Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy.
Nine pregnancies at risk for various metabolic disorders were monitored by prenatal diagnosis on chorionic villi obtained between the sixth and ninth weeks of pregnancy. A diagnosis of an affected fetus was made in five cases (Sandhoff, Tay-Sachs (2), Pompe's, GM1), while metachromatic leukodystrophy, GM1 (2), and Pompe's were excluded in four cases. It is concluded that chorionic villi are a reliable tissue for prenatal diagnosis of metabolic disorders also when obtained before the ninth week.
Biologia Generale e Genetica Medica, Università, Pavia, Italy.
A
A
Minelli
M
M
Piantanida
G
G
Simoni
F
F
Rossella
L
L
Romitti
B
B
Brambati
C
C
Danesino
D002553:Cerebroside-Sulfatase / Q000032:analysis; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000201:enzymology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D000520:alpha-Glucosidases / Q000032:analysis; D001616:beta-Galactosidase / Q000032:analysis; D001619:beta-N-Acetylhexosaminidases / Q000032:analysis
D002553:Cerebroside-Sulfatase; D000520:alpha-Glucosidases; D001616:beta-Galactosidase; D001619:beta-N-Acetylhexosaminidases