Diagnóstico prenatal de un nefroma mesoblástico congénito

Congenital mesoblastic nephroma is the most common kidney tumor in neonates. We report a case of renal mass detected prenatally in a routine ultrasonographic examination, associated with polyhydramnios. Ultrasonographic features suggested mesoblastic nephroma. The diagnosis was confirmed by histopathological study.     

Prenatal diagnosis of fetal renal mesoblastic nephroma

A rare case of fetal renal mesoblastic nephroma diagnosed prenatally by ultrasonography is presented.     

A rare case of non-immune hydrops fetalis: double-chambered right ventricle. A case report

A double-chambered right ventricle was diagnosed prenatally by ultrasound examination in a case of fetal hydrops and polyhydramnios. Delivery was induced at the 28th week. 2D echocardiography of the newborn confirmed the intrauterine diagnosis. To our knowledge, this is the first reported case of prenatally diagnosed divided right ventricle, causing hydrops.     

Prenatal diagnosis of a congenital mesoblastic nephroma. A case report

Fetal urinary tract malformations are diagnosed frequently with ultrasonography. There are many published papers on in utero detection of fetal cystic abnormalities. In this case the prenatal diagnosis of a solid kidney mass was made, and histopathologic examination after surgical resection revealed congenital mesoblastic nephroma.     

Giant immature intracranial teratoma with antenatal cranial perforation

Fetal brain tumors are very rare, and fetal survival is generally poor. Here we present a congenital intracranial immature teratoma, which was prenatally diagnosed. Prenatal ultrasonography and fetal magnetic resonance imaging detected the presence of a massive, heterogeneous intracranial tumor at 26 weeks gestational age. An intracranial tumor lacking normal intracranial structures was detected. The biparietal diameter was 13.1 cm, which is abnormally long. Fetal death occurred at 27 weeks of gestation due to cranial perforation. Postmortem histologic examination revealed the presence of an immature teratoma. Ultrasonography and magnetic resonance imaging are helpful in the prenatal diagnosis and evaluation of intracranial tumors. In conclusion, some cases of giant immature congenital teratoma develop antenatal cranial perforation.     

Prenatal diagnosis of abdominal lymphatic malformations

Abdominal lymphatic malformations (LM) are rare congenital malformations of the lymphatic system, representing only 2% of all LM in newborns. They may arise from intra-abdominal solid organs (such as the liver, pancreas, kidneys, spleen, adrenal glands, and gastrointestinal tract), mesentery, omentum, and retroperitoneum. Mesenteric LM are the most commonly seen, with retroperitoneal LM being the second most common. Fetal abdominal LM could be associated with karyotypic or other abnormalities, including skin edema, hydrops fetalis, and polyhydramnios, and prenatal diagnosis and perinatal counseling for these LM are important. Prenatal ultrasound (US) and magnetic resonance imaging (MRI) have led to an increased diagnosis of abdominal LM and improved monitoring and intervention postnatally. This article provides an overview of fetal abdominal LM, including the prenatal diagnoses, differential diagnoses, comprehensive illustrations of the imaging findings, treatments, and fetal outcomes.     

Prenatal diagnosis of hemifacial microsomia by magnetic resonance imaging

We present a case of hemifacial microsomia, first detected by prenatal sonography and confirmed by ultrafast magnetic resonance (MR) imaging. A 26-year-old patient was referred to our hospital at 20 weeks of gestation because of unilateral right-sided ventriculomegaly and of a possible ventriculoseptal defect (VSD). Our sonographic examination suggested a right orbital hypoplasia and a hemiatrophy of the nose. The ultrafast T2-weighted single-shot fast-spin echo MR imaging, demonstrated a right ear hypoplasia (microtia), a right orbital hypoplasia, and a right renal hypoplasia. Epibulbar dermoid or conjunctival lipodermoid were not recognized. The fetus was prenatally diagnosed as hemifacial microsomia. Termination of pregnancy was performed at 21 weeks gestation, and a male baby weighing 342g was stillborn. The baby showed facial asymmetry, including hemiatrophy of the right nose, and right ear hypoplasia. Autopsy revealed a 2mm area of VSD, agenesis of the right kidney and ureter, pancreatic and renal aberration into right adrenal gland, thymus hypoplasia and an unfixed ascending colon without intestinal malrotation. To the best of our knowledge, this is the first report of prenatal diagnosis for hemifacial microsomia using fetal MR imaging. In our case, fetal MR imaging has evolved into a powerful diagnostic tool, for the accurate prenatal diagnosis.     

