Lysosomal storage diseases in non-immune hydrops fetalis pregnancies
Copyright policy )Lysosomal storage diseases in non-immune hydrops fetalis pregnancies
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.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.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.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.
- Radboud University Nijmegen Netherlands
- Radboud University Nijmegen Medical Centre Netherlands
- University of Groningen Netherlands
- Amsterdam UMC Netherlands
- University Medical Center Groningen Netherlands
DCN 1: Perception and Action, mucopolysaccharides in amniotic fluid, Hydrops Fetalis, Sialoglycoproteins, Prenatal diagnosis, Cathepsin A, Oligosaccharides, EBP 2: Effective Hospital Care, inborn errors of metabolism, Gestational Age, Inborn errors of metabolism, UMCN 5.1: Genetic defects of metabolism, Reference values, Pregnancy, Reference Values, Risk Factors, Prenatal Diagnosis, DCN 3: Neuroinformatics, Lysosomal storage diseases, Humans, PRENATAL-DIAGNOSIS, lysosomal storage diseases, UMCN 5.2: Endocrinology and reproduction, Cells, Cultured, Glycosaminoglycans, prenatal diagnosis, IGMD 4: Glycostation disorders, MUTATIONS, reference values, Amniotic Fluid, GENE, Mucopolysaccharides in amniotic fluid, N-Acetylneuraminic Acid, galactosialidosis, DEFICIENCY, SIBLINGS, Lysosomal Storage Diseases, Galactosialidosis, Mutation, NCMLS 4: Energy and redox metabolism, Female, UMCN 3.1: Neuromuscular development and genetic disorders, Lysosomes
DCN 1: Perception and Action, mucopolysaccharides in amniotic fluid, Hydrops Fetalis, Sialoglycoproteins, Prenatal diagnosis, Cathepsin A, Oligosaccharides, EBP 2: Effective Hospital Care, inborn errors of metabolism, Gestational Age, Inborn errors of metabolism, UMCN 5.1: Genetic defects of metabolism, Reference values, Pregnancy, Reference Values, Risk Factors, Prenatal Diagnosis, DCN 3: Neuroinformatics, Lysosomal storage diseases, Humans, PRENATAL-DIAGNOSIS, lysosomal storage diseases, UMCN 5.2: Endocrinology and reproduction, Cells, Cultured, Glycosaminoglycans, prenatal diagnosis, IGMD 4: Glycostation disorders, MUTATIONS, reference values, Amniotic Fluid, GENE, Mucopolysaccharides in amniotic fluid, N-Acetylneuraminic Acid, galactosialidosis, DEFICIENCY, SIBLINGS, Lysosomal Storage Diseases, Galactosialidosis, Mutation, NCMLS 4: Energy and redox metabolism, Female, UMCN 3.1: Neuromuscular development and genetic disorders, Lysosomes
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