Preventive screening for the fragile X syndrome

Abstract

In an Australian population of 1.2 million, we screened 1977 intellectually handicapped persons, who were identified through the public schools and sheltered workshops, for the X-linked semidominant fragile X syndrome. We excluded 527 because they had another known diagnosis. The remaining 1450 were offered chromosomal analysis. Of the 1117 who consented (77 percent), an additional 196 were excluded, and among the 921 who were tested cytogenetically, 40 probands were found. Prevalence rates for persons with an intellectual handicap and the fragile X syndrome in the public school population were 1:2610 for males and 1:4221 for females. Family studies identified 84 women who were either obligate carriers or at high risk of being carriers, who were under the age of 35 and had no children. These women were given genetic counseling, and the availability of antenatal diagnosis was explained to them. If each of these 84 women had two children, 27 of their sons would have an intellectual handicap. We recommend cytogenetic screening for the fragile X syndrome in all currently identified intellectually handicapped people, followed by routine screening of children newly identified as intellectually handicapped in the school system.