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Prenatal diagnosis of mucopolysaccharidosis by two‐dimensional electrophoresis of amniotic fluid glycosaminoglycans
Author(s) -
Mossman Jean,
Patrick A. D.
Publication year - 1982
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.1970020305
Subject(s) - amniotic fluid , glycosaminoglycan , mucopolysaccharidosis , prenatal diagnosis , fetus , medicine , pregnancy , obstetrics , mucopolysaccharidosis i , amnion , andrology , pathology , biology , anatomy , genetics , enzyme replacement therapy , disease
Amniotic fluid from 72 pregnancies at risk for mucopolysaccharidosis have been analysed for glycosaminoglycans (GAG) by means of two‐dimensional electrophoresis. Definite results were obtained in all cases and required only 3 days to report. Of the 66 cases for which GAG analysis was accompanied by enzyme assays on cultured amniotic fluid cells, there was agreement of results in 65. In the one case of disagreement the result of GAG analysis proved to be correct. Fourteen pregnancies were predicted to be affected and the predictions were confirmed by studies on fetal tissues and/or cultured cells, or in one case the birth of an affected infant. Of the 58 pregnancies predicted to be unaffected, 48 have so far gone to term and produced healthy infants. There have been no false negative predictions. The analytical method is simple, rapid, and, in this study, has been found completely reliable for prenatal diagnosis.