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The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.
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Anomalías Múltiples , Síndrome de DiGeorge , Cardiopatías Congénitas , Válvula Pulmonar , Recién Nacido , Embarazo , Femenino , Humanos , Síndrome de DiGeorge/complicaciones , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Aorta Torácica , Deleción Cromosómica , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/cirugía , Anomalías Múltiples/genéticaRESUMEN
An extensive review of the literature on the diagnostic and clinical accuracy of Kurjak's antenatal neurodevelopmental test (KANET) and the summarized results of the multi-center study involving 10 centers revealed that four-dimensional ultrasonography (4D US) has become a powerful tool and KANET a valuable test that empowers the clinicians worldwide to evaluate the fetal behavior in a systematic way and contribute to the detection of fetuses that might be at high risk for neurological impairments and in particular cerebral palsy (CP). After 10 years of clinical use, many published papers and multi-center studies, hundreds of trained physicians and numerous tests performed all over the world, KANET has proven its value and has been showing encouraging results so far. The aim of this paper is to show the results from the studies done so far and to reveal the clinical value of the KANET. We expect that data from the larger ongoing collaborative study, the short- and long-term postnatal follow-up will continue to improve our knowledge. Ultimately, we all strive to prevent the CP disorders, autism spectrum disorder (ASD) and other neurological impairments and we are convinced that KANET might be helpful in the realization of this important aim.
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Trastornos del Neurodesarrollo/diagnóstico por imagen , Pruebas Neuropsicológicas , Ultrasonografía Prenatal/métodos , Trastorno del Espectro Autista/diagnóstico por imagen , Parálisis Cerebral/diagnóstico por imagen , Femenino , Humanos , Estudios Multicéntricos como Asunto , EmbarazoRESUMEN
Assessment of fetal neurobehavior and detection of neurological impairment prenatally has been a great challenge in perinatal medicine. The evolution of four-dimensional (4D) ultrasound not only enabled a better visualization of fetal anatomy but also allowed the study of fetal behavior in real time. Kurjak Antenatal Neurodevelopmental Test (KANET) was developed for the assessment of fetal neurobehavior and the detection of neurological disorders, based on the assessment of the fetus by application of 4D ultrasound in the same way that a neonate is assessed postnatally. KANET is a method that has been applied for the past 10 years and studies show that it is a strong diagnostic tool and can be introduced into everyday clinical practice. We present all data from studies performed up to now on KANET.
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Movimiento Fetal , Ultrasonografía Prenatal/métodos , Femenino , Humanos , Imagenología Tridimensional , Estudios Multicéntricos como Asunto , EmbarazoRESUMEN
OBJECTIVE: To investigate if early pregnancy serum neopterin concentrations (EPSN) could predict spontaneous preterm birth (SPB). METHODS: EPSN was measured in 92 sera collected from 46 pregnant women with birth at term and 40 sera from 20 pregnant women with preterm birth. Two sera were collected for each case: in the first and early second trimester. RESULTS: EPSN concentrations correlate with gestational age (ρ=0.275, P=0.001), a correlation which was present in both groups: term and preterm birth. EPSN were higher in pregnancies with SPB compared with normal pregnancies (6.27±1.03 vs. 6.04±0.15, P=0.039). Patients with SPB showed a considerable increase of EPSN in the second trimester compared with patients with birth at term (7.30±1.53 vs. 6.16±0.23, P=0.043). A sharper increase was found in the group with SPB before 32 weeks of pregnancy (wp) (9.83±4.36 vs. 6.16±0.23, P=0.016). Pregnant women with an early second trimester serum neopterin value of above 8 nmol/L are associated with a risk of SPB before 32 wp (odds ratio=14.4, P=0.01) and of SPB before 34 wp (odds ratio=3.6, P=0.05), respectively. CONCLUSIONS: EPSN increases with the gestational age and predicts SPB in asymptomatic pregnant women.
