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Prenatal diagnosis of Hunter syndrome using fetal plasma |
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| Authors: | W. Lissens M. Van Lierde J. Decaluwe W. Foulon P. Evrard F. van Hoof M. Freund I. Liebaers |
| Affiliation: | 1. Depanments of Medical Genetics and Obstetrics and Gynecology, Vrije Vniversiteit Brussel, Laarbeeklaan 103 E, 1090 Brussels;2. Departments of Obstetrics, Neuropediatrics and Genetics, Universilé Catholique de Louvain, A venue Hippocrate 10, 1200 Brussels, Belgium |
| 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. |
| Keywords: | Hunter syndrome (MPS II) Iduronate 2-sulphate sulphatase Fetal blood sampling Fetal plasma |