[Prenatal diagnosis of genetic diseases using chorionic villi].
Chorionic villi biopsy allows first trimester prenatal diagnosis of some genetic diseases. In this study the results of 163 diagnoses are presented, and among these, 59 diagnoses of autosomal recessive metabolic diseases with 8 observations of congenital adrenal hyperplasia due to 21 OH deficiency and 6 observations of Fanconi anemia.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis; D001706:Biopsy; D002823:Chorion / Q000473:pathology*; D005199:Fanconi Anemia / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
Diagnostic prénatal des maladies géniques sur villosités choriales.