Table 3.
Who Should Be Offered Screening? | |
---|---|
Any patient with a personal or family history of … | • Fragile X or fragile X-related disorders |
• Unexplained mental retardation or developmental delay | |
• Autism | |
• Ovarian insufficiency or elevated FSH at age < 40 years of unknown cause | |
Men with… | • Isolated cerebellar ataxia with tremor |
• Isolated cognitive impairment | |
Any woman who requests fragile X carrier screening regardless of history |
ACMG, American College of Medical Genetics; ACOG, American Congress of Obstetricians and Gynecologists;
FSH, follicle-stimulating hormone