1/15. 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.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/15. 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.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/15. Mesenchymal stem villous hyperplasia of the placenta and fetal growth restriction.BACKGROUND: Mesenchymal stem villous hyperplasia of the placenta is a rare placental anomaly characterized by placental vascular malformation and the appearance of a partial mole. CASE: A multiparous woman presented with fetal growth restriction (FGR) at 35 weeks' gestation. Ultrasonographic examination showed multiple anechoic lesions on the placental surface. Cesarean delivery was performed at 37 weeks' gestation, and a healthy 1536-g female was delivered. The placenta had aneurysmal dilatations of the chorionic vessels. Unlike other cases, it also showed subamniotic hemorrhage and had no features of a partial mole. Histologic examination established the diagnosis of mesenchymal stem villous hyperplasia of the placenta with severe thrombosis. CONCLUSION: Fetal growth restriction can be caused by severe thrombosis in this placental anomaly.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/15. A case of antiphospholipid syndrome with cutaneous ulcer and intrauterine fetal growth retardation.A 28-year-old patient presented with severe intrauterine fetal growth retardation (IUGR) at 34 weeks' gestation. There was a prior history of a recurrent cutaneous ulcer on the left thigh. Serological tests for IgG anticardiolipin antibody were positive. A live premature male infant was delivered by an urgent cesarean section because of fetal distress. Histopathological examination revealed that the causes of the cutaneous ulcer and IUGR were thrombosis of the small blood vessels and placental infarction, respectively. early diagnosis and proper treatment are important in the management of the antiphospholipid syndrome.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/15. trisomy 5 mosaicism detected prenatally with an affected liveborn.This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. trisomy 5 cells were measured from 25 per cent of amniocytes from two culture vessels. No further invasive testing was performed until 32 weeks' gestation, at which time ultrasound examination showed a fetus with intrauterine growth retardation. fetal blood sampling was then performed, with only karyotypically normal cells recovered. At birth, the child was found to have multiple dysmorphic features and congenital anomalies, including an eventration of the diaphragm and ventricular septal defect, both of which required surgical correction. Chromosomal analysis of cord blood lymphocytes indicated 46,XY; however, 20 per cent of the cultured fibroblasts obtained from the chest skin at the incision site for diaphragmatic repair had a 47,XY, 5 karyotype. trisomy 5 mosaicism may be another example of tissue-limited mosaicism. fetal blood sampling can then be falsely reassuring. Furthermore, because some cell lines rarely appear in lymphocyte populations, cytogenetic analysis of multiple tissues is warranted as part of the evaluation of individuals with developmental delay and dysmorphic features.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/15. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.Adams-Oliver syndrome (AOS) consists of congenital scalp defects with variable limb defects of unknown pathogenesis. We report on two children with AOS plus additional features including intrauterine growth retardation (IUGR), cutis marmorata telangiectatica congenita (CMTC), pulmonary hypertension (PH), intracranial densities shown in one case to be sites of active bleeding and osteopenia. autopsy in one case revealed defective vascular smooth muscle cell/pericyte coverage of the vasculature associated with two blood vessel abnormalities. Pericyte absence correlated with vessel dilatation while hyperproliferation of pericytes correlated with vessel stenosis. These findings suggest a unifying pathogenic mechanism for the abnormalities seen in AOS. These and previously reported cases establish that a subset of AOS patients is at high risk for PH.- - - - - - - - - - ranking = 3keywords = vessel (Clic here for more details about this article) |
7/15. Flow velocity waveforms of the fetal circulation preceding fetal death in a case of lupus anticoagulant.Flow velocity waveforms of the vascular system were evaluated at 25 weeks 2 days and 27 weeks 5 days of gestation in the case of a severely growth-retarded fetus. At the first scan, the cerebral vessels displayed low pulsatility indexes, reflecting the brain-sparing pattern that characterizes fetal stress. This compensatory reduction was lost at the time of the second, "preterminal" scan.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
8/15. Transcranial Doppler evaluation of cerebral infarction in the neonate.We recorded cerebral artery flow velocities (CAFV) in two neonates with cerebral infarction, using transcranial Doppler sonography (TCD). cerebral infarction was diagnosed by brain imaging. The arteries investigated were the middle cerebral artery (MCA), the internal carotid artery (ICA) and the anterior cerebral artery (ACA). The whole territory of right MCA was involved. A decrease in CAFV was noted in MCA and ICA of the affected side. Furthermore, early recordings of CAFV allowed us to distinguish perinatal infarction from antenatal infarction: in the former, Doppler signal was completely absent during the first days of life whereas in the latter, Doppler signal was reduced but present. The process of recanalization could be followed. The asymmetry of CAFV recorded in the neonatal period seems to persist definitively at least in MCA. These Doppler data correlate well with the evolutive stages of cerebral infarction shown by brain imaging. Beside US, CT and MRI scans, TCD may be a useful adjunct for identifying and following infants with suspected occlusion of major cerebral vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
9/15. Fibrinoid and trophoblastic necrosis with massive chronic intervillositis: an extreme variant of villitis of unknown etiology.A placental lesion, characterized by fibrinoid and trophoblastic necrosis with massive infiltration of the intervillous space by mononuclear cells (massive chronic intervillositis, MCI), was observed in six cases, five with intrauterine growth retardation (IUGR) and one with sudden intrauterine fetal death. Four out of six had chronic villitis of unknown etiology (CVUE) associated with this lesion, and five had lesions of anchoring villitis. In three cases, acute atherosislike lesions in spiral arteries of parietal and/or basal decidua were observed. Massive deposits of IgM, a smaller amount of C3 and Clq, and slight deposits of IgG and IgA were found in these vessels. Neither mothers nor infants had any clinical or serological evidence of infection. Cases with MCI were compared with those having CVUE without intervillositis. patients with MCI showed lower values of infant weight, infant length, and ponderal index than controls. However, cases with MCI group showed a higher incidence of IUGR. Placentas from the MCI group had a greater number of acute atherosislike lesions than controls. Massive chronic intervillositis may represent an extreme variant of villitis of unknown etiology. A maternal immunological aggression toward fetal tissues is proposed as pathophysiological mechanism, although a nondetermined placental infection cannot be excluded.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
10/15. Prenatal ultrasound diagnosis of congenital heart disease associated with intrauterine growth retardation. A report of 2 cases.Two fetuses with extreme growth retardation (IUGR) of 31 and 34 weeks gestation were studied using a combination of two dimensional echocardiography (2DE), pulse wave Doppler (PWD) and differential measurement of the instantaneous vessel diameter techniques. The first fetus was diagnosed as having univentricular heart or possible double outlet right ventricle (DORV). Descending aorta blood flow was reduced as was indexing for weight. The second fetus was diagnosed as having univentricular heart with periodic bigeminal and trigeminal rhythm. Descending aorta blood flow was measured on two occasions and was reduced both times. Indexing for weight was within normal limits the first time and showed gross reduction on the second occasion prior to fetal demise. fetal death occurred in both cases at 34 weeks gestation. Cardiovascular evaluation in fetuses with IUGR is useful as the detection of severe congenital cardiac abnormalities may substantially alter the management of these pregnancies, in particular caesarean section may be avoided when the prognosis for the fetus is considered hopeless.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
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