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Prenatal diagnosis of Hunter syndrome using fetal plasma

1988; Wiley; Volume: 8; Issue: 1 Linguagem: Inglês

10.1002/pd.1970080108

1097-0223

Willy Lissens, M Van Lierde, J. Decaluwe, Walter Foulon, Philippe Evrard, F. Van Hoof, M. Freund, I. Liebaers,

Neurogenetic and Muscular Disorders Research

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.