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Neopterin/sangre , Embarazo/sangre , Nacimiento Prematuro/sangre , Biomarcadores/sangre , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Masculino , Pruebas de Detección del Suero Materno/métodos , Trabajo de Parto Prematuro/sangre , Valor Predictivo de las Pruebas , Segundo Trimestre del Embarazo/sangre , Factores de RiesgoRESUMEN
INTRODUCTION: Despite extensive research endometriosis is an area with important controversies. The European Society of Human Reproduction and Embriology issued in 2014 the last Guideline for endometriosis management including the statement that among 83 recommendations in 32 cases the best available evidence was only based on good clinical practice, further research being necessary to solve the lack of evidence in this pathology. The prevalence of endometriosis is unknown in Romania but in the medical literature estimates range from 2 to 10% of women of reproductive age, to 50% of infertile women, worldwide. Ovarian endometrioma prevalence goes up to 44%. A Cochrane review published in 2008 by Hart et al. concluded that excisional surgery of ovarian endometriosis results in a more favorable outcome compared to drainage and ablation with regard to recurrence, pain symptoms and subsequent spontaneous pregnancy in subfertilewomen- so the gold standard was set. But several authors revealed that ovarian tissue was inadvertently excised together with the cyst wall and endometrioma cystectomy is associated with a significant decrease in residual ovarian volume that may result in diminished ovarian reserve and function. The aim of our retrospective study was to evaluate whether or not ovarian parenchyma is inadvertently removed during laparoscopic surgery for endometrioma in a Romanian academic center. MATERIAL AND METHOD: We performed a retrospective study including women having undergone endometrioma excision, between January 2009 to June 2014 in the Department of Gynecology and Obstetrics of Targu-Mures University Hospital. Histological specimens of excised endometriomas were reviewed by different pathologists, who carried out serial microscopic sections according to pathology protocol for diagnosis of ovarian mass but not specific for the ovarian parenchyma removed with the cyst. RESULTS: Among 202 endometriomas, drainage and ablation was done in 60 cases and excisional surgery in the remaining 152 cases. Ovarian parenchyma was found in 40% of cases of endometrioma cystectomy. DISCUSSION: We observed that endometrioma cystectomy leads to ovarian tissue removal in an important number of cases. Furthermore, at the time of surgery the amount of ovarian parenchyma loss may increases proportionally with increases in cyst diameter and patient age. Considering that most of the woman in our series were infertile and because of data from series using plasma energy, a shift in the endometrioma treatment paradigm is likely to occur.
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Ablación por Catéter , Endometriosis/diagnóstico , Endometriosis/cirugía , Laparoscopía/efectos adversos , Quistes Ováricos/diagnóstico , Quistes Ováricos/cirugía , Adolescente , Adulto , Ablación por Catéter/métodos , Drenaje , Femenino , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Introduction Endometrial cancer (EC) is the most common gynecological malignancy in developed countries worldwide. Its incidence is rising, making it a significant public health concern. The relationship between lipids, hyperglycemia, and anthropometric risk factors in the development of EC has gained increasing attention in recent years. Understanding the role of dyslipidemia as a part of metabolic syndrome is crucial for developing effective prevention and treatment strategies for EC. We investigate the association between dyslipidemia, hyperglycemia, and EC. This study aims to elucidate the potential contribution of altered lipid profiles and chronic hyperglycemia to endometrial carcinogenesis. By analyzing patients with benign and malignant endometrial pathologies, we seek to identify novel biomarkers and unravel the underlying mechanisms by which these metabolic factors influence the risk of developing EC. Material and methods Our retrospective unicentric study included 390 patients (192 diagnosed with EC and 198 with endometrial hyperplasia), in which we compared the clinical and biochemical characteristics, with a particular focus on lipid profiles and glycemic indices sampled 24-48 hours before surgery. The data obtained from the medical records were analyzed using statistical methods to compare selected metabolic factors between EC and endometrial hyperplasia. Results Our analysis revealed statistically significant differences in metabolic health and lipid profiles between patients diagnosed with EC and those with endometrial hyperplasia. The EC group exhibits trends towards higher levels of triglycerides (TG) and glycated hemoglobin, alongside a higher BMI. Notably, high-density lipoprotein cholesterol levels were lower in the EC group. Conclusion Although the triglycerides-to-fasting blood glucose index and the triglycerides-to-high-density lipoprotein cholesterol ratio did not demonstrate sufficient discriminatory power for predicting myometrial invasion depth in this study, further exploration of cost-effective emerging biomarkers warrants investigation in future studies.
