Informed choice in fragile X syndrome and its effects on prevalence.
We present the effect of case finding, cascade testing, and counselling for fragile X syndrome in a population of 6.5 million over a decade. Carrier females made informed choices that resulted in a 10-fold decrease in the prevalence of affected males in their offspring.
Robinson
H
H
Fragile X Program, Prince of Wales Children's Hospital, Sydney, New South Wales, Australia.
Wake
S
S
Wright
F
F
Laing
S
S
Turner
G
G
D002755:Choice Behavior; D005193:Family Planning Services; D005600:Fragile X Syndrome / Q000453:epidemiology* / Q000517:prevention & control; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D015995:Prevalence