Prenatal diagnosis of Pompe disease by electron microscopy
- First Online:
- Cite this article as:
- Phupong, V., Shuangshoti, S., Sutthiruangwong, P. et al. Arch Gynecol Obstet (2005) 271: 260. doi:10.1007/s00404-004-0620-3
Pompe disease is one of the lysosomal storage disorders caused by α-glucosidase deficiency. The disease is characterized by accumulation of glycogen in the lysosome. The accumulation has unique ultrastructural features, which enable a prenatal diagnosis possible by electron microscopy.
Materials and methods
A prenatal diagnosis of Pompe disease by electron microscopic study of chorionic villus biopsies is described in a fetus of a mother whose previous child had died of the disease.
Electron microscopy revealed fibrocytes with typical vacuoles filled with glycogen. A prenatal diagnosis of Pompe disease was made and subsequently confirmed by the autopsy study of the abortus.
We report the usefulness of electron microscopy for prenatal diagnosis in the first trimester of Pompe disease.