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Menopause, through attributable estrogen level decline and the corresponding increase in circulating androgens, significantly elevates a woman's risk for cardiometabolic diseases, including metabolic syndrome (MetS), type 2 diabetes, and cardiovascular disease. Metabolic syndrome itself is a cluster of interconnected risk factors, and among them, central obesity is a well-established factor for the development of endometrial cancer (EC), the most common gynecologic malignancy. This research investigates the impact of metabolic syndrome on survival rates among patients with endometrial cancer. The goal is to assess whether having metabolic syndrome or its individual components influences disease-free survival (DFS), overall survival (OS), cancer-specific survival, and recurrence rates. Understanding this link is crucial for determining risk levels and could help tailor treatment approaches for better long-term outcomes in endometrial cancer care.
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This is a retrospective study investigating biometric measurements using magnetic resonance imaging (MRI) examinations in congenital diaphragmatic hernia (CDH). CDH is one of the more common causes of pulmonary hypoplasia, with grave consequences for the fetus. Inclusion criteria were patients diagnosed with CDH as the only observed anomaly, who underwent MRI examination after the second-trimester morphology ultrasound. The patients came from three university hospitals in Bucharest, Romania. In total, 19 patients were included in the study after applying exclusion criteria. Comparing the observed values of the thoracic transverse diameter, the thoracic anterior-posterior diameter, the thoracic circumference, the thoracic area, and the thoracic volume with values from the literature, we observed a predictive alteration of these parameters, with most showing Gaussian distribution. We observed statistical significance for most of our correlations, except between the observed and expected thoracic anterior-posterior diameters and the observed and expected thoracic volume values. This is very helpful when complex studies that can calculate the pulmonary volume cannot be obtained, as in the case of movement artifacts, and allows the clinicians to better assess the severity of the disease. MRI follow-up in CDH cases is a necessity, as it offers the most accurate thoracic biometry.
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Background: Endometrial cancer is associated with changes in blood cell counts and with high levels of inflammatory markers, thus reflecting the tumor's impact on various biological processes and suggesting their potential as biomarkers for endometrial cancer diagnosis, prognosis, and treatment response. The neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio in peripheral blood sampled preoperatively from patients have been reported to be independently associated with the prognosis of different types of malignancies. Objectives: This study aimed to compare several blood markers-red blood cells, white blood cells, platelet parameters, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, monocyte-to-lymphocyte ratio, C-reactive protein, and fibrinogen-in patients with benign or malignant endometrial tumors. Material and methods: Our retrospective study included 670 patients (192 diagnosed with endometrial cancer and 478 with endometrial hyperplasia), and we compared the serological parameters discussed above with those sampled the day before surgery. Results: Analysis of complete blood count indices revealed no significant differences in red blood cell or total white blood cell parameters between the endometrial cancer group and the endometrial hyperplasia group. However, a distinct pattern emerged in the white blood cell differential. The endometrial cancer group showed a statistically significant decrease in lymphocyte count compared with the endometrial hyperplasia group. In contrast, the endometrial cancer group showed significantly higher mean platelet counts and increased mean platelet volume compared with controls. Furthermore, the endometrial cancer group demonstrated a marked inflammatory response, as evidenced by significantly elevated levels of C-reactive protein, fibrinogen, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio compared with the endometrial hyperplasia group. Conclusions: The current research revealed statistically significant differences in multiple serological biomarkers between the two groups. These findings support the initial hypothesis regarding the potential utility of these biomarkers in endometrial cancer diagnosis, prognosis, and treatment response, highlighting the existence of biomarkers affordable for analysis under any health system, regardless of the country's level of development.
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The surgical management of aortic coarctation in newborns needs to ensure postoperative evolution and long-term results as much as possible. Patients with a Gothic arch have a higher rate of postoperative hypertension, while newborns with a bovine arch have higher rates of restenosis and, thus, an additional risk of mortality. Late hypertension, even in anatomically successfully repaired patients, confers a high risk for cardiovascular events. This review of the literature focuses on the management of aortic coarctations associated with hypoplastic arch and particular arch anatomies, focusing on surgical techniques and their outcomes.
