The Experts below are selected from a list of 258 Experts worldwide ranked by ideXlab platform
Ron A Wevers - One of the best experts on this subject based on the ideXlab platform.
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congenital disorder of glycosylation type ia presenting with Hydrops fetalis
Journal of Medical Genetics, 2007Co-Authors: J M Van De Kamp, Dirk J Lefeber, G J G Ruijter, Sylke J Steggerda, N Den S Hollander, Stefan M Willems, Gert Matthijs, B J H M Poorthuis, Ron A WeversAbstract:There is a growing awareness that inborn errors of metabolism can be a cause of non-immune Hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and Hydrops fetalis has been based on one case report concerning two sibs with Hydrops fetalis and CDG-Ik. Since then two patients with Hydrops-like features and CDG-Ia have been reported. Two more unrelated patients with CDG-Ia who presented with Hydrops fetalis are reported here, providing definite evidence that non-immune Hydrops fetalis can be caused by CDG-Ia. The presence of congenital thrombocytopenia and high ferritin levels in both patients was remarkable. These might be common features in this severe form of CDG. Both patients had one severe mutation in the phosphomannomutase 2 gene, probably fully inactivating the enzyme, and one milder mutation with residual activity, as had the patients reported in literature. The presence of one severe mutation might be required for the development of Hydrops fetalis. CDG-Ia should be considered in the differential diagnosis of Hydrops fetalis and analysis of PMM activity in chorionic villi or amniocytes should also be considered.
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lysosomal storage diseases in non immune Hydrops fetalis pregnancies
Clinica Chimica Acta, 2006Co-Authors: Angelique J A Kooper, Pim M W Janssens, Akosua N J A De Groot, Maria Liebrandvan L F Sambeek, Catharina J M G Van Den Berg, Gita B Tansindhunata, Paul P Van Den Berg, Emilia K Bijlsma, A P T Smits, Ron A WeversAbstract:BACKGROUND: At least 20 inborn errors of metabolism may cause Hydrops fetalis. Most of these are lysosomal storage diseases. The study proposes a diagnostic flowchart for prenatal diagnosis of non-immune Hydrops fetalis. METHODS: This study contains a series of 75 non-immune Hydrops fetalis pregnancies. Mucopolysaccharides, oligosaccharides, neuraminic acid and 21 lysosomal enzymes were measured in amniotic fluid and cultured amniotic cells. RESULTS: The study gives reference values for mucopolysaccharides and neuraminic acid at various stages of gestation. Four definite and two probable lysosomal diagnoses were found among the 75 investigated cases (=5.3-8%). Fetal death was found to cause false positive values for mucopolysaccharides in amniotic fluid. In the galactosialidosis case, two novel mutations were found in the cathepsin A gene. CONCLUSIONS: Reference values for mucopolysaccharides and neuraminic acid depend on gestational age. In a relatively high percentage of the Hydrops foetalis pregnancies, a lysosomal aetiology is found. This study provides a strategy to diagnose lysosomal diseases in Hydrops fetalis pregnancies. Awareness of lysosomal storage diseases causing Hydrops fetalis is useful as it gives an opportunity for risk evaluation, genetic counseling to parents and targeted prenatal diagnostics for ensuing pregnancies.
Angelique J A Kooper - One of the best experts on this subject based on the ideXlab platform.
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lysosomal storage diseases in non immune Hydrops fetalis pregnancies
Clinica Chimica Acta, 2006Co-Authors: Angelique J A Kooper, Pim M W Janssens, Akosua N J A De Groot, Maria Liebrandvan L F Sambeek, Catharina J M G Van Den Berg, Gita B Tansindhunata, Paul P Van Den Berg, Emilia K Bijlsma, A P T Smits, Ron A WeversAbstract:BACKGROUND: At least 20 inborn errors of metabolism may cause Hydrops fetalis. Most of these are lysosomal storage diseases. The study proposes a diagnostic flowchart for prenatal diagnosis of non-immune Hydrops fetalis. METHODS: This study contains a series of 75 non-immune Hydrops fetalis pregnancies. Mucopolysaccharides, oligosaccharides, neuraminic acid and 21 lysosomal enzymes were measured in amniotic fluid and cultured amniotic cells. RESULTS: The study gives reference values for mucopolysaccharides and neuraminic acid at various stages of gestation. Four definite and two probable lysosomal diagnoses were found among the 75 investigated cases (=5.3-8%). Fetal death was found to cause false positive values for mucopolysaccharides in amniotic fluid. In the galactosialidosis case, two novel mutations were found in the cathepsin A gene. CONCLUSIONS: Reference values for mucopolysaccharides and neuraminic acid depend on gestational age. In a relatively high percentage of the Hydrops foetalis pregnancies, a lysosomal aetiology is found. This study provides a strategy to diagnose lysosomal diseases in Hydrops fetalis pregnancies. Awareness of lysosomal storage diseases causing Hydrops fetalis is useful as it gives an opportunity for risk evaluation, genetic counseling to parents and targeted prenatal diagnostics for ensuing pregnancies.
