Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prenatal diagnosis of inherited diseases has hitherto been obtained mainly by cytogenetic or biochemical analysis of cultured amnion cells. Xeroderma pigmentosum, Fabry's disease and x-linked ichthyosis can be diagnosed in this way. Recently, techniques for taking fetal blood or skin samples by fetoscopy in the 16th to 20th week of gestation have been developed. Epidermolysis bullosa lethalis and ichthyotic erythroderma have thus been diagnosed on fetal skin samples.
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PMID:Prenatal diagnosis of skin disorders. 695 17

The assumption of an irreparable damage of the fetus can result from prenatal examination or from the known mode of inheritance of a genodermatosis. Xeroderma pigmentosum, sex-linked ichthyosis vulgaris and - provided an appropriate test wil be developed - Fabry's disease are absolute indications for interruption after prenatal examination. Neurofibromatosis, Gorlin's syndrome, systematized elastorrhexis and Mal de Meleda are relative indications when the genodermatosis is feared to deteriorate the mother's health. Bourneville's disease, neurofibromatosis, Gorlin's syndrome, the dominant forms of systematized elastorrhexis and Mal de Meleda are relative indications as to the risk to give birth to a sick child.
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PMID:[Genodermatoses as an indication for the interruption of pregnancy]. 739 28

Prenatal examination is indicated when there is a risk of hereditary disease causing alterations in the amnion cells, the amnion fluid, in the blood or the morphology of the fetus. Routine screening is performed in four groups: suspected chromosomalaberration, x-chromosomal heredopathy, metabolic defect or neural tube defect. Dermatologists have special interest in the second and third groups (Fabry disease, Xeroderma pigmentosum and recently Ichthyosis vulgaris). An interruption was proposed in 2,9% of all examinations performed up to now. On the other hand, most of pregnant women whose child was prenatally diagnosed to be healthy, had planned their pregnancy only with respect to the possibility of prenatal examination.
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PMID:[Interruption of pregnancy based on prenatal diagnosis]. 739 30