[Prenatal diagnosis of mannosidosis using chorion villi].
The prenatal diagnosis of mannosidosis was carried out in one at-risk fetus by the analysis of chorionic villi obtained after 9 weeks of pregnancy. The diagnosis was based on the absence of acid alpha-mannosidase activity as determined by specific enzyme assay. The activity of two other lysosomal hydrolases (beta-galactosidase and beta-hexosaminidase) in chorion biopsy specimen was similar to the control values. The enzymatic diagnosis was confirmed after studies of fetal tissue.
D002824:Chorionic Villi / Q000201:enzymology*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008361:Mannosidases / Q000032:analysis; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D043323:alpha-Mannosidase; D008363:alpha-Mannosidosis / Q000175:diagnosis*; D001616:beta-Galactosidase / Q000032:analysis; D001619:beta-N-Acetylhexosaminidases / Q000032:analysis
D008361:Mannosidases; D001616:beta-Galactosidase; D043323:alpha-Mannosidase; D001619:beta-N-Acetylhexosaminidases
Prenatal'nyĭ diagnoz mannozidoza s ispol'zovaniem vorsin khoriona.