Cases reported "Fetal Diseases"

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1/358. Favorable outcome in a fetus with an early-onset extensive cystic hygroma colli and intralesional hemorrhage.

    We present a rare occurrence of an early-onset extensive cystic hygroma colli with intralesional hemorrhage and a favorable outcome. A 23-year-old primigravida woman was referred for management of a left isolated extensive cystic hygroma colli at 22 weeks' gestation. amniocentesis revealed a 46, XY karyotype. Ultrasound-guidance in utero paracentesis was performed weekly or fortnightly from 22 to 36 gestational weeks. The aspirated fluid was chocolate-colored and contained abundant lymphocytes, erythrocytes, and protein. Despite multiple aspirations, the fetal cystic hygroma colli increased in size from 5.2x4.2 cm at 22 weeks' gestation to 9x9.7 cm at 36 weeks' gestation. The woman underwent cesarean section at 36 week's gestation and a-2808 g neonate was born with a 10x6 cm left neck mass, which did not impair spontaneous normal respiration. At the age of 4 days, the neonate underwent simple excision of the cystic hygroma, which was confined to the anterior superficial neck. The neonate was discharged 4 days after operation in good condition. In the present case, in utero paracentesis did not prevent the progressive growth of an early-onset extensive cystic hygroma colli with intralesional hemorrhage. However, lack of extension of the lesion into the surrounding structures and successful postnatal surgery contributed to the favorable outcome of this patient.
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2/358. Maternal syndrome associated with hydrops fetalis: case report.

    A case of maternal fluid retention syndrome associated with fetal hydrops due to rhesus isoimmunisation is reported. The aetiology and clinical features are discussed. Prophylactic anti-Rh immunoglobin should reduce the incidence of such cases in the future.
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3/358. Neurological morbidity after fetal supraventricular tachyarrhythmia.

    BACKGROUND: Fetal tachyarrhythmia is a well-documented entity which, in the absence of pharmacological intervention, may lead to congestive heart failure, fetal hydrops and eventually fetal demise. The success rate of the implemented treatment is generally measured by survival and achievement of control of the arrhythmia. We report on the occurrence of associated cerebral damage in three patients with fetal tachycardia. methods: We describe three patients with a history of fetal supraventricular tachyarrhythmia who developed cerebral complications in utero. RESULTS: Two patients had cerebral hypoxic-ischemic lesions and one had hemorrhagic lesions present at birth. They had developed severe congestive heart failure and fetal hydrops secondary to fetal tachyarrhythmia, and there were no other obvious causes for the cerebral pathology. Two of these patients were referred to us antenatally. Therapy was instituted and resulted in control of the tachycardia and resolution of hydrops. The third patient was referred to our clinic shortly after birth because of severe circulatory problems secondary to fetal tachyarrhythmia. CONCLUSION: From these observations, we believe that a fetus with tachyarrhythmia and subsequent hydrops is at increased risk for the development of cerebral complications, due to the circulatory disturbances and sudden changes in heart rate which may lead to fluctuations in cerebral perfusion. This would imply that it is of the utmost importance to aim at immediate and complete control of the heart rate in the treatment of fetal tachyarrhythmia.
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4/358. Prenatal sonographic features of embryonal rhabdomyosarcoma.

    We describe a case of fetal rhabdomyosarcoma detected during the third trimester of pregnancy by prenatal sonography. At 33 weeks' gestation, sonography performed because of suspected polyhydramnios showed a solid mass of 120 x 54 mm arising from the anterior wall of the fetal thoracic cage. Another mass within the left maxillary area which originated from the left orbital floor was also detected. In the abdomen, there were multiple round masses in and around the liver. As the previous scan at 28 weeks had appeared normal, the multiple masses which became visible and enlarged rapidly in different locations led us to believe that there was fetal cancer. The most likely diagnosis was rhabdomyosarcoma (which was later confirmed), because it is the most prevalent soft-tissue tumor in children and may develop within or outside muscle anywhere in the body and at any age. Two other reported cases which were detected by prenatal ultrasound examination are also discussed.
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5/358. Use of recombinant human erythropoietin (EPO-alfa) in a mother alloimmunized to the Js(b) antigen.

