1. Amniotic fluid GAG-electrophoresis*, lysosomal enzymes elevated in ML II
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1.Postnatal autopsy should be discussed in every individual fetus
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1. Placental tissue for histological analysis. Culture of this tissue is also possible (cell lines often show early senescence)
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-Babygram
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If possible elctronmicroscopy for abnormal lysosomal shingolipid storage- NPC)
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-Photo-documentation
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2. Amnion cells/Chorionic villi: enzyme measurements of ß-Glucocerebrosidase (Gaucher disease), N-Acetyl-Glukosamin-6-Sulfatsulfatase (MPS IVA), ß-Glucoronidase (MPS VII), Neuraminidase and ß-Galactosidase (Galactosialidosis, GM1 Gangliosidosis and Sialidosis). Ceramidase (Farber disease), Acid lipase (Wolman disease), Sphingomyelinase (NPA)
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2. Urine for oligosaccharides and GAG-electrophoresis
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2. Skin biopsy: DNA isolation for genetics and cultivated cells for biochemical tests (enzyme analysis)
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3. Screening test in Plasma/Serum: I-cell screen**, chitotriosidase
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4. Blood smear: vacuolated granulocytes and Adler granulation (GM1-gangliosidosis, Galactosialidosis, Sialidosis, ISSD, MPS VII)
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If possible electronmicroscopy
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3. Tissue sample (unfixed) e.g. liver, spleen, heart, and muscle for histopathological and histochemical examinations.
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5: Considering bone marrow aspiration to look for foam cells, Gaucher cells and other storage histiocytes)
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4. Placental tissue for histological analysis. Culture of this tissue is also possible (cell lines often show early senescence)
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6. Skeletal-radiography: dysostosis multiplex, pathological fractures (ML II)
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If possible elctronmicroscopy for abnormal lysosomal shingolipid storage- NPC)
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Diagnosis
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5. Fetal urine (if available) for Glycosaminoglycans or Oligosaccharides
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3. Genetic analysis: amnion cells or chorion villi cells
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7. Skin biopsy: (best with eccrine glands) DNA isolation for genetics and cultivated cells for biochemical tests (enzyme analysis), Filipin test*** for NPC, abnormal lysosomal free sialic acid storage (ISSD)
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If possible electronmicroscopy
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8. Leucocytes and plasma (also possible in fibroblasts): measuring lysosomal enzymes of ß-Glucocerebrosidase (Gaucher), N-Acetyl-Glukosamin-6-Sulfatsulfatase (MPS IVA), ß-Glucoronidase (MPS VII), Neuraminidase and ß-Galactosidase (Galactosialidosis, GM1 Gangliosidosis and Sialidosis) Ceramidase (Farber disease). Acid lipase (Wolman disease), Sphingomyelinase (NPA).
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9. EDTA-blood for DNA isolation
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