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The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993.
  1. J L Tolmie,
  2. H R Davidson,
  3. H M May,
  4. K McIntosh,
  5. J S Paterson,
  6. B Smith
  1. Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.


    Information about the prenatal exclusion test for Huntington's disease (HD) has been given to an unselected series of couples who attended the genetic counselling clinic from 1986 onwards. Ten couples underwent 13 prenatal tests during this period with expressed intention of stopping a pregnancy if the result indicated a high risk (almost 50%) that the fetus carried the HD gene. Nine fetuses at nearly 50% risk of carrying the HD gene were identified but only six such pregnancies were terminated. In each of three high risk pregnancies which continued, the mother made a "final hour" decision not to undergo the scheduled, first trimester termination. In our experience, late reversal of a previous decision to undergo first trimester pregnancy termination for a genetic indication is uniquely frequent among couples who have undergone the prenatal exclusion test for HD.

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