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

S.a. Simpson, M. W. Zoeteweij, K. Nys, P. Harper, A. Durr, G. Jacopini, C. Yapijakis, G. Evers-Kiebooms

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    41 Citations (Scopus)


    This European study involving seven genetic centres from six countries - Aberdeen, Cardiff (UK), Leiden (Netherlands), Leuven (Belgium), Paris (France), Rome (Italy), Athens (Greece) has gathered information on prenatal testing by direct mutation analysis and exclusion testing for Huntington's disease (HD) from the six European countries during the period 1993-1998. Data describing the parent belonging to the HD family was collected; this included their sex and age as well as their risk of developing HD. Information about previous pregnancies, the rank of the pregnancy being tested and its outcome was also gathered. In addition the number of previous prenatal tests for HD was recorded. Three hundred and five results were recorded by the participating countries between 1993 and 1998. The largest groups came from the UK (157) and the Netherlands (90). The mean age for the parent from the HD family was 30.8 years. In half of the tests the prospective parent was an asymptomatic gene carrier, 42% remained at risk, and 6% of the prospective parents were already showing clinical features of HD. 65% of tests performed used mutation analysis.

    Original languageEnglish
    Pages (from-to)689-693
    Number of pages4
    JournalEJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.
    Issue number11
    Publication statusPublished - 2002


    • Huntington's disease
    • prenatal testing
    • demographic variables
    • RISK


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