Cases reported "Fetal Diseases"

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11/18. Massive cystic lymphangiomas of a fetus.

    We present a fetus with progressive massive subcutaneous lymphangiomas leading to intrauterine death. A 28-year-old woman was referred to our hospital because of a precordial cystic mass of the fetus. An ultrasound revealed lymphangiomas extending from bilateral axillae to the anterior chest wall. At 18 weeks' gestation, amniocentesis was performed and the karyotype of the fetus was found to be normal 46, XY. Thereafter the lesions increased in size gradually and spread over the body. amniotic fluid decreased, pericardial, and pleural effusion appeared, and cardiomegaly became evident. The fetus died in utero at 25 weeks' gestation. Postmortem examination revealed a male fetus surrounded with multicystic soft masses spreading over the body, and syndactyly (left third and fourth fingers) was present. Histologically, a number of irregularly dilated lymphatics extended through subcutaneous tissues to the skeletal muscles. No communications between the cysts and the thoracic or abdominal cavity existed, and no lymphatic dilations in the viscera were confirmed. As far as we know, such conditions have rarely been reported. Considering that in previous literature, a favorable prognosis of a fetus with an atypically located (lateral cervical or non-cervical) lymphangioma with a normal karyotype has been reported, our case may be included in a distinct pathological entity. When we find a lymphangioma in a fetus, careful follow-up by ultrasound is mandatory.
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12/18. Prenatal detection of restrictive foramen ovale.

    The foramen ovale is an important communication between the two sides of the heart prenatally, allowing the left ventricle to carry its share of the prenatal circulation and providing flow for growth of left ventricular structures. Restriction of the foramen ovale appears to be a serious disorder of the fetus and can be associated with fetal hydrops, arrhythmias, and other signs of major fetal compromise. This article reviews our experience with restriction of the foramen ovale and provides a summary of the pathologic and echocardiographic literature related to the etiology and effects of restrictive foramen ovale in the fetus.
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13/18. prenatal diagnosis of Dandy-Walker malformation: report of a case.

    Dandy-Walker malformation is one of the major causes of congenital hydrocephalus. We report on a case that was diagnosed by sonography in a fetus at 34 weeks' gestation. The diagnosis was confirmed by postnatal computed tomographic (CT) brain scan and magnetic resonance imaging (MRI). The prenatal sonographic findings were a large posterior fossa in communication with the fourth ventricle, a small and splayed cerebellar hemisphere and marked degrees of ventriculomegaly. The postnatal CT scan images were similar to the prenatal sonography. The hypoplasia of the cerebellar vermis and the associated hypogenesis of the corpus callosum can only be clearly delineated by MRI. Dandy-Walker malformation is one form of the Dandy-Walker complex and cystic malformations of the posterior fossa. It should be differentiated from Dandy-Walker variant, or mega-cisterna magna, and arachnoid cyst. Dandy-Walker complex may be associated with chromosomal, intracranial and extracranial abnormalities. Early in utero detection is useful for detailed evaluation of associated anomalies. Obstetric management depends on gestational age, karyotype abnormality and associated intracranial and extracranial anomalies. In the present report, the infant presented no progressive ventriculomegaly and no surgery was required. The infant developed normally.
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14/18. Acardiac twins.

    Three cases of twin pregnancy complicated by an acardiac twin are reported. This is a rare abnormality of twins. A vascular communication exists between the twins and the usually normal twin or so called 'pump' twin may develop cardiac failure as a result of perfusion of the abnormal twin. The acardiac twin is, generally, grossly abnormal with reduction anomalies, particularly of the upper part of the body, and gross oedema. Unless this abnormality is recognized the misdiagnosis of fetal death in utero may be made and the complications of the 'pump' twin may not be predicted. Three cases are presented with only one survivor.
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15/18. Persistent urogenital sinus: prenatal diagnosis and pregnancy complications.

    prenatal diagnosis of fetal hydrocolpos caused by persistent urogenital sinus is described. The urethrovaginal communication allowed urine to empty from the bladder into the vagina, which subsequently dilated, causing bilateral hydronephrosis, distention of the fetal abdomen, decreased urinary output, oligohydramnios, and abdominal dystocia at delivery.
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16/18. prenatal diagnosis of ventriculo-coronary communications in a second-trimester fetus using transvaginal and transabdominal color Doppler sonography.

    We report on the prenatal diagnosis of ventriculo-coronary communication associated with pulmonary atresia and an intact interventricular septum. The diagnosis was made by transvaginal color Doppler sonography at 17 weeks' gestation and confirmed by transabdominal sonography at 19 weeks. color Doppler demonstrated the communication between the distal hypoplastic right ventricle and the right coronary artery, with the course of this vessel situated along the outer heart wall. Spectral Doppler assessment showed bidirectional arterial flow in this vessel. Extracardiac skeletal anomalies (cleft hands and feet) were also detected and classified as an ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome. This led the parents to opt for termination of pregnancy. All findings were confirmed on autopsy. Using stereomicroscopy the malformations of the coronary system and main connections to the lumen of the right ventricle were additionally demonstrated. To our knowledge this is the first report on the identification of coronary artery malformations in a midtrimester fetus using transvaginal color Doppler. The early appearance enabled us to investigate the pathophysiological sequence of the combined defect. Further investigation might elucidate whether ventriculo-coronary communications arise secondary to pulmonary atresia and intact inter-ventricular septum, due to increased ventricular pressure, or are the primary defect leading to intrauterine pulmonary atresia or, indeed, whether both defects appear simultaneously.
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17/18. Herniation of the singular nerve into the round window niche.

    We report two cases of herniation of the singular nerve into the round window niche and one case of bony dehiscence without herniation between the round window niche and the posterior canal ampulla. It is believed that the middle ear and the inner ear are completely separate. However, in the temporal bone of a 10- to 15-week-old human fetus, a communication between the round window niche and the posterior canal ampulla is observed. Later, the mesenchymal tissue in the communication is replaced by cartilage from near the posterior canal ampulla. If the communication does not fill with cartilage, ossification is not able to begin behind the posterior canal crista. When there is bony dehiscence behind the crista, the singular nerve fibers are easily pressed out by ossified endosteal bone and herniated into the round window niche.
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18/18. Management of a case of twin-to-twin transfusion syndrome by a combined surgical approach.

    OBJECTIVE: The management of a case of severe twin-to-twin transfusion syndrome at 24 weeks of gestation is presented, using a combined surgical and medical approach. methods: Operative fetoscopy was used to coagulate placental vessels crossing the intertwin membranes. Repeated intrauterine transfusions were used to correct recurrent anemia in the donor twin. Selective three-dimensional placental angiography and directed histological analysis were used to study the placenta after delivery. RESULTS: Resolution of twin-to-twin transfusion syndrome was obtained by coagulation of placental anastomoses, but was followed by recurrent anemia in the donor twin. This was successfully treated by serial intrauterine blood transfusions, and 2 healthy twins were delivered at 31 weeks of gestation. One artery-to-vein anastomosis was demonstrated to be the only communication left between the two circulations. CONCLUSIONS: This case illustrates the limitations of placental surgery in twin-to-twin transfusion syndrome and highlights the need for ultrasound and Doppler follow-up of these high-risk fetuses to indicate further treatment. Placental anastomoses can be overlooked by macroscopic examination and injection technique, but can be demonstrated by placental angiography.
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