Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
Francyne KubaskiAna Carolina Brusius-FacchinRobert W MasonPravin PatelMaira G BurinKristiane Michelin-TirelliRejane Gus KesslerFernanda BenderSandra Leistner-SegalCarolina A MorenoDenise P CavalcantiRoberto GiuglianiShunji TomatsuPublished in: Prenatal diagnosis (2017)
This is the first report of specific GAG analysis in AF from an MPS VII fetus, indicating that GAG elevation in AF occurs by 21 weeks of gestation and could be an additional tool for prenatal diagnosis of MPS VII and potentially other MPS types. © 2017 John Wiley & Sons, Ltd.