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Knowledge of differences in human papillomavirus (HPV)-type prevalence between high-grade cervical intraepithelial neoplasia (HG-CIN) and invasive cervical cancer (ICC) is crucial for understanding the natural history of HPV-infected cervical lesions and the potential impact of HPV vaccination on cervical cancer prevention. More than 6,000 women diagnosed with HG-CIN or ICC from 17 European countries were enrolled in two parallel cross-sectional studies (108288/108290). Centralised histopathology review and standardised HPV-DNA typing were applied to formalin-fixed paraffin-embedded cervical specimens dated 2001-2008. The pooled prevalence of individual HPV types was estimated using meta-analytic methods. A total of 3,103 women were diagnosed with HG-CIN and a total of 3,162 with ICC (median ages: 34 and 49 years, respectively), of which 98.5 and 91.8% were HPV-positive, respectively. The most common HPV types in women with HG-CIN were HPV16/33/31 (59.9/10.5/9.0%) and in ICC were HPV16/18/45 (63.3/15.2/5.3%). In squamous cell carcinomas, HPV16/18/33 were most frequent (66.2/10.8/5.3%), and in adenocarcinomas, HPV16/18/45 (54.2/40.4/8.3%). The prevalence of HPV16/18/45 was 1.1/3.5/2.5 times higher in ICC than in HG-CIN. The difference in age at diagnosis between CIN3 and squamous cervical cancer for HPV18 (9 years) was significantly less compared to HPV31/33/'other' (23/20/17 years), and for HPV45 (1 year) than HPV16/31/33/'other' (15/23/20/17 years). In Europe, HPV16 predominates in both HG-CIN and ICC, whereas HPV18/45 are associated with a low median age of ICC. HPV18/45 are more frequent in ICC than HG-CIN and associated with a high median age of HG-CIN, with a narrow age interval between HG-CIN and ICC detection. These findings support the need for primary prevention of HPV16/18/45-related cervical lesions.
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Alphapapillomavirus/clasificación , Infecciones por Papillomavirus/epidemiología , Infecciones por Papillomavirus/virología , Displasia del Cuello del Útero/virología , Neoplasias del Cuello Uterino/virología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Alphapapillomavirus/genética , Alphapapillomavirus/aislamiento & purificación , Cuello del Útero/patología , Cuello del Útero/virología , Estudios Transversales , ADN Viral/análisis , Europa (Continente)/epidemiología , Femenino , Humanos , Persona de Mediana Edad , Clasificación del Tumor , Neoplasias del Cuello Uterino/patología , Adulto Joven , Displasia del Cuello del Útero/patologíaRESUMEN
BACKGROUND: Human Papilloma Virus (HPV) represents the most prevalent genital infection in young women of reproductive age. OBJECTIVE: This systematic review aims to estimate the effect of HPV infection during pregnancy and assess the correlation between HPV and adverse pregnancy outcomes. MATERIALS AND METHODS: The search strategy has been developed based on the PICOS framework: Population (pregnant women infected with HPV), Intervention (HPV infection confirmed by molecular tests), Comparator (pregnant women without HPV infection), Outcomes (adverse pregnancy outcomes) and Study design (observational studies). We searched PubMed, Web of Science, and Scopus databases on 8 January 2022 by using the following keywords: "HPV", "prematurity", "preterm birth", "miscarriage", "premature rupture of membranes", "adverse pregnancy outcome", "low birth weight", "fetal growth restriction", "pregnancy-induced hypertensive disorders", "preeclampsia". Selection criteria were HPV infection confirmed within maximum 2 years before pregnancy with a molecular test and adverse pregnancy outcomes. (Results: Although numerous studies are conducted on this topic, data are still controversial regarding identifying maternal HPV infection as a risk factor for adverse pregnancy outcomes. More prospective large cohort studies are needed to prove a causative relationship.
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This is a retrospective study investigating the relationship between ultrasound and magnetic resonance imaging (MRI) examinations in congenital diaphragmatic hernia (CDH). CDH is a rare cause of pulmonary hypoplasia that increases the mortality and morbidity of patients. Inclusion criteria were: patients diagnosed with CDH who underwent MRI examination after the second-trimester morphology ultrasound confirmed the presence of CDH. The patients came from three university hospitals in Bucharest, Romania. A total of 22 patients were included in the study after applying the exclusion criteria. By analyzing the total lung volume (TLV) using MRI, and the lung to head ratio (LHR) calculated using MRI and ultrasound, we observed that LHR can severely underestimate the severity of the pulmonary hypoplasia, even showing values close to normal in some cases. This also proves to be statistically relevant if we eliminate certain extreme values. We found significant correlations between the LHR percentage and herniated organs, such as the left and right liver lobes and gallbladder. MRI also provided additional insights, indicating the presence of pericarditis or pleurisy. We wish to underline the necessity of MRI follow-up in all cases of CDH, as the accurate measurement of the TLV is important for future treatment and therapeutic strategy.
