Related Experiment Videos
Multiple sulphatase deficiency: prenatal diagnosis using chorionic villi.
A D Patrick1, E Young, C Ellis
1Institute of Child Health, London, U.K.
Prenatal Diagnosis
|May 1, 1988
Summary
Prenatal diagnosis of multiple sulphatase deficiency is possible in early pregnancy. Testing chorionic villi (CV) for reduced enzyme activity accurately identified affected pregnancies, enabling informed reproductive choices.
Area of Science:
- Medical Genetics
- Biochemistry
- Prenatal Diagnosis
Background:
- Multiple sulphatase deficiency (MSD) is a rare, severe lysosomal storage disorder.
- MSD results from mutations in the SUMF1 gene, affecting multiple sulfatase enzymes.
- Early diagnosis is crucial for genetic counseling and reproductive decision-making.