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

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 largestgroups came from 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.