Prenatal diagnosis of congenital epulis by three-dimensional ultrasound and magnetic resonance imaging

Congenital epulis is a benign intraoral tumor that has rarely been diagnosed prenatally. We report a fetus with congenital epulis diagnosed by three-dimensional (3-D) ultrasound and fetal magnetic resonance imaging (MRI) at 35 weeks' gestation. We show an image of congenital epulis using a new ultrasound technique, the 3-D multislice view, which shows images similar to CT or MRI. This is a short case report of congenital epulis diagnosed prenatally by 3-D ultrasound using multislice view and MRI.     

Prenatal diagnosis of laryngeal atresia

Prenatal diagnosis of congenital atresia of the larynx is difficult but is possible by the findings of increased lung echogenicity and size coexisting with fetal ascites in ultrasonography. Sonographic findings may not always be typical. We report on a case of congenital laryngeal atresia diagnosed prenatally by the findings of fetal hydrops and hyperechogenic lungs. Our case presented with oligohydramnios. We also review syndromes that demonstrate laryngeal anomalies.     

Giant fetal hepatic hemangioma. Case report and literature review

The purpose of this case report is to demonstrate the importance of prenatal imaging for treatment management of fetal giant hepatic hemangiomas. Prenatal ultrasound revealed an abdominal mass with several cystic areas and punctate calcifications in a fetus at 29 weeks' gestation. Doppler scans confirmed the highly vascular nature of the mass. In this case, ultrasound diagnosed the mass was of hepatic origin, while magnetic resonance imaging at 32 weeks' gestation was more equivocal with respect to the anatomy source of the lesion. Imminent hydrops caused by a rapidly enlarged liver tumor was sonographically demonstrated at 34 weeks' gestation. An elective C-section and immediate tumor resection was performed. At the age of 20 months the infant is thriving. This case supports the notion that the survival rates for giant hepatic hemangiomas improve when fetal hydrops is averted and specific pre- and postnatal treatment is applied based on correct prenatal imaging diagnostics.     

Prognostic factors associated with congenital cystic adenomatoid malformation of the lung

This study presents 18 cases of prenatally diagnosed congenital cystic adenomatoid malformation (CCAM) to identify potential factors that could predict prognosis. Comparisons of prenatal parameters were made between fetuses that survived and those that died perinatally. It was found that microcystic lesion, bilateral lung involvement and hydrops were each highly correlated with poor prognosis, while neither polyhydramnios nor mediastinal shift was significantly associated with had outcome. Fetal interventions were indicated only in two of the surviving cases: a thoracocentesis and a cysto-amniotic shunt. A therapeutic amniocentesis was performed in one case of polyhydramnios. The diagnosis of CCAM was histologically confirmed in all cases by necropsy or by postnatal lobectomy.     

Prenatal diagnosis of Simpson–Golabi–Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold

