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Related Experiment Videos

Huntington's disease

D Craufurd1

  • 1Department of Clinical Genetics, St. Mary's Hospital, Manchester, U.K.

Prenatal Diagnosis
|December 1, 1996
PubMed
Summary
This summary is machine-generated.

Huntington's disease (HD) genetic testing is now available, offering predictive and prenatal options for at-risk individuals. However, limited uptake highlights potential psychological and social challenges associated with these tests.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Huntington's disease (HD) is a late-onset, dominantly inherited neurodegenerative disorder.
  • A mutation in a gene on chromosome 4p causes HD, characterized by a trinucleotide repeat expansion.

Purpose of the Study:

  • To outline the implications of identifying the trinucleotide repeat mutation in HD.
  • To discuss the availability and considerations of predictive and prenatal genetic testing for HD.

Main Methods:

  • Identification of the specific trinucleotide repeat mutation responsible for HD.
  • Analysis of the benefits and risks associated with predictive and prenatal testing.

Main Results:

  • The identification of the mutation enables predictive and prenatal diagnostic testing for individuals at high genetic risk.

Related Experiment Videos

  • Uptake of predictive testing has been limited, suggesting potential psychological and social concerns.

    • Conclusions:

    • Predictive testing for HD offers benefits but carries risks of psychological and social issues for families.
    • Prenatal exclusion testing provides an alternative to standard prenatal diagnosis, avoiding disclosure of the at-risk parent's genetic status.