First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies.

OBJECTIVE: To evaluate the potential of the first-trimester ultrasound (US) features for the detection of central nervous system (CNS) anomalies. Methods/Methodology: This is a prospective one-center three-year study. Unselected singleton pregnant women were examined using an extended first-trimester anomaly scan (FTAS) that included the CNS assessment: the calvaria shape, the septum (falx cerebri), the aspect of the lateral ventricles, the presence of the third ventricle and aqueduct of Sylvius (AS) and the posterior brain morphometry: the fourth ventricle, namely intracranial translucency (IT), brain stem/brain stem-occipital bone ratio (BS/BSOB) and cisterna magna (CM). The spine and underlying skin were also evaluated. The cases were also followed during the second and third trimesters of pregnancy and at delivery. FTAS efficiency to detect major CNS abnormalities was calculated. RESULTS: We detected 17 cases with CNS major abnormalities in a population of 1943 first-trimester (FT) fetuses, including spina bifida with myelomeningocele, exencephaly-anencephaly, holoprosencephaly, hydrocephaly, cephalocele and Dandy-Walker malformation. The CNS features in the abnormal group are presented. In the second trimester (ST), we further diagnosed cases of corpus callosum agenesis, cerebellar hypoplasia, vein of Galen aneurysm and fetal infection features (ventriculomegaly, intraventricular bands, intraventricular cyst and hyperechoic foci), all declared normal at the FTAS. During the third trimester (TT) scan we identified a massive fetal cerebral haemorrhage absent at previous investigations. We report a detection rate of 72.7% of fetal brain anomalies in the FT using the proposed CNS parameters. The sensitivity of the examination protocol was 72.7%, and the specificity was 100%. CONCLUSION: A detailed FT CNS scan is feasible and efficient. The majority of cases of major CNS abnormalities can be detected early in pregnancy. The visualization rates of the CNS parameters in the FT are great with short, if any, additional investigation time. FT cerebral disorders such as haemorrhage or infections were missed in the FT even when an extended evaluation protocol was used.

Endometrial polyps.

Endometrial polyps (EPs) are a frequent gynecological condition. EPs often arise in the common womanly patients and are appraised to be about 25%. Advancing age, hyperestrogenism, hypertension, and Tamoxifen use are acknowledged as ordinary risk elements for the development of EP. The etiopathogenesis of EP is not accurately elucidated, but certain considerations such as diabetes mellitus, hormonal factors or arterial hypertension are considered to perform a significant contribution. The diagnosis of EPs is essentially by imaging. Transvaginal ultrasound is the primary investigation in EPs. Hysteroscopic resection is now the "gold standard" to treat to treat this disease. Hysterectomy is the definitive treatment for EPs, but it requires a judicious indication and an adequate counseling of the patient. Currently, a certain histological pattern is found in different sequences in EPs. Even if the vast majority EPs are benign, they may reach hyperplastic, with malignant alteration. The purpose of this pictorial review is the integrated approach to this type of abnormal endometrial proliferation from the perspective of natural history, diagnosis, management, morphological aspects, risk of malignancy, recurrence and last but not least, clinical outcome.

Analysis of Risk Factors for the Development of Gestational Diabetes Mellitus in a Group of Romanian Patients.

Introduction: Gestational diabetes mellitus (GDM) is caused by numerous risk factors, the most common being old age, obesity, family history of diabetes mellitus, GDM, history of fetal macrosomia, history of polycystic ovary syndrome or treatment with particular drugs, multiple births, and certain races. The study proposed to analyze the risk factors causing GDM. Method: In the study, we included 97 pregnant women to whom there was an OGTT performed between weeks 24th and 28th of pregnancy, divided into two groups, with GDM and without GDM. The statistical analysis was performed with SPSS 26.0, the tests being statistically significant if p value < 0.05. Results: The favoring risk factors for the onset of GDM were analyzed, with statistically significant differences between the GDM group and the group without GDM related to the delivery age (32.39 ± 4.66 years old vs. 28.61 ± 4.71 years old), history of fetal macrosomia (13.7% vs. 0%), presence of GDM during previous pregnancies (7.8% vs. 0%), HBP before pregnancy (9.8% vs. 0%), gestational HBP (17.6% vs. 0%), glycemia value at first medical visit (79.37 ± 9.34 mg/dl vs. 71.39 ± 9.16 mg/dl), and weight gain during pregnancy (14.61 ± 4.47 kg vs. 12.48 ± 5.87 kg). Conclusions: Identifying the risk factors for the GDM onset has a special importance, implying an early implementation of interventional measures in order to avoid the onset of GDM and associated maternal and fetal complications.

Transient Polyhydramnios during Pregnancy Complicated with Gestational Diabetes Mellitus: Case Report and Systematic Review.

