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How is fragile X syndrome diagnosed?
Fragile X syndrome is diagnosed with a blood test. The blood sample is sent to a laboratory where the sample is analyzed to see if the gene abnormality is present. This test is available at most major medical centers. A health care provider, genetic counselor or the National Fragile X Syndrome Foundation can refer a family for testing.
Can fragile X syndrome be diagnosed before birth?
Prenatal tests (amniocentesis and chorionic villus sampling) can determine whether the baby of a carrier mother has inherited the full mutation or a pre-mutation. However, it's important to remember that individuals with the full mutation, particularly females, do not always have mental retardation.
When is fragile X testing recommended?
A health care provider may recommend that a child be tested20for fragile X syndrome (1, 2):
- If the child has mental retardation, developmental delay or autism
- Especially if the child has physical or behavioral characteristics of fragile X syndrome
- If there is a family history of fragile X syndrome or mental retardation of unknown cause
A provider recommends testing if a woman who is planning pregnancy has a family history of fragile X syndrome or mental retardation or if she shows possible symptoms of fragile X syndrome. Testing also is recommended for women with reproductive or fertility problems that could be related to early ovarian failure, and for men and women with tremor, especially if they have a family=2 0history of fragile X syndrome or mental retardation.
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