title: Informed choice in fragile X syndrome and its effects on prevalence.
abstract: 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.
authors.affiliation: Fragile X Program, Prince of Wales Children's Hospital, Sydney, New South Wales, Australia.
authors.forename: H
authors.initials: H
authors.lastname: Robinson
authors.forename: S
authors.initials: S
authors.lastname: Wake
authors.forename: F
authors.initials: F
authors.lastname: Wright
authors.forename: S
authors.initials: S
authors.lastname: Laing
authors.forename: G
authors.initials: G
authors.lastname: Turner
mesh_terms: 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