Jl. Tolmie et al., THE PRENATAL EXCLUSION TEST FOR HUNTINGTONS-DISEASE - EXPERIENCE IN THE WEST OF SCOTLAND, 1986-1993, Journal of Medical Genetics, 32(2), 1995, pp. 97-101
Information about the prenatal exclusion test for Huntington's disease
(HD) has been given to an unselected series of couples who attended t
he genetic counselling clinic from 1986 onwards. Ten couples underwent
13 prenatal tests during this period with expressed intention of stop
ping 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 car
rying the HD gene were identified but only six such pregnancies were t
erminated. In each of three high risk pregnancies which continued, the
mother made a ''final hour'' decision not to undergo the scheduled, f
irst trimester termination. In our experience, late reversal of a prev
ious decision to undergo first trimester pregnancy termination for a g
enetic indication is uniquely frequent among couples who have undergon
e the prenatal exclusion test for HD.