Intrauterine Diagnosis: Comparative Enzymology of Fibroblasts Cultivated From Maternal Skin, Fetal Skin, and Amniotic Fluid Cells

摘要

We have compared the specific activities of several lysozomal enzymes in skin fibroblasts cultures from 7 normal women (MAT), their fetuses (FET), and fibroblasts developed form corresponding amniotic fluid cells (AMN). All samples were obtained between the 17th–21st week of pregnancy. Highly significant differences in the mean specific activities of β-galactosidase, β-D-N-acetylglucosaminidase, and arylsulfatase. A are evident between fibroblasts developed from each of these sources. In addition, the pattern of differences in the 3 fibroblast types is dissimilar for each enzyme:β-galactosidase: AMN > MAT > FETβ-D-N-acetylglucosaminidase: AMN = MAT > FETArylsufatase A: MAT > AMN > FETBoth the pattern and relative differences in enzyme specific activites are consistent in each of the 7 groups of cultures studied. If quantitative enzymologic data from cultured amniotic fluid cells is to be used for the antenatal diagnosis of specific inherited genetic disorders, it is essential that relative specific activities of the enzymes in question be established in fibroblasts developed from each of the pertinent cell types. These relationships are also critical if hererozygous fetuses are to be correctly identified in utero and if fetal tissue is to be used to corroborate intrauterine diagnoses based on amniotic cell analysis.