Cases reported "Fetal Diseases"

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1/24. Cytologic findings in a fetal intracranial teratoma. A case report.

    BACKGROUND: Fetal neoplasms are very rare. Recently we had the opportunity to examine the fine needle aspiration (FNA) biopsy of a fetal intracranial teratoma. CASE: The tumor was found in a 30-week-gestation fetus; the mother was 32 years old, gravida 4, para 1. She presented with a rapid increase in abdominal girth over a two-week period. An ultrasound scan showed severe fetal hydrocephalus and a massive intracranial tumor thought to be a teratoma because of variations in echogenicity and spotty calcification. An FNA biopsy was performed under ultrasound guidance. It showed mainly neuroepithelial cells, so a differential diagnosis of malignant neuroepithelial tumor was considered. At autopsy, several other tissue types were found in the tumor, consistent with a teratoma. CONCLUSION: Advances in diagnosis of fetal anomalies by ultrasound have been associated with an increase in the use of fetal interventions performed in utero. This includes the availability of fetal surgery in some centers. FNA biopsy of fetal lesions does not appear to be well described. Increased experience with this technique is necessary if its full potential is to be realized.
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2/24. Cellular mesoblastic nephroma: morphologic, cytogenetic and molecular links with congenital fibrosarcoma.

    Congenital mesoblastic nephroma (CMN) is a rare renal tumor of early infancy with a favorable outcome after complete surgical removal. CMN consists of a heterogeneous group of spindle cell tumors subdivided into "classical", "cellular or atypical" and "mixed" forms based on histologic features. We describe a new case of cellular CMN diagnosed by antenatal ultrasonography with complete remission five years after nephrectomy. Cytogenetic study evidenced a trisomy 11, and real time RT-PCR, but not conventional karyotype, allowed for the detection of the Tel-ETV6/TrkC-NTRK3 fusion transcript as a consequence of a cryptic t(12-15)(p13;q25). As in congenital fibrosarcoma (CFS), two Tel-ETV6/ TrkC-NTRK3 fusion transcripts different by a 42 bp insert in the TrkC kinase domain were expressed. Our observations outline the close links between cellular CMN and CFS. Both tumors have the clinical presentation and histologic features as well as identical cytogenetic and molecular markers in common. Therefore, they are likely to represent the same neoplasm, but occurring at different locations.
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3/24. Lethal progression of a fetal intracranial arteriovenous malformation.

    Fetal intracranial vascular tumors present unique clinical challenges. Accurate diagnosis of the lesion, as well as an understanding of the local and systemic impacts, will guide the antenatal surveillance and the treatment plan and will determine the prognosis. Management will be altered by and dependent on intrauterine progression, gestational age, and fetal condition at birth. In addition, large vascular tumors can lead to the development of the Kasabach-Merritt sequence in the fetus and to either fetal or maternal hemodynamic impairment. Vascular tumors are either malformations or neoplasms. color and pulsed wave Doppler sonography are useful for the identification of vascular lesions and help narrow the differential diagnosis. Once a vascular malformation is identified, a comprehensive anatomic survey is mandatory to determine whether there are coexistent malformations that impact either the diagnosis or prognosis. These lesions can have local mass effects, systemic hemodynamic effects, or both. Therefore, longitudinal assessment of the fetus is focused on the detection of lesion progression and on any fetal or maternal status changes. We report the prenatal diagnosis of an intracranial arteriovenous malformation (AVM) with a dramatic progression affecting both mother and fetus.
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keywords = neoplasm
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4/24. early diagnosis of fetal sacrococcygeal teratoma: a case report.

    Sacrococcygeal teratoma is a rare fetal neoplasm with an incidence of 1 in 40,000 births. Antenatal diagnosis is usually made after 22 weeks of gestation. Fetuses with this malformation are at risk of significant perinatal morbidity and mortality. Malignant components, coexisting with life-threatening anomalies, and chromosomal abnormalities are rare. Postulated causes of perinatal death include hydrops, dystocia, tumor rupture, preterm labor secondary to polyhydramnios, and anemia due either to hemorrhage or hemolysis within the tumor. Herein, we present a case of fetal sacrococcygeal teratoma diagnosed as early as 17 weeks of gestation.
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keywords = neoplasm
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5/24. Kaposiform hemangioendothelioma associated with nonimmune fetal hydrops.