ObjectiveSimpson–Golabi–Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by overgrowth and multiple anomalies. Most clinical diagnoses of SGBS1 are made postnatally. We present the case of a pregnant woman in whom the fetus presented with a thick nuchal fold 5.6 mm at 15 weeks of gestation, leading to the prenatal diagnosis of SGBS1 with Xq26.2 (133408101–134221889) deletion.Case reportWe report the case of a 34-year-old pregnant woman with the initial presentation of fetal thick nuchal fold 5.6 mm at 15 weeks of gestation. Amniocentesis of the fetal karyotype revealed a normal 46, XY, and single nucleotide polymorphism array showed Xq26.2 (133408101–134221889) deletion. Prenatal ultrasound at 21 weeks of gestation revealed a thick nuchal fold, hepatomegaly, nephromegaly, congenital diaphragmatic hernia, hypospadias, and polyhydramnios. Fetal magnetic resonance imaging revealed hepatomegaly, nephromegaly, congenital diaphragmatic hernia, and right lung hypoplasia. The woman had her pregnancy terminated at 24 weeks of gestation. The proband had a general appearance of low-set ears, hypertelorism, a large tongue, and hypospadias and some unique findings on autopsy, including hepatomegaly, right hiatal hernia, liver extensive extramedullary hematopoiesis, kidney marked congestion, and focal hemorrhage.DiscussionThe main prenatal ultrasound findings that alert clinical doctors about the possible diagnosis of SGBS1 included macrosomia, polyhydramnios, organomegaly, renal malformations, congenital diaphragmatic hernia, and cardiac anomalies. Our case underscores the importance of fetal karyotyping combined with single nucleotide polymorphism array when a thick nuchal fold is found. Genetic counseling is essential in SGBS1, and prenatal testing or preimplantation testing for subsequent pregnancies is necessary to identify possible pathogenic variants.     

Combined prenatal ultrasound and magnetic resonance imaging in an extensive congenital fibrosarcoma: a case report and review of the literature

OBJECTIVE: Tumors of congenital origin differ in their symptoms and signs, predominant location and prognosis from those occurred later in childhood. To determine whether the prognosis of congenital (infantile) fibrosarcoma in the retroperitoneum, an extremely rare form of soft tissue malignant tumor, can be assessed prenatally. METHODS: We describe a case of this condition diagnosed in utero, including the assessment of the tumor behavior by ultrasound and magnetic resonance imaging. We also review the English language literature in Medline over the past 10 years and describe the management options available in such cases. RESULTS: Our case had precise prenatal findings revealed unfavorable conditions such as bulky tumor mass, spinal metastasis and pulmonary hypoplasia. CONCLUSION: Fetal imaging studies could accurately identify the invasion of tumor. The outcome is usually poor, especially for those fetuses affected by an axial location of the tumor.     

Prenatal diagnosis and management of mainstem bronchial atresia

The prenatal diagnosis, natural history and management of mainstem bronchial atresia have not been described previously. We report two cases of prenatally diagnosed proximal bronchial atresia. The first patient presented at 18 weeks with sonographic and MRI findings consistent with bronchial atresia with fetal hydrops. The mother developed the mirror syndrome and labor was induced. A non-viable fetus was delivered at 25 weeks. The second patient presented at 16 weeks gestation with evidence of an intrathoracic mass that was subsequently prenatally diagnosed as a right mainstem bronchial atresia. The right lung increased rapidly in size and was associated with the onset of fetal hydrops. At 24 weeks, fetal pneumonectomy was performed but the fetus expired intraoperatively due to cardiovascular collapse. Post-mortem findings in both cases confirmed the presence of an atretic mainstem bronchus with massive enlargement of the lung. Bronchial atresia involving the mainstem bronchus is associated with a poor prognosis.     

Fetal hydrops associated with congenital pulmonary myofibroblastic tumor

Abstract We report on a fetus with a congenital pulmonary myofibroblastic tumor, the prenatal detection of which with imaging modalities has not been reported up until now. A 32-year-old woman was referred to our hospital at 29 weeks' gestation because of severe fetal hydrops. Sonograms and magnetic resonance imaging showed a large solid tumor in the left thorax. The fetus died in utero the next day. Autopsy confirmed that the tumor was confined to the lower lobe of the left lung, and circulatory insufficiency from compression by the tumor was considered to be the cause of fetal hydrops and demise. Histologic examination revealed that the tumor was composed of uniform short spindle cells with no atypia and a large number of vessels. In addition, with immunohistochemical studies, the tumor cells were stained for calponin but not for cluster differentiation (CD)-31, CD-34, alpha-smooth muscle actin or S-100.     