George A Neubert - One of the best experts on this subject based on the ideXlab platform.
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Hydrops fetalis secondary to parvovirus b19 infections
Journal of The American Board of Family Practice, 2003Co-Authors: Jin Xu, Thomas C Raff, Nabil S Muallem, George A NeubertAbstract:Background: Fetal infection by human parvovirus B19 is a common cause of fetal anemia, nonimmune Hydrops fetalis, and spontaneous abortion and can result in fetal death. Recent improvements in diagnosing parvovirus infections and the availability of intrauterine transfusion have reduced the overall rate of fetal loss after maternal exposure. Methods: We report two cases of maternal parvovirus infection with classic findings of Hydrops fetalis and review various aspects of parvovirus infection with emphasis on the developing management options in pregnancy. Results and Conclusions: Different management led to different results. In the first case there was normal neonatal and infantile development, and in the second case, the fetus died. With accurate laboratory testing, obstetric sonography, and fetal transfusion, the fetal mortality from parvovirus infection has been reduced considerably, and most pregnancies complicated by maternal parvovirus infection result in healthy outcomes.
Jeanne Jordan - One of the best experts on this subject based on the ideXlab platform.
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identification of human parvovirus b19 infection in idiopathic nonimmune Hydrops fetalis
American Journal of Obstetrics and Gynecology, 1996Co-Authors: Jeanne JordanAbstract:Abstract OBJECTIVE: This retrospective study was designed to determine the incidence of B19 associated with idiopathic nonimmune Hydrops fetalis by use of a sensitive molecular tool, the polymerase chain reaction assay. STUDY DESIGN: Placental and fetal tissues from 57 cases of nonimmune Hydrops fetalis were analyzed for B19 deoxyribonucleic acid. Thirty-four of these cases were classified as idiopathic. The remaining 23 cases had known, noninfectious-based causes. RESULTS: Eighteen percent of all cases (6/34) of idiopathic nonimmune Hydrops fetalis contained B19 deoxyribonucleic acid. In contrast, none of the 23 cases of known, noninfectious-based nonimmune Hydrops fetalis examined contained any B19 deoxyribonucleic acid. Presence of the virus was confirmed in each of the six cases by either B19-specific deoxyribonucleic acid in situ hybridization or immunocytochemistry. However, histologic examination was unsuccessful at detecting characteristic viral-like inclusions in one third of the cases. CONCLUSION: Eighteen percent of cases of idiopathic nonimmune Hydrops fetalis contained B19 deoxyribonucleic acid. This significant finding demonstrates the usefulness of polymerase chain reaction to aid in the differential diagnosis of this disease. (A M J O BSTET G YNECOL 1996;174:37-42.)
Andrea L. Randenberg - One of the best experts on this subject based on the ideXlab platform.
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Nonimmune Hydrops fetalis part I: etiology and pathophysiology.
Neonatal network : NN, 2020Co-Authors: Andrea L. RandenbergAbstract:Nonimmune Hydrops fetalis (NIHF) is a condition in which excess fluid has accumulated in the fetal interstitial spaces as a result of one or more nonimmune factors. A plethora of maternal, placental, and fetal disease processes have been associated with NIHF. Knowledge of the various etiologies of NIHF and how the disease process affects fluid homeostasis is important for planning patient care and counseling families of patients diagnosed with nonimmune Hydrops fetalis. This article discusses the mechanisms governing fluid distribution in the extracellular spaces, examines the various etiologies associated with NIHF, and describes the pathogenesis of NIHF for each etiologic category.
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nonimmune Hydrops fetalis part ii does etiology influence mortality
Neonatal network : NN, 2010Co-Authors: Andrea L. RandenbergAbstract:: Hydrops fetalis is a condition in which there is an excess of total body fluid, primarily within the fetal interstitial spaces. Etymologically, Hydrops fetalis is a Latin term meaning "edema of the fetus." In addition to generalized edema, the fetus has at least one of the following: ascites, pericardial effusion, pleural effusion(s), and an abnormally thick (>6 cm) placenta. Hydrops is classified as nonimmune Hydrops fetalis (NIHF) when it occurs without evidence of isoimmunization.
