outcome of our case was unfavourable, due to the presence of multiple anomalies at the detailed morphological assessment. No genetic abnormality was found. The anatomopathological examination confirmed the antenatal fetal findings. Conclusions. Prenatal testing represents the most important pylon in pregnancy evaluation. Multiple tests should be performed for a correct case management. [ABSTRACT FROM AUTHOR]

Obiectiv. Ductul venos este un canal vascular care face conexiunea dintre porţiunea intraabdominală a venei ombilicale cu vena cavă inferioară. Anomaliile ductului venos sunt rare şi au un prognostic variabil, în funcţie de prezenţa altor malformaţii. Metodologie. Lucrarea de faţă reprezintă un review al literaturii de specialitate privind incidenţa acestor anomalii şi îşi propune evaluarea prognosticului sarcinii atât în perioada prenatală, cât şi postnatal. Sunt menţionate cazuri din literatură şi sunt prezentate cazuri diagnosticate în Unitatea Universitară de Diagnostic Prenatal. Concluzii. Anomaliile ductului venos, deşi rare, trebuie investigate folosind un protocol extins de morfologie fetală pentru punerea în evidenţă a anomaliilor asociate. Prognosticul este nefavorabil atunci când sunt asociate mai multe malformaţii fetale. Investigaţiile genetice sunt necesare pentru stabilirea unui management corect, aceste anomalii fiind deseori incluse în anumite sindroame genetice (trisomia 21, trisomia 18, monosomia X). [ABSTRACT FROM AUTHOR]

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Introduction. Increased nuchal translucency (NT) at a gestational age of 11-14 weeks frequently represents the fenotipical expression of some chromosomal anomalies. Moreover, many of these syndromes associate morphological anomalies, especially in the context of an increased NT. First-trimester ultrasound scan remains the basis of prenatal care, and one of the objectives is represented by the major fetal anomalies detection. The purpose of this study is to evaluate the significance of an increased NT in fetuses with normal first-trimester morphology. Materials and method. We did a retrospective study in the Prenatal Diagnosis Center of the Emergency County Hospital of Craiova and at MEDGIN Craiova. In this study we included cases which presented for a first-trimester ultrasound genetic screening, where a detailed morphological examination protocol was followed. The patients who presented fetuses with a NT of over 3 mm underwent an invasive maneuver - chorionic villus sampling (CVS) or amniocentesis. The genetic counseling was performed prior to the maneuver. Results. Over the course of two years, 527 patients were examined, and 5% of them presented a NT of more than 3 mm. In more than 50% of these cases, an increased NT represented an isolated ultrasound marker, without any other associations, and the genetic test results were normal. In cases where increased NT and structural anomalies were present, major genetic and morphological modifications were diagnosed, with an absolute indication for the therapeutic termination of the pregnancy. Conclusions. Increased NT without any other morphological anomalies in the first-trimester ultrasound scan is associated in the majority of the cases with normal fetus karyotype and normal fetus prognosis on short and medium term (birth). However, a detailed morphological evaluation at the end of the first trimester is required in these situations, performed in a specialised center. [ABSTRACT FROM AUTHOR]