Prenatal analyses in a pregnancy at risk for beta-mannosidosis.
Prenatal analyses were performed in the pregnancy of the mother of a patient with beta-mannosidase deficiency. Partial deficiency of beta-mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first-trimester diagnosis was subsequently confirmed by amniocentesis.
Kleijer
W J
WJ
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Geilen
G C
GC
Van Diggelen
O P
OP
Wevers
R A
RA
Los
F J
FJ
D000649:Amniocentesis; D002824:Chorionic Villi / Q000201:enzymology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008361:Mannosidases / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology; D044902:beta-Mannosidase
D008361:Mannosidases; D044902:beta-Mannosidase