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

    Research output: Contribution to journalArticle

    37 Citations (Scopus)

    Abstract

    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.
    Volume10
    Issue number11
    DOIs
    Publication statusPublished - 2002

    Keywords

    • Huntington's disease
    • prenatal testing
    • demographic variables
    • PREIMPLANTATION GENETIC DIAGNOSIS
    • RISK
    • ATTITUDES
    • EXPERIENCE

    Cite this

    Prenatal testing for Huntington's disease: a European collaborative study. / Simpson, S.a.; Zoeteweij, M. W.; Nys, K.; Harper, P.; Durr, A.; Jacopini, G.; Yapijakis, C.; Evers-Kiebooms, G.

    In: EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , Vol. 10, No. 11, 2002, p. 689-693.

    Research output: Contribution to journalArticle

    Simpson, S.a. ; Zoeteweij, M. W. ; Nys, K. ; Harper, P. ; Durr, A. ; Jacopini, G. ; Yapijakis, C. ; Evers-Kiebooms, G. / Prenatal testing for Huntington's disease: a European collaborative study. In: EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. . 2002 ; Vol. 10, No. 11. pp. 689-693.
    @article{29e0f16273694f2abde8167e5e275ccc,
    title = "Prenatal testing for Huntington's disease: a European collaborative study",
    abstract = "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.",
    keywords = "Huntington's disease, prenatal testing, demographic variables, PREIMPLANTATION GENETIC DIAGNOSIS, RISK, ATTITUDES, EXPERIENCE",
    author = "S.a. Simpson and Zoeteweij, {M. W.} and K. Nys and P. Harper and A. Durr and G. Jacopini and C. Yapijakis and G. Evers-Kiebooms",
    year = "2002",
    doi = "10.1038/sj.ejhg.5200871",
    language = "English",
    volume = "10",
    pages = "689--693",
    journal = "EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.",
    issn = "1018-4813",
    publisher = "Nature Publishing Group",
    number = "11",

    }

    TY - JOUR

    T1 - Prenatal testing for Huntington's disease: a European collaborative study

    AU - Simpson, S.a.

    AU - Zoeteweij, M. W.

    AU - Nys, K.

    AU - Harper, P.

    AU - Durr, A.

    AU - Jacopini, G.

    AU - Yapijakis, C.

    AU - Evers-Kiebooms, G.

    PY - 2002

    Y1 - 2002

    N2 - 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.

    AB - 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.

    KW - Huntington's disease

    KW - prenatal testing

    KW - demographic variables

    KW - PREIMPLANTATION GENETIC DIAGNOSIS

    KW - RISK

    KW - ATTITUDES

    KW - EXPERIENCE

    U2 - 10.1038/sj.ejhg.5200871

    DO - 10.1038/sj.ejhg.5200871

    M3 - Article

    VL - 10

    SP - 689

    EP - 693

    JO - EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.

    JF - EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.

    SN - 1018-4813

    IS - 11

    ER -