Cases reported "Fetal Diseases"

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1/74. Disseminated intravascular meconium in a newborn with meconium peritonitis.

    A 3-day-old premature infant with meconium peritonitis, periventricular leukomalacia, and pulmonary hypertension died with respiratory insufficiency. An autopsy disclosed intravascular squamous cells in the lungs, brain, liver, pancreas, and kidneys. Numerous pulmonary capillaries and arterioles were occluded by squamous cells, accounting for pulmonary hypertension. brain parenchyma surrounding occluded cerebral vessels showed infarct and gliosis. A mediastinal lymph node filled with squamous cells alluded to the mechanism by which these cells from the peritoneal cavity likely entered the bloodstream--namely, via diaphragmatic pores connecting with lymphatics. Thus, disseminated intravascular meconium rarely may complicate meconium peritonitis and have devastating consequences.
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2/74. prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease.

    We report a case of nonmosaic trisomy 9 presenting at 21 weeks of gestation with polycystic, echogenic horseshoe kidney, collapsed bladder, absent amniotic fluid, and intrauterine growth restriction. color Doppler imaging demonstrated no blood flow signals from renal vessels. fetal blood sampling confirmed a 47,XX, 9 karyotype, with no evidence of mosaicism, and increased serum beta2-microglobulin levels of 10.7 mg/l, consistent with severe renal failure. A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect. Follow-up examinations showed progressive growth restriction leading to fetal death at 33 weeks of gestation. This report demonstrates that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome.
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3/74. tetralogy of fallot in the fetus: findings at targeted sonography.

    OBJECTIVES: To evaluate the findings of tetralogy of fallot in various fetal sonographic views. methods: We reviewed the fetal sonograms and medical records of 20 fetuses with prenatal diagnosis of tetralogy of fallot. We analyzed the indications for targeted sonography, the abnormalities seen in various sonographic views, the postnatal echocardiographic and angiographic findings and autopsy findings. RESULTS: The most common indication for targeted sonography was an abnormal (n = 12) or inadequate (n = 3) finding on sonographic screening in which the abnormality was most frequently found on the three-vessel view (n = 9). The key pathological features of tetralogy of fallot were uniformly demonstrated in the ventricular outflow tract, three-vessel and short-axis views. The ductus arteriosus was small in 70% of cases and not identifiable in the remaining fetuses. In three of six fetuses with no identifiable ductus, the ductus was shown to be absent at autopsy. The direction of ductal flow was variable. CONCLUSION: The key features of tetralogy of fallot were always demonstrable in the ventricular outflow tract, three-vessel and short-axis views. The most common reason for referral was the abnormal three-vessel view.
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4/74. Fetal brain infection with human parvovirus B19.

    Intrauterine parvovirus B19 infection is known to be one of the causes of hydrops fetalis. However, there are few reports of the pathologic changes in the central nervous system. Postmortem examination of a fetus revealed multinucleated giant cells of macrophage/microglia lineage and many small calcifications around the vessels, predominantly in the cerebral white matter. parvovirus B19 genome dna was detected in the nucleus of the multinucleated giant cells and solitary endothelial cells by polymerase chain reaction amplification and in situ polymerase chain reaction methods. capsid antigen was also demonstrated in the cytoplasm of the endothelial cells by immunofluorescent assay. Thus, intrauterine B19 parvovirus infection could be associated with marked neuropathologic changes in the fetal brain at the midembryonal period. Neurologic follow-up of complications may be necessary for children who survive the intrauterine infection.
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5/74. hemangioma of the umbilical cord: stenotic change of the umbilical vessels.

    We report a rare case of an umbilical cord hemangioma diagnosed by ultrasound at 16 weeks of gestation. The umbilical cord consisted of a hemangioma nodule and pseudocysts near the placental insertion, a large gelatin-like swelling adjacent to the nodule on its fetal side, and a short normal part extending to the navel. At 17 weeks of gestation, this condition resulted in the intrauterine death of the fetus. Microscopically, there were communications between the capillary of the hemangioma and the umbilical vessels, verifying the origin of the tumor. Moreover, the umbilical vein and one of the arteries changed stenotically due to the intravascular proliferation of the hemangioma. These findings indicate the possibility of a pathological association between the umbilical cord hemangioma and fetal demise due to impaired umbilical circulation.
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6/74. Fetal diagnosis of common arterial trunk with interrupted aortic arch using color power Doppler angiography.

