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

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