    We describe the case of a 31-week fetus who died in utero with an invasive retroperitoneal kaposiform hemangioendothelioma. This rare vascular neoplasm usually presents as a localized violaceous skin lesion in infants and behaves in a benign fashion; however, kaposiform hemangioendothelioma may present as an invasive neoplasm of the chest or abdominal cavity, where it can lead to the kasabach-merritt syndrome, which consists of thrombocytopenia, consumptive coagulopathy, and microangiopathic anemia in association with a vascular anomaly. The case we describe is unique in that the tumor presented in utero and led to intrauterine nonimmune fetal hydrops. Kaposiform hemangioendothelioma has been described in utero; however, to our knowledge, intrauterine fetal death as a direct consequence has not been reported previously in the literature.
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keywords = neoplasm
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6/24. A third case of cardiac neoplasm in a fetus with beckwith-wiedemann syndrome: epicardial angiofibroma.

    OBJECTIVE: A personal observation of a 20-week-old fetus with Beckwith-Wiedemann syndrome (BWS) presenting epicardial angiofibroma prompted us to evaluate cardiac neoplasms in this genetic condition. METHOD: We performed an autopsy and a histological evaluation of the fetus, and searched the literature for cardiac anomalies in BWS. RESULTS: Although cardiac tumors are exceptional and although BWS is rare, we found two other cardiac neoplasms in infants with BWS, whereas no more than one was expected. CONCLUSION: Besides an excess of cardiac malformation, BWS seems to favor an excess of cardiac tumors, which may occur very early.
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keywords = neoplasm
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7/24. Congenital cervical teratoma, associated with agenesis of corpus callosum and a subarachnoid cyst.

    Cervical teratoma is a neoplasm composed of embryonic tissues with representation of all three germ layers. We report an extremely rare case of fetal cervical teratoma presenting at 24 weeks of gestation. A submaxillary mass and agenesis of corpus callosum were identified on ultrasonography, associated with agenesis of corpus callosum and a subarachnoid cyst.
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keywords = neoplasm
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8/24. Maternal and female fetal virilization caused by pregnancy luteomas.

    OBJECTIVE: To present the maternal and female fetal virilization caused by excessive androgen secretion of pregnancy luteomas. DESIGN: Case report. SETTING: University-based teaching hospital. PATIENT(S): A nulligravida woman suffering from bilateral hydronephrosis and recurrent acute pyelonephritis caused by bilateral solid ovarian tumors presented virilization during the third trimester. Without prompt surgical intervention, the maternal hyperandrogenemia returned to a normal level and regression of bilateral ovarian tumors occurred spontaneously after a female fetus with clitoral hypertrophy and temporal hyperandrogenemia was delivered. In spite of lacking histology, the clinical course is compared to that of pregnancy luteomas. INTERVENTION(S): Noninvasive imaging assessment. MAIN OUTCOME MEASURE(S): Maternal and female fetal virilization. RESULT(S): Regression of androgen-secreting pregnancy luteomas and hyperandrogenism during the puerperium but apparent female fetal clitoral hypertrophy. CONCLUSION(S): The maternal and female fetal virilization was caused by exaggerating androgen secretion of bilateral ovarian solid tumors. Spontaneous regression of ovarian tumors and hyperandrogenemia during the puerperium is the natural course of pregnancy luteomas, not true neoplasms.
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ranking = 1
keywords = neoplasm
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9/24. Cardiac rhabdomyoma with tuberous sclerosis: a case report.

    BACKGROUND: Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the first year of life. Cardiac rhabdomyomas are frequently associated with tuberous sclerorosis. CASE: A 25-year-old, pregnant woman with no remarkable personal or family history was referred to us for a suspected fetal cardiac anomaly. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. Postnatal echocardiography confirmed the presence of cardiac rhabdomyoma, and periventricular subependymal multiple hamartomas were diagnosed by postnatal magnetic resonance imaging. CONCLUSION: When fetal cardiac rhabdomyoma is diagnosed, careful evaluation of other fetal structures, including brain and renal parenchyma, should be performed to search for signs of tuberous sclerosis.
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keywords = neoplasm
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10/24. Giant intracranial teratoma and lack of cortical development in a fetus. Case report.

    Antenatal diagnosis of an intracranial neoplasm is extremely rare. The authors describe a case in which a 21-week-old fetus was found, by using fetal ultrasonography, to have a large intracranial mass. Fetal magnetic resonance (MR) images, obtained at 21 and 25 weeks' gestation, supported the diagnosis of a teratoma. As the tumor increased in size, near-complete brain atrophy ensued. Premature labor was induced, and a nonviable fetus died within minutes of delivery. Postmortem analysis confirmed a teratoma occupying a major portion of the intracranial space. In cases in which abnormal brain development is suspected in a fetus, the use of fetal MR imaging can give a clearer picture of the pathological entity, which may allow for a more accurate diagnosis. The usefulness of fetal MR imaging in monitoring brain development and tumor growth during treatment planning is discussed.
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ranking = 1
keywords = neoplasm
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