    We successfully visualized the brachiocephalic arteries and aortic arch in a fetus seen at 19 weeks of gestation with a common arterial trunk and interrupted aortic arch by means of color power Doppler angiography, a new diagnostic development of color Doppler echocardiography. Power Doppler imaging is more sensitive to the state of low flow in fetal vessels, thus providing better visualization of fetal vascular structures from an early gestational stage.
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7/74. Hepatic hemangioendothelioma: prenatal sonographic findings and evolution of the lesion.

    We describe a case of hepatic hemangioendothelioma that was first suspected based on prenatal sonographic findings at 19 weeks' menstrual age. At 16 weeks, the patient presented with a markedly elevated maternal serum alpha-fetoprotein level. Serial sonographic examinations revealed that the fetus had cardiomegaly, hepatomegaly with a hepatic mass and dilated intrahepatic vessels, a single umbilical artery, and a placental chorioangioma. Arteriovenous shunting within the hepatic mass was seen using color Doppler and pulsed Doppler sonography. An enlarged artery arising from the abdominal aorta supplying the mass was demonstrated. Postnatal physical examination and radiologic studies supported the diagnosis of hepatic hemangioendothelioma. The evolution in the sonographic appearance of this hepatic lesion in utero over a 17-week period is described.
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8/74. Diagnosis of left juxtaposition of the atrial appendages in the fetus.

    We describe two cases of left juxtaposition of the atrial appendages in which fetal echocardiograms provided a clue to the diagnosis. Both cases were associated with complex cyanotic congenital heart disease. The clue to the diagnosis was found at the three-vessel view. Abnormal vascular spaces were seen on the left side of the cross-sections of the great arterial trunks.
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9/74. Contribution of transvaginal ultrasonography and fetal cerebral MRI in a case of congenital cytomegalovirus infection.

    cytomegalovirus is the most common cause of congenital viral infection. In utero this infection is usually suspected on the basis of ultrasound findings. We present a case in which routine ultrasound examination demonstrated a decrease in fetal cephalic dimensions at 32 weeks' gestation in an asymptomatic patient. Transvaginal ultrasound revealed echogenic vessels in the thalami and lesions in the subependymal region. Suspected diagnosis of fetal cytomegalovirus infection was confirmed by positive titers of anti-cytomegalovirus-IgM antibodies in fetal blood and amniotic-fluid PCR studies. Fetal cerebral MRI demonstrated parenchymal atrophy and polymicrogyria. The parents decided to terminate the pregnancy, and necropsy confirmed the diagnosis. Suspicion of CMV fetal infection should prompt transvaginal ultrasound and fetal brain MRI.
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10/74. prenatal diagnosis of an aneurysm of the vein of Galen with three-dimensional color power angiography.

    The prenatal diagnosis of an aneurysm of the vein of Galen has been reported on only a few occasions. This rare arterio-venous fistula is suspected when an intracerebral hypoechoic cyst is found in which blood flow can be demonstrated by Doppler ultrasound. This is one of the few conditions where Doppler ultrasound is critical for the diagnosis. Three-dimensional color power Doppler (3D-CPA) is a recent ultrasound modality which enables the three-dimensional visualization of vessels and which is more readily available than magnetic resonance imaging (MRI) We report a fetus in which an aneurysm of the vein of Galen was detected at 33 weeks' gestation and where the application of 3D-CPA enabled a better understanding of the spatial orientation and course of the dilated vessels. The neonate was successfully treated with coil angiography but subsequently died at 5 months of age from cardiac decompensation. Where fetal malformations involve the vascular system, 3D-CPA appears to be a promising technique.
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