[Prenatal diagnosis of inborn errors of metabolism. 155 cases (author's transl)].
The authors' experience of 155 prenatal diagnoses of inborn errors of metabolism shows that such diagnoses cannot be made without an extensive network of laboratories specialized in cell biology and biochemistry. The enzymatic deficiency must also be clearly established in each family at risk, and the value of enzymatic assay techniques must be demonstrated on cultures of skin fibroblasts and amniotic fluid cells. In this series, 126 diagnoses of 25 different autosomal recessive metabolic diseases were made; 23 foetuses were affected. Twenty-nine diagnoses concerned 5 types of X-linked metabolic diseases; since non-obligatory carrier women also had a prenatal diagnosis, the diseases were detected in only 5 foetuses.
D002478:Cells, Cultured; D004798:Enzymes / Q000172:deficiency; D005260:Female; D005333:Fetus / Q000166:cytology; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004798:Enzymes
Diagnostic prénatal de maladies héréditaires du métabolisme 155 observations.