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Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases
Insights
Prenatal diagnosis identified six fetuses with sphingolipid or mucopolysaccharide storage diseases. Affected fetuses lacked specific enzyme activity, but placental tissue showed partial enzyme levels.
Area of Science:
- Medical Genetics
- Biochemistry
- Prenatal Diagnosis
Background:
- Sphingolipid and mucopolysaccharide storage diseases are inherited metabolic disorders.
- Early diagnosis is crucial for managing these severe conditions.
Purpose of the Study:
- To evaluate the feasibility of prenatal diagnosis for sphingolipid and mucopolysaccharide storage diseases.
- To assess enzyme activity in fetal cells and placental tissue.
Main Methods:
- Amniocentesis was performed at 16 weeks' gestation.
- Amniotic fluid cells were cultured and analyzed for specific enzyme deficiencies.
- Affected fetuses were examined morphologically and biochemically post-abortion.
Main Results:
- Out of 24 at-risk fetuses, six were diagnosed with storage diseases.
- Diagnoses included Tay-Sachs disease (2), GM1 gangliosidosis (2), and Hurler's syndrome (1).
- Affected fetuses showed absent specific enzyme activity, while placentas retained 5-50% of normal activity.
Conclusions:
- Prenatal diagnosis is effective for identifying fetuses with sphingolipid and mucopolysaccharide storage diseases.
- Placental enzyme activity does not accurately reflect fetal enzyme status in these conditions.
Abstract:
In 4 years of 24 fetuses at risk for various sphingolipid and mucopolysaccharide storage diseases were examined. Amniocentesis at 16 weeks' gestation was followed in most cases by culture of amniotic fluid cells and measurement in the cells of the activity of the enzyme suspected to be deficient. Six fetuses were affected; five were examined morphologically and biochemically after abortion. Two fetuses had Tay-Sachs disease, two had GM1 gangliosidosis and one had Hurler's syndrome. Although in each affected detus the specific enzyme activity was absent, we found in the placenta 5 to 50% of the normal activity.