    erythropoietin (EPO) is a glycoprotein hormone and the principal regulator of erythropoiesis in the fetus, newborn, and adult. EPO-alfa is erythropoietin manufactured by recombinant human dna technology (rhEPO). After counseling, a pregnant woman with anti-Js(b) in her serum was started on rhEPO (600 U/Kg, biweekly) to prevent anemia secondary to serial donations of her blood for fetal transfusions. After a total of 25 rhEPO infusions and autologous donation of 8 units of whole blood, maternal hemoglobin prior to the elective cesarean section at 37 weeks was 11.3 gm/dL. serum EPO concentration was determined in paired maternal and fetal blood samples, before ultrasound guided intravascular transfusions, in this alloimmunized Js(b)-negative and another Rh(D) alloimmunized pregnancy to determine possible correlations between maternal and fetal serum EPO. rhEPO prevented anemia in a patient who donated 8 units of blood from 18-37 weeks of pregnancy without inducing adverse biological effects such as hypertension or thrombotic complications in the placenta. Data presented in this study suggest that EPO does not cross the human placenta.
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keywords = rh
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6/358. Massive fetomaternal hemorrhage: how long should children with good evolution be controlled? A case report.

    We report on a term infant with a severe fetomaternal hemorrhage that caused a serious anemia that was surmounted after several transfusions. After the initial complications, such as persistent pulmonary circulation, severe anemia and thrombocytopenia, the outcome was good. We discuss the importance of a long-term follow-up of affected children, as well as their mothers. No clear parameters for a real prognosis are available. A follow-up is needed in order to detect possible complications in neurological development.
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7/358. prenatal diagnosis of fetal adrenal masses: differentiation between hemorrhage and solid tumor by color Doppler sonography.

    We present four cases of fetal adrenal masses detected by routine prenatal ultrasound, of which three were adrenal hemorrhages and one was a fetal neuroblastoma. The differential diagnoses of fetal adrenal mass include adrenal hemorrhage, neuroblastoma, adrenal and cortical renal cysts, pulmonary sequestrations, duplication of the renoureteral system and beckwith-wiedemann syndrome. These can pose a diagnostic and therapeutic dilemma. A systematic comparison of the pre- and postnatal sonographic features including color Doppler imaging may help to differentiate adrenal hemorrhage from neuroblastoma prenatally.
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8/358. prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation.

    We report the ultrasound detection of cranial abnormalities at 14 weeks' gestation in a fetus subsequently confirmed as having tuberous sclerosis using dna linkage analysis within the affected family. The presence of asymmetrical ventricular enlargement persisted antenatally. magnetic resonance imaging at 26 weeks indicated the possibility of poor gyral formation consistent with a neuronal migration disorder. Cardiac rhabdomyomata were not visualized on ultrasound scan until 30 weeks' gestation. Postnatal cranial ultrasound confirmed the significant neuropathology which was manifested by severe developmental delay and intractable fits in the child. The potential benefits of earlier diagnosis of tuberous sclerosis by cranial imaging are discussed, although in this patient the routine booking scan resulted in a path of prenatal diagnosis being undertaken which had originally been declined. A mechanism is proposed to explain the variable expression of tuberous sclerosis within this family based on altered TSC2 activity affecting neuronal migration.
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9/358. tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.

    A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY, 21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.
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10/358. Fetal hydrocephalus secondary to intraventricular hemorrhage diagnosed by ultrasonography and in utero fast magnetic resonance imaging. A case report.

    Although fetal hydrocephalus is commonly detected by prenatal ultrasonographic examination, posthemorrhagic hydrocephalus has rarely been observed in the fetus. We report a case of hydrocephalus secondary to intraventricular hemorrhage (IVH) diagnosed by in utero magnetic resonance imaging (MRI) at 37 1 weeks of gestation. ultrasonography revealed enlargement of the bilateral ventricles and an irregular mass measuring 20 x 12 x 10 mm in the right lateral ventricle. T1-weighted images with two-dimensional fast low-angle shot (2D-FLASH) and T2-weighted images with half-Fourier single-shot turbo spin echo (HASTE) demonstrated that an old hemorrhagic clot existed in the right lateral ventricle of the fetus. hydrocephalus secondary to IVH was confirmed by postnatal MRI and ventriculoscopy. Fast MRI is especially useful for prenatal diagnosis of fetal brain abnormalities because it minimizes the artifact of fetal movement.
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