Hunter syndrome: prenatal diagnosis in maternal serum.
Iduronate sulfate sulfatase (ISS), the deficient hydrolase in Hunter syndrome, consistently increases in the serum of pregnant women, reaching a three- to fourfold increase from pre-pregnancy levels toward the end of pregnancy. In Hunter carriers, a correlation occurs between the status of the fetus with regard to Hunter syndrome and the ISS increase in maternal serum. Thus, in pregnancies with Hunter-affected fetuses, enzyme levels did not change in the serum of heterozygous mothers until abortion was performed, while in nonaffected fetuses, ISS increased usually very early in pregnancy--as early as the 6th-12th week. In heterozygote female fetuses, this increase might be delayed. These data imply that a prenatal diagnosis of Hunter syndrome might be accomplished in maternal serum at early conventional procedures for the prenatal diagnosis of Hunter syndrome.
Zlotogora
J
J
Bach
G
G
D002848:Chromatography, DEAE-Cellulose; D004796:Clinical Enzyme Tests; D005260:Female; D006579:Heterozygote; D006801:Humans; D007066:Iduronate Sulfatase / Q000097:blood*; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013429:Sulfatases / Q000097:blood*
D013429:Sulfatases; D007066:Iduronate Sulfatase