Prenatal diagnosis of inborn errors of metabolism with renal manifestations.
Prenatal diagnosis has become increasingly important for the prevention of kidney disease due to inborn errors of metabolism. The indications for prenatal diagnosis in a specific disease depend on the degree of renal involvement and the concomitant pathology of other organs, but especially of the central nervous system. The availability of successful postnatal therapy reduces the necessity for prenatal diagnosis. The determination of enzyme activities, the demonstration of storage products in fetal tissues and the analysis of amniotic fluid components are the biochemical methods most frequently used for prenatal detection. Recently, recombinant DNA techniques have enlarged the spectrum of inherited disorders that can be diagnosed before birth.
Harms
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Kinderklinik der Technischen Universität, München, Federal Republic of Germany.
D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000209:etiology; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis