Prenatal diagnosis of Hunter syndrome using fetal plasma.
The X-linked Hunter syndrome or mucopolysaccharidosis II was diagnosed in a male fetus by demonstrating a severe deficiency of iduronate 2-sulphate sulphatase activity in fetal plasma obtained by umbilical fetal blood sampling at 23 weeks of pregnancy. The diagnosis was confirmed after termination of pregnancy.
D005260:Female; D005312:Fetal Blood / Q000201:enzymology*; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007066:Iduronate Sulfatase / Q000032:analysis; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D007066:Iduronate Sulfatase