Cases reported "Fetal Death"

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1/43. 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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2/43. 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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3/43. 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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4/43. Congenital hyperthyroidism: autopsy report.

    We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and hemorrhagic suffusions in the epicardium. The placenta had infarctions that involved at least 20% of its surface, and the vessels of the umbilical cord were fully exposed due to a decrease in Wharton's jelly. hyperthyroidism was confirmed by the maternal clinical data, the fetal findings of exophthalmia, craniosynostosis, and goiter with signs of follicular hyperactivity. Craniosynostosis is caused by the anabolic action of thyroid hormones in bone formation during the initial stages of development. The delayed initiation of treatment in the present case contributed to the severity of fetal hyperthyroidism and consequent fetal death.
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5/43. aneurysm of the umbilical vein: case report and review of literature.

    We report a case of aneurysm of the umbilical vein, causing fetal death at 41 weeks gestation. We conclude that these aneurysms are a complication of congenital thinning of the vessel wall and want to emphasize that in stillbirths the cause of death may only be revealed by careful placental examination, including the umbilical cord.
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6/43. In utero development of hypertensive necrotizing pulmonary arterial lesions: report of a case associated with premature closure of the ductus arteriosus and pulmonary hypoplasia.

    Premature closure of the ductus arteriosus (PCDA) is an uncommon defect in which pulmonary hypertension (PH) has been documented by echocardiography in patients and by direct measurement after experimental PCDA in animals. The pulmonary vascular histology in human cases has received little attention but in the few recorded observations the vessels were either normal or showed increased muscularity. We report the case of a 31 week hydropic female stillborn monozygotic twin in whom postmortem examination disclosed PCDA and hypoplasia of the lungs. Atypical plexiform lesions with necrotizing pulmonary arteritis were present. These lesions represent vascular consequences of severe pulmonary hypertension produced by greatly enhanced blood flow through a restricted vascular bed resulting from the combined effects of these two abnormalities. The findings in this case of PCDA with presumed severe PH indicate that severe pulmonary vascular changes can develop in utero and that the interval of time needed for development of such chances in secondary PH is relatively short.
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7/43. Ultrasound in the diagnosis of twin-to-twin transfusion syndrome--a preliminary report.

    OBJECTIVE: The aim of this study was to show the diagnostic possibilities of ultrasound in twin-to-twin transfusion syndrome (TTTS), to demonstrate its usefulness in cases of hemoglobin difference < 5 g/dL in neonates as well as in cases complicated by intrauterine death of one or both twins. STUDY DESIGN: The study included 4 pairs of twins. In two cases 3 fetuses died in utero. In the other two the hemoglobin difference in newborn infants was < 5 g/dL. The ultrasound examination, evaluating the fetal anatomy and biometry, amniotic fluid volume, placentation, was performed. The special attention was paid to polyhydramnios/oligohydramnios, discordant fetal growth (fetal weight, abdominal circumference), the presence of fetal hydrops, ascites, pericardial effusion. Doppler blood flow velocimetry has been done in umbilical vessels, middle cerebral artery. The data was compared with normal reference values for singleton pregnancies. The waveforms from both uterine arteries were also evaluated to exclude placental insufficiency. Additionally the blood flow through the AV valves was measured to exclude or confirm its regurgitation. Postnatally the hemoglobin difference was evaluated if available and compared with sonographic findings. RESULTS: In all cases inter-twin difference in abdominal circumference was greater than 18 mm and inter-twin weight difference of more than 15%. We observed polyhydramnios/oligohydramnios in all twin pregnancies. It has been found decreased PI in middle cerebral artery in larger fetus (recipient) in all our cases (comparing to single pregnancy). PI values for this vessel in smaller fetuses were within normal range (for single pregnancy). PI values in umbilical arteries of recipients were abnormal (increased PI or absent end-diastolic flow). COMMENTS: The sonographic criteria seem to be very useful in diagnosis of twin-to-twin transfusion syndrome, especially in cases where the measurement of hemoglobin level is impossible. Doppler blood flow velocimetry in fetal vessels helps to explain the changes in fetal hemodynamics in TTTS.
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8/43. Intrauterine fetal death due to Farber disease: case report.

    We report a case of Farber disease in a fetus who died in utero at a gestational age of 29 weeks. Macroscopic examination showed moderate postmortem changes in a microcephalic female fetus (46,XX) with mild internal hydrops, two vessels in the umbilical cord, and a moderately enlarged, relatively well-preserved spleen. Microscopic examination showed foamy cells in the spleen. Electron microscopic examination revealed the presence of Farber bodies within these foamy cells. Enzyme studies of the fetus were not possible because all tissues were formalin fixed. lipids were extracted from formalin-fixed tissues and increased levels of ceramide and the presence of hydroxyceramide in tissue of the spleen, liver, and lung were found. Glucosylceramide was not increased excluding saposin-precursor-deficiency. Because of these findings, both parents were tested for acid ceramidase activity in their leukocytes. They both had markedly reduced enzyme activity consistent with heterozygosity for Farber disease. To the best of our knowledge, this is the first published case of Farber disease in Dutch nonconsanguineous parents.
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9/43. Mesenchymal dysplasia of the placenta.

    A severe case of placental mesenchymal dysplasia occurred in association with intrauterine fetal death (IUFD). The gravida-1, para-1 mother was a 26-year-old Japanese. The first pregnancy was unremarkable and a healthy female infant was delivered. The present pregnancy had been uneventful until 34 weeks of gestation when IUFD was detected. The 1516-g (mean /- SD, 2050 /- 387 g) stillborn infant had no external abnormalities and the karyotype was 46,XX. The placenta was markedly enlarged (1050 g; mean /- SD, 452 /- 202 g), and approximately 80% was occupied by extraordinary enlarged villous structures with a myxoid appearance. Histologically, the dysplastic villi had myxoid stroma and a decreased number of, occasionally obliterated, fetal vessels. There was no abnormal trophoblastic proliferation. Large-sized fetal vessels in the chorionic plate frequently contained organized thrombi. This is the first case of placental mesenchymal dysplasia, which possibly lead to the IUFD.
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10/43. prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.

    We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.
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