First‐trimester prenatal diagnosis of Sanfilippo C disease

Abstract

At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl‐CoA: α‐glucosaminide N‐acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow‐up study on fetal fibroblasts confirmed the diagnosis.

Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay

“…The activity of N-acetyltransferase in CV is higher (1.5 times) than it is in skin fibroblasts; the level in cultured CV cells and amniocytes is some-what lower (0.5 times). A deficiency of N-acetyltransferase activity in the CV of an affected fetus has been reported (Di Natale et al, 1987) and a similar result would be expected for amniotic fluid cells. Indeed, we have shown a complete N-acetyltransferase deficiency in the amniotic fluid cells from a pregnancy in which MPS I11 had already been indicated by the results of electrophoresis of glycosaminoglycans in the fluid.…”

“…Prenatal diagnosis of MPS I11 C using the radiochemical enzyme assay on chorionic villi has been reported in one case (Di Natale et al, 1987). Here we describe the use of the fluorogenic enzyme assay in chorionic villi and amniotic fluid cells.…”

Mucopolysaccharidosis 3

“…1. Assay of acetyl-CoA:α-glucosamine-Nacetyltransferase in amniocytes (Maire et al 1993) and CVS (di Natale et al 1987;He et al 1994) 2. Molecular diagnosis in characterized families 4.…”