First-trimester prenatal diagnosis of Sanfilippo C disease |
| |
| Authors: | P. di Natale N. Pannone G. D'Argenio R. Gattit R. Ricci C. Lombardo |
| |
| Affiliation: | 1. Istituto di Biochimica Cellulare e Molecolare, II Medical School, University of Naples, Italy;2. Third department of Pediatrics. Istituto G. Gaslini, Genova, Italy |
| |
| 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. |
| |
| Keywords: | Sanfilippo C syndrome Mucopolysaccharidosis III C Chorionic vilii Prenatal diagnosis |
|
