2) Prenatal diagnosis expirience of Hunter Disease in Argentina

SGANZETTA NORMA; CECI R; MASLLORENS F; ROZENFELD PA

Congreso; ICIEM 2017; 2017

Mucopolysaccharidosis type II (MPS II, Hunter syndrome, OMIM 309900) is an X-linked recessive lysosomal storage disease resulting from a deficiency of iduronte-2-sulphate sulphatase (IDS).Prenatal diagnosis of the Hunter syndrome is preferably achieved in uncultured chorionic villi (CV) as this allows early, rapid and reliable results. The objective of this study is to report the prenatal diagnosis tests carried out in Argentina for Hunter disease.