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Prenatal diagnosis of Hunter syndrome using fetal plasma
Author(s) -
Lissens W.,
Van Lierde M.,
Decaluwe J.,
Foulon W.,
Evrard P.,
van Hoof F.,
Freund M.,
Liebaers I.
Publication year - 1988
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970080108
Subject(s) - prenatal diagnosis , fetus , medicine , obstetrics , pregnancy , biology , genetics
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.