[Prenatal diagnosis of hereditary metabolic diseases in 1987].
Prenatal diagnosis currently represents the only preventive method of inherited metabolic disease for which no effective treatment is available. Several fetal samplings are currently possible, which enables to adequately select the best expression of the anomaly. Chorionic villi taken by biopsy constitute the biological material of choice for a diagnosis during the first trimester of pregnancy. An early diagnosis with the marked heterogenous nature of these genetic diseases, requires a perfect cooperation between the various specialists and between specialists and family, in order to secure a prenatal diagnosis.
Poenaru
L
L
Laboratoire de Biochimie Génétique, CHU Cochin, Paris.
D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis
Le diagnostic prénatal des maladies héréditaires du métabolisme en 1987.