Polyhydramnios is an obstetrical condition defined as a pathological increase in the amniotic fluid and is associated with a high risk of maternal-fetal complications. Common causes of polyhydramnios include fetal anatomical and genetic abnormalities, gestational diabetes mellitus, and fetal viral infections. We present the case of a 30-year-old Caucasian woman with transient polyhydramnios associated with gestational diabetes mellitus and obstetric complications. The diagnosis was based on the ultrasound assessment of amniotic fluid volume during a common examination at 26 weeks. Two weeks prior, the patient had been diagnosed with gestational diabetes mellitus. After 4 days, the patient was examined, and the amniotic fluid index returned to normal values. At 38 weeks, the patient presented to the emergency room due to lack of fetal active movement. Ultrasound revealed polyhydramnios, the patient was admitted for severe fetal bradycardia, and fetal extraction through emergency cesarian section was performed. Six weeks after birth, the patient underwent an oral glucose tolerance test with normal values, confirming gestational diabetes mellitus. We performed a systematic review of the literature on polyhydramnios, from January 2016 to April 2022, to analyze all recent published cases and identify the most common etiological causes and important aspects related to maternal-fetal outcomes.

Analysis of Maternal and Neonatal Complications in a Group of Patients with Gestational Diabetes Mellitus.

Background and Objectives: Gestational diabetes mellitus (GDM) represents one of the most common complications during pregnancy, being associated with numerous maternal and neonatal complications. The study aimed to analyze maternal and neonatal complications associated with GDM. The risk factors of GDM and of the maternal and neonatal complications were studied in order to prevent their occurrence. Materials and Methods: The study included 97 women in the study, who underwent an oral glucose tolerance test (OGTT) between weeks 24-28 of pregnancy, consequently being divided into two groups: pregnant women with and without GDM. Statistical analysis was performed using the SPSS 26.0 software and MATLAB fitglm, the results being considered statistically significant if p < 0.05. Results: We observed statistically significant differences between the group of women with and without GDM, regarding gestational hypertension (17.6% vs. 0%), preeclampsia (13.72% vs. 0%), and cesarean delivery (96.1% vs. 78,3%). Data on the newborn and neonatal complications: statistically significant differences were recorded between the two groups (GDM vs. no GDM) regarding the average weight at birth (3339.41 ± 658.12 g vs. 3122.83 ± 173.67 g), presence of large for gestational age (21.6% vs. 0%), macrosomia (13.7% vs. 0%), excessive fetal growth (35.3% vs. 0%), respiratory distress (31.4% vs. 0%), hospitalization for at least 24 h in the Neonatal Intensive Care Unit (9.80% vs. 0%), and APGAR score <7 both 1 and 5 min following birth (7.8% vs. 0%). Additionally, the frequency of neonatal hypoglycemia and hyperbilirubinemia was higher among newborns from mothers with GDM. Conclusions: The screening and diagnosis of GDM is vital, and appropriate management is required for the prevention of maternal and neonatal complications associated with GDM. It is also important to know the risk factors for GDM and attempt to prevent their appearance.

Prenatal findings and pregnancy outcome in fetuses with right and double aortic arch. A 10-year experience at a tertiary center.

OBJECTIVE: Our objective was to evaluate the accuracy of the prenatal diagnosis and the relation between the type of right aortic arch (RAA) with other intra- or extracardiac (EC) and chromosomal anomalies. METHODS: A retrospective, observational study was conducted between 2011-2020 in a Romanian tertiary center. All RAA cases, including double aortic arch (DAA), were extracted from the databases and studied thoroughly. RESULTS: We detected 18 RAA cases: five (27.78%) type I (mirror image, "V" type), 11 (61.12%) type II ("U" type), and two (11.10%) DAA cases. Heart anomalies were associated in 38.89% (overall), 60% (type I), 36.37% (type II), and 0% (DAA) cases. Tetralogy of Fallot represented the most prevalent cardiac malformation (in 22.23% of cases). EC anomalies were present in 44.44% of fetuses (20% of type I, 54.55% of type II, and 50% of DAA cases). Genetic abnormalities were found in 41.17% of pregnancies, with 22q11.2 deletion in 23.53%. 55.55% of the cases had a good neonatal evolution and 44.45% of the pregnancies were terminated. An overall good outcome of pregnancy was noted in 40% of type I RAA, 63.64% of type II RAA, and 50% of DAA cases. All RAA cases examined in the first trimester were correctly diagnosed. CONCLUSIONS: RAA can be accurately diagnosed and classified by means of prenatal ultrasound since early pregnancy. A detailed anatomy scan and genetic testing, including 22q11 deletion, should be offered to all pregnancies when RAA is discovered. When isolated, RAA associates a good outcome, indifferently the anatomical type.

Apert syndrome - clinical case.

Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy. The diagnosis of Apert syndrome was placed on clinical signs, laboratory and genetic tests. The clinical outcome of the baby in the maternity was favorable, the therapeutic management being established by a multidisciplinary team. Immediate complications were due to the case of prematurity: respiratory distress syndrome and the characteristics of the syndrome: micrognathia and naso-facial dysmorphism, syndactyly, bilateral foot metatarsus adductus.