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Abdominal tumor masses are a very rare disease in the fetus. The authors present the first reported case of neonatal multicystic adenomatoid hamartoma of the pancreas associated with well-differentiated fetal epithelial subtype hepatoblastoma and reveal clinical, histologic, and imagistic aspects. Case presentation: A 36-week-old female newborn in whom a 25-week ultrasound showed a relatively homogeneous pancreatic echogenic mass (34 × 30 × 55 mm) with compression of the inferior vena cava and retrograde dilation. Postnatal CT showed a giant pancreatic tumor mass (113 × 70 × 60 mm), with areas enhancing contrast and cystic/necrotic areas and a hypodense, hypocaptive nodule of 8 × 6 mm located at segment IV of the liver; thrombosis of the subhepatic segment of the inferior vena cava and both renal veins. Histopathological and immunohistochemical studies confirmed the diagnosis of multicystic pancreatic adenomatoid hamartoma and well-differentiated fetal epithelial subtype hepatoblastoma. Conclusions: Pancreatic hamartoma can be difficult to diagnose (especially prenatal), with or without nonspecific symptoms. The synchronous presence of hepatoblastoma complicated the therapeutic conduct and prognosis of this case, with the diagnosis being confirmed histopathologically and immunohistochemically after liver biopsy.
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BACKGROUND: COVID-19 infection has dominated our lives and left its mark on it. The impact on fertility is major, and the long-term consequences may be disastrous. When we talk about oncofertility, we are talking about those patients worried about the delay in receiving medical services (possible cancelation of surgery, decreased availability of medical services, reorientation of medical resources) due to COVID-19. Finally, patients' worsening biological and reproductive statuses, associated with high levels of anxiety and depression, are closely related to social restrictions, economic impact, reorientation of medical resources, health policies, and fears of SARS-CoV-2 infection. AIM: We reviewed the current literature on fertility during the COVID-19 pandemic and its effect on cancer patients. Specifically, how cancer treatment can affect fertility, the options to maintain fertility potential, and the recovery options available after treatment are increasingly common concerns among cancer patients. METHODS: A systematic literature search was conducted using two main central databases (PubMed®/MEDLINE, and Web of Science) to identify relevant studies using keywords SARS-CoV-2, COVID-19, oncofertility, young cancer patient, cryopreservation, assisted reproductive techniques (ART), psychosocial, telemedicine. RESULTS: In the present study, 45 papers were included, centered on the six main topics related to COVID-19. CONCLUSIONS: Fertility preservation (FP) should not be discontinued, but instead practiced with adjustments to prevent SARS-CoV-2 transmission. The increased risk of SARS-CoV-2 infection in cancer patients requires screening for COVID-19 before FP procedures, among both patients and medical staff in FP clinics, to prevent infection that would rapidly worsen the condition and lead to severe complications.
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Umbilical cord abnormalities are not rare, and are often associated with structural or chromosomal abnormalities, fetal intrauterine growth restriction, and poor pregnancy outcomes; the latter can be a result of prematurity, placentation deficiency or, implicitly, an increased index of cesarean delivery due to the presence of fetal distress, higher admission to neonatal intensive care, and increased prenatal mortality rates. Even if the incidence of velamentous insertion, vasa praevia and umbilical knots is low, these pathologies increase the fetal morbidity and mortality prenatally and intrapartum. There is a vast heterogeneity among societies' guidelines regarding the umbilical cord examination. We consider the mandatory introduction of placental cord insertion examination in the first and second trimester to practice guidelines for fetal ultrasound scans. Moreover, during the mid-trimester scan, we recommend a transvaginal ultrasound and color Doppler assessment of the internal cervical os for low-lying placentas, marginal or velamentous cord insertion, and the evaluation of umbilical cord entanglement between the insertion sites whenever it is incidentally found. Based on the pathological description and the neonatal outcome reported for each entity, we conclude our descriptive review by establishing a new, clinically relevant classification of these umbilical cord anomalies.
