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Prenatal diagnosis for Huntington's disease: a molecular and psychological study
A Spurdle1, J Kromberg, J Rosendorff
1Department of Human Genetics, School of Pathology, Johannesburg, South Africa.
Prenatal Diagnosis
|March 1, 1991
Summary
Prenatal diagnosis for Huntington's disease used linked probes, finding the fetus unaffected with 97% certainty. This avoided presymptomatic testing ethical issues but raised others regarding pregnancy decisions for affected women.
Area of Science:
- Genetics
- Neurology
- Reproductive Medicine
Background:
- Huntington's disease (HD) is an inherited neurodegenerative disorder.
- Genetic testing for HD can inform reproductive decisions.
- Prenatal diagnosis offers options for affected pregnancies.
Observation:
- A pregnant woman with Huntington's disease underwent fetal genetic testing.
- Linked probes were utilized for fetal HD status determination.
- The mother presented with initial symptoms of Huntington's disease.
Findings:
- The fetus was determined to be unaffected by Huntington's disease.
- The diagnostic certainty achieved was 97 percent.
- Presymptomatic testing ethical concerns were circumvented due to maternal symptom onset.
Implications:
- The study highlights psychological and ethical issues in prenatal diagnosis for HD.
- It explores the dilemmas faced by affected women planning pregnancy.
- Decision-making regarding selective abortion in HD-affected pregnancies is examined.