Case report of fetal lingual tumor – perinatal care and neonatal surgical intervention

Abstract

Fetal tumors are rare and can be difficult to diagnose in utero. In this presentation, we report an infantile hemangiopericytoma of the tongue, and also review the clinical characteristics, imaging appearances, perinatal differential diagnosis, and potential treatments of this tumors. Prenatal diagnosis of lingual fetal tumors with two-dimensional (2D) ultrasound presents a challenge to sonographers and perinatologists because these lesions are rare, usually develop in the third trimester of pregnancy and need a multidisciplinary approach. We describe an lingual tumor and moderate polyhydramnios which were prenatally detected at 31 weeks of gestation with two- dimensional ultrasound. The application of the surface mode of three-dimensional ultrasound improved the visualization of this tumor. Fetal Magnetic resonance imaging was performed to help in prenatal differential diagnostic. The option of prenatal cytology gained by amniocentesis should also be considered. To our knowledge there are no prenatal reports of similar cases. However, in our experience every information provided during the pregnancy, a correct and early diagnose of fetal condition helps to cope with the demands of perinatal management and to explain to the parents and neonatologists the findings of the case.     

A prenatal diagnosed case of primitive neuroectodermal tumor

Congenital brain tumors presenting in the first year of life account for 1.4-8.5% of all childhood brain tumors. Only 18% of congenital brain tumors are diagnosed before or at delivery. Primitive neuroectodermal tumor (PNET) is a highly malignant, small, blue-cell tumor which is characterized by early recurrence, metastasis, and high mortality. It makes up 13% of all fetal and neonatal brain tumors. Prenatal diagnosis of PNET or other congenital brain tumors is important because the presence of tumors may alter the time and mode of delivery and postnatal care planning. A prenatal case of PNET is described that was diagnosed with ultrasonography and magnetic resonance imaging; the case was confirmed histopathologically at postmortem examination.     

New modalities for imaging the fetal heart

Improvement in the prenatal diagnosis of congenital heart disease requires familiarity with advances ultrasound equipment and features and any new imaging methods that can effectively provide cardiac information from the fetus. This article discusses imaging the fetal heart with transvaginal ultrasound, Doppler ultrasound, intrauterine sonography, three-dimensional ultrasound (3DUS) and magnetic resonance imaging.     

Neonatal segmental cystic nephroma. A case report

Multicystic segmental renal dysplasia is rare in early childhood. We report a case with prenatally recognized renal malformation. Prenatally a cystic renal malformation was detected sonographically; postnatally further evaluation was performed by Doppler sonography, contrast enhanced CT and voiding cysto-urethrography leading to the diagnosis of a multicystic segmental nephroma. Due to increasing size in spite of therapeutic and diagnostic sonographic guided punctures and the atypic manifestation the baby underwent heminephrectomy. The final histological diagnosis confirmed preoperativ findings. CONCLUSION: Prenatally recognised cystiform renal malformations should be reevaluated postpartally by ultrasound and--as doubtful findings are found--further imaging might be necessary for follow up and for the decision on conservative or operative treatment.     

Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging

A case of fetal autosomal dominant microcephaly was prenatally diagnosed with ultrasonography in a woman with previously undiagnosed microcephaly. At the time of initial ultrasonographic assessment, the mother was identified to have a markedly small cranium, consistent with maternal microcephaly. The ultrasonographic examination showed the fetal head size to be four standard deviations below the mean for gestational age. Gestational dating from the other biometric parameters and from the last menstrual period was consistent with 31 weeks' gestation. Neurosonographic evaluation of the fetus revealed no obvious structural abnormalities. Serial ultrasonographic examinations at 35 and 38 weeks' gestation showed no changes in the fetal head size. A 2.64 kg male fetus was delivered at term. Neonatal assessment showed the fetal head circumference to be less than the second percentile for gestational age. Neurologic assessment of the neonate with magnetic resonance imaging showed abnormal development of the brain, with small cerebellar and cerebral hemispheres, and pachygyria. These images are compared with the magnetic resonance images of the mother. Our findings of maternal and fetal microcephaly are consistent with autosomal dominant microcephaly. To our knowledge, this is the first report of the prenatal diagnosis of autosomal dominant microcephaly.