Prenatal diagnosis of lysosomal storage diseases

Abstract

Over the past eight years, 145 patients from Australia and New Zealand were referred to the Department of Chemical Pathology, The Adelaide Children's Hospital, for the prenatal assessment of a variety of lysosomal storage diseases. This group comprised 65 patients at risk for a glycosphingolipidosis, 50 for a mucopolysaccharidosis, five for mucolipidosis, 15 for glycogen storage disease, and 10 for cystinosis. In three cases, amniotic cells failed to establish in culture; in one of these cases, cell-free amniotic fluid was used to make the prenatal diagnosis; the fetus spontaneously aborted in another; only in one case could the prenatal assessment not be completed. Of the 143 cases of successful assessment, 40 fetuses (28%) were predicted to be homozygous affected by the disease for which they were at risk, and 38 pregnancies were subsequently terminated. Follow-up biochemical tests in the affected fetuses and in the newborn children were performed in 82% of cases and confirmed the prenatal assessment to have been correct in all cases. There were no known false positive or false negative diagnoses. It is concluded that the prenatal diagnosis of a range of lysosomal storage diseases can be performed accurately and reliably, provided that cultured amniotic cells are used for enzymatic assay and that a strict protocol, related to each individual prenatal assessment, is followed.