Prenatal exclusion of Pompe disease by electron microscopy
Vorapong Phupong1, Vorasuk Shotelersuk
1Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, Rama IV Road, Pathumwan, Bangkok 10330, Thailand. vorapong.p@chula.ac.th
Abstract:
Pompe disease is a lysosomal storage disorder caused by alpha-glucosidase deficiency. The disease is characterized by accumulation of glycogen in the lysosomes. The accumulation has unique ultrastructural features which enable a prenatal diagnosis by electron microscopy. We describe prenatal electron microscopic testing in a fetus of a mother whose previous child died of Pompe disease. The disease in the affected child was diagnosed by a decrease in alpha-glucosidase activity of his skin fibroblasts. Electron microscopy of the chorionic villus sample and amniocytes revealed normal findings, thus predicting an unaffected fetus. The study was confirmed by the birth of a normal neonate who was still healthy at the age of 12 months. Electron microscopy is useful in the first and second trimesters to exclude Pompe disease prenatally. This test can be use prenatally and provides families with reassurance.
Insights
Prenatal diagnosis of Pompe disease is possible using electron microscopy on chorionic villus samples and amniocytes. This method accurately predicted an unaffected fetus, providing reassurance for at-risk families.
Area of Science:
- Biochemistry
- Genetics
- Medical Diagnostics
Background:
- Pompe disease is a rare genetic disorder caused by a deficiency in the enzyme alpha-glucosidase.
- This deficiency leads to the accumulation of glycogen within lysosomes, impacting cellular function.
- Unique ultrastructural features of glycogen accumulation aid in diagnosis.
Observation:
- A case study involving a fetus at risk for Pompe disease due to a previously affected child.
- Electron microscopy was performed on chorionic villus samples and amniocytes.
- Previous diagnosis in the affected sibling was confirmed by decreased alpha-glucosidase activity in skin fibroblasts.
Findings:
- Electron microscopy of prenatal samples showed normal findings.
- These results predicted an unaffected fetus.
- The prediction was confirmed by the birth of a healthy neonate who remained healthy at 12 months.
Implications:
- Electron microscopy is a valuable tool for prenatal diagnosis of Pompe disease in the first and second trimesters.
- This diagnostic capability can offer reassurance to families with a history of Pompe disease.
- The study highlights the utility of ultrastructural analysis in diagnosing lysosomal storage disorders prenatally.
