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Prenatal testing for Huntington's disease: a European collaborative study.

Sheila A Simpson1, Moniek W Zoeteweij, Kurt Nys

  • 1Clinical Genetics: ForesterHill, Aberdeen, UK. s.a.simpson@abdn.ac.uk

European Journal of Human Genetics : EJHG
|October 31, 2002
PubMed
Summary

Prenatal testing for Huntington's disease (HD) in Europe between 1993-1998 involved 305 cases. Most tests used mutation analysis, with nearly half of prospective parents being asymptomatic gene carriers.

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Area of Science:

  • Genetics
  • Neurology
  • Medical Diagnostics

Background:

  • Huntington's disease (HD) is a progressive neurodegenerative disorder.
  • Prenatal diagnosis is crucial for families with a history of HD.
  • European genetic centers collaborated to assess prenatal testing practices.

Purpose of the Study:

  • To gather data on prenatal testing for Huntington's disease (HD) across six European countries.
  • To analyze the characteristics of individuals undergoing prenatal testing for HD.
  • To evaluate the methods used for HD prenatal diagnosis.

Main Methods:

  • A retrospective study was conducted across seven genetic centers in six European countries (1993-1998).
  • Data collected included parent demographics, HD risk, pregnancy history, and testing outcomes.

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  • Prenatal testing methods included direct mutation analysis and exclusion testing.

    • Main Results:

    • 305 prenatal test results for HD were recorded between 1993 and 1998.
    • The United Kingdom (157) and the Netherlands (90) contributed the most cases.
    • The mean age of parents from HD families was 30.8 years; 50% were asymptomatic carriers, 42% at risk, and 6% symptomatic.

    Conclusions:

    • Mutation analysis was the predominant method (65%) for prenatal HD testing.
    • The study provides insights into European prenatal testing trends for Huntington's disease during the late 1990s.