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Prenatal diagnosis of Hunter syndrome using fetal plasma
W Lissens1, M Van Lierde, J Decaluwe
1Department of Medical Genetics, Vrije Universiteit Brussel, Belgium.
Prenatal Diagnosis
|January 1, 1988
Abstract:
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.