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Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker
Lancet (London, England)
|June 6, 1987
Insights
DNA testing can exclude Huntington's disease (HD) risk in pregnancies for at-risk couples. However, some tests remain uninformative, requiring careful consideration of reproductive choices.
Area of Science:
- Genetics
- Neurology
- Reproductive Medicine
Background:
- Huntington's disease (HD) is an inherited neurodegenerative disorder.
- Genetic testing offers options for couples with a 50% risk due to family history.
Observation:
- A DNA probe linked to HD was used for exclusion testing in pregnancies.
- Fifty-five couples with a 50% risk of HD participated.
Findings:
- In 9 pregnancies, HD was excluded in 3 cases without recombination.
- In 3 pregnancies, the risk remained around 50%.
- In 2 pregnancies, exclusion tests were uninformative.
Implications:
- Prenatal genetic testing can provide crucial information for at-risk families.
- The limitations of exclusion testing, such as uninformative results, need to be addressed.
- Ethical considerations and informed decision-making are paramount in prenatal genetic testing for HD.
Abstract:
55 couples where one partner was at 50% risk of Huntington's disease (HD) were investigated with a DNA probe closely linked to HD, with a view to exclusion testing in a future pregnancy. In 3 of 9 pregnancies so far, HD was excluded in the absence of recombination. In 3 the risk was raised to around 50%, and in 2 exclusion tests were uninformative. The remaining couple changed their minds about termination of the pregnancy and the test was therefore judged inappropriate.