Related Experiment Videos
First-trimester diagnosis of metachromatic leucodystrophy
A H Fensom1, J Marsh, M Jackson
1Paediatric Research Unit, United Medical and Dental Schools, Guy's Hospital, London, UK.
Clinical Genetics
|August 1, 1988
Summary
Early diagnosis of metachromatic leucodystrophy is possible using a simple arylsulphatase A assay on chorionic villi. This method offers reliable first-trimester detection, unlike the standard assay which may lead to misdiagnosis.
Area of Science:
- Medical Genetics
- Biochemical Diagnostics
- Prenatal Screening
Background:
- Metachromatic leucodystrophy (MLD) is a rare genetic disorder affecting the nervous system.
- Accurate and timely diagnosis is crucial for at-risk pregnancies.
- Current diagnostic methods may have limitations in early pregnancy stages.
Observation:
- Chorionic villi samples from two high-risk pregnancies were analyzed.
- Arylsulphatase A activity was measured at 0°C in villus homogenates.
- Comparison was made with standard 37°C assays.
Findings:
- A low arylsulphatase A activity at 0°C correctly identified a fetus affected with MLD.
- Confirmation was achieved through assays on cultured villi and fetal fibroblasts.
- A second pregnancy showed normal arylsulphatase A activity, and is continuing.
Implications:
- The 0°C assay provides a reliable method for first-trimester MLD diagnosis.
- This technique can aid in crucial reproductive decision-making for affected families.
- Standard 37°C assays may pose a risk of misdiagnosis in early pregnancy.