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BACKGROUND: Hysterosalpingo-foam sonography (HyFoSy) has gained popularity in the last decades, as it represents a feasible, well-tolerated, and minimally invasive method of evaluation of tubal patency in cases of infertility. The purpose of this study was to communicate the technical tips and tricks based on our experience in performing HyFoSy, with the aim to improve the feasibility, to reduce the pain, and to evaluate pregnancy-obtaining rate after procedure. METHODS: Our observational study includes 672 patients from infertile couples who underwent HyFoSy for tubal patency evaluation. During HyFoSy, tubal pathway and patency as well as the level of pain were evaluated. A telephonic questionnaire was conducted in order to assess the pregnancy obtaining rate in the first 3 months and more than 3 months after the procedure. RESULTS: The median age in our group was 33.5 years. Most of our patients (61.16%) underwent HyFoSy in the 8-10 days of the menstrual cycle. Tubal patency was present bilaterally in 86% cases, unilaterally in 11% of patients, and was absent in 3% of cases; 75% of patients related absent or tolerable pain, 17% described HyFoSy as a painful procedure, and 8% experienced extreme pain. After HyFoSy, pregnancy was naturally obtained in 10.86% of cases within the first 3 months after HyFoSy. CONCLUSIONS: HyFoSy represents a useful, easy to use, and painless tool in female infertility evaluation and should be considered as a complementary method of the transvaginal ultrasonography, completing the genital tract imaging with information about the hidden part of the standard examination: tubal patency. HyFoSy provides information about patency, caliber regularity, pathway, and occlusion location of the fallopian tubes; therefore, it should be introduced along with transvaginal ultrasound as a first-line infertility exploration method.
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Aims: We searched for correlations between ultrasound findings in pregnancies with congenital diaphragmatic hernia (CDH) and magnetic resonance imaging (MRI) follow-up examinations; MRI was used to confirm and complete the investigation in these difficult cases. In some of them, new elements that ultrasound was not able to fully describe have been also brought. We were especially interested when MRI was superior to ultrasound. Material and methods: This is a retrospective study of 12 pregnancies with congenital diaphragmatic hernia that were diagnosed in two major university clinics of Bucharest, Romania. Ultrasounds and MRI examinations were performed to evaluate pulmonary hypoplasia and correctly asses the herniated organs. We used standard international protocols and guidelines for calculating different parameters. All patients signed an informed consent before being enrolled in the study. Results: We described the herniated organs, dimensions of the hernia and the remaining lung capacity, so that we could correctly evaluate the prognosis. We have also used the lung to head ratio (LHR) in an attempt to better determine the degree of lung hypoplasia. Conclusion: High quality ultrasound followed by an MRI examination helped correctly assess the prognostic, treatment possibilities and total affected lung volume. It not only confirmed the diagnosis, but also offered new information that ultrasound was not able to provide.
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Cardiac and cardiovascular malformations are of real interest in terms of definition, epidemiology, and means of early diagnosis by imaging. Although ultrasound examination reaches exceptional performance nowadays, unusual pathologies are still exposed to the risk of either incorrect acquired image or misinterpretation by the specialist in a routine scan. Herein, we present a case of a 20-week-old fetus (from an apparently low-risk pregnancy) with complex cardiac and vascular abnormalities, including an arteriovenous malformation along with ventricular septal defect, ductal coarctation of the aorta, aneurysm of a brachiocephalic vein, and dilation of the entire neck and upper mediastinum venous system, and the limitations that were encountered in the process of diagnosis and management of the case.
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Neural tube defects (NTDs) occur during embryogenesis, specifically during the fifth or sixth week of gestation, and are described as aberrant neural tube closing. The defect may alter the normal development of the vertebrae, spinal cord, cranium, or brain. The present study describes the case of a 41-year-old pregnant woman with fetal sacral meningocele, no associated pathologies, no family history of neural tube defects, a pregnancy under folate supplementation with the aim of highlighting the importance of ultrasound in diagnosing neural tube defects. The ultrasonographic diagnosis was not clear from the beginning. In our case, the differential diagnosis of meningocele was made with the cystic compound of a sacrococcygeal teratoma, which represents one of the most common congenital tumors in newborns. The particularity of this case was that a neural tube defect occurred despite the prophylactic administration of folic acid during pregnancy, which represents a well-documented protection against neural tube defects in fetuses.