GPER and ERα expression in abnormal endometrial proliferations.

UNLABELLED: G-protein coupled estrogen receptor 1 (GPER), a particular extranuclear estrogen receptor (ER), seems not to be significantly involved in normal female phenotype development but especially associated with severe genital malignancies. This study investigated the GPER expression in different types of normal and abnormal proliferative endometrium, and the correlation with the presence of ERα. GPER was much highly expressed in cytoplasm (than onto cell membrane), contrary to ERα, which was almost exclusively located in the nucleus. Both ERs' densities were higher in columnar epithelial then in stromal cells, according with higher estrogen-sensitivity of epithelial cells. GPER and ERα density decreased as follows: complex endometrial hyperplasia (CEH) > simple endometrial hyperplasia (SHE) > normal proliferative endometrium (NPE) > atypical endometrial hyperplasia (AEH), ERα' density being constantly higher. In endometrial adenocarcinomas, both ERs were significant lower expressed, and widely varied, but GPER÷ERα ratio was significantly increased in high-grade lesions. CONCLUSIONS: The nuclear ERα is responsible for the genomic (the most important) mechanism of action of estrogens, involved in cell growth and multiplication. In normal and benign proliferations, ERα expression is increased as an evidence of its effects on cells with conserved architecture, in atypical and especially in malignant cells ERα's (and GPER's) density being much lower. Cytoplasmic GPER probably interfere with different tyrosine÷protein kinases signaling pathways, also involved in cell growth and proliferation. In benign endometrial lesions, GPER's presence is, at least partially, the result of an inductor effect of ERα on GPER gene transcription. In high-grade lesions, GPER÷ERα ratio was increased, demonstrating that GPER is involved per se in malignant endometrial proliferations.

Sonographic evaluation of fetal cerebral structures correlated with histological aspects.

Prenatal development of the human brain from undifferentiated neuroepithelium, crosses numerous steps towards primordial organization and subsequent cytoarchitectural layering, ascending and progressive from the lower cortical layers to the superior ones. Our study represents a systematic, comparative assessment of imaging studies and the histological evaluation of the prenatal development of the human brain. We evaluated 232 cases using 3D ultrasound. Histological study was performed on 17 cases aged between 8 and 32 weeks pregnancy and compared with imaging results. For the ultrasound study, we chose five anatomical landmarks: the choroid plexus, thalamus, cerebellum, hippocampus and island (Sylvian fissure). The histological study was performed on dissected brain specimens preserved in formaldehyde and was followed by immunohistochemical determination in order to complete the picture of the morphological evolution of the structures evaluated. We analyzed the accuracy of the description of marker elements (choroid plexus, thalamus, cerebellum, hippocampus and Sylvian fissure) in three-dimensional ultrasound evaluation. This showed a good correlation with the morphological evaluation as well as with the dimensional descriptions from the literature. Histological and immunohistochemical assessment helped complete the picture of the central nervous system development. Highlighting fetal cerebral structures by three-dimensional ultrasound, together with morphological examination helped us create a dynamic array of the central nervous system development.

Velamentous insertion of the umbilical cord vessels with vasa praevia--a case report.

Among the abnormal cord insertion pathology, velamentous cord insertion associated with rupture of vasa praevia is the most severe condition related to the outcome of the newborn. In velamentous cord insertion, the fetal vessels run freely through the fetal membranes without protection from Wharton's jelly, umbilical vessels diverging as they traverse the membranes. When the membranes are ruptured, complete tearing of fetal vessels through the torn membranes or partial rupture near the site of membrane rupture may occur. Velamentous insertion occurs in approximately 1% of singleton gestations, but is observed in as many as 15% of monochorionic twin gestations. The risk of perinatal death was doubled in pregnancies with velamentous cord insertion relative to normal cord insertion. This condition can be diagnosed by ultrasonography with a sensitivity of 67% and specificity of 100% in the second trimester. We report a case of a newborn who came from a velamentous cord insertion condition associated with rupture of vasa praevia after the spontaneously membranes rupture. After a difficult resuscitation and stabilization, the newborn survived with a good outcome after the follow-up.

Different patterns of heterogeneity in ovarian carcinoma.

Ovarian cancer is still the leading cause of death from malignant genital tract lesions. Ovarian carcinomas represent about 90% of cancers that arise in the ovaries and are commonly diagnosed around menopausal age. This study examines different aspects of the heterogeneity of ovarian carcinomas and included 50 cases, 10 cases for each subtype. Our data showed that tumor types have distinct morphological and phenotypic patterns: high- and low-grade serous carcinoma, endometrioid, clear cell and mucinous carcinoma. The different subtypes of ovarian carcinomas have different molecular, pathological and clinical characteristics, the histological diversity of epithelial ovarian carcinoma mirroring thus distinct entities not just one disease.