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Monday, August 3, 2015

Fragile X Screening In Pregnancy and Other Test Indications


Fragile X syndrome is the leading cause of inherited intellectual disability for any individual. The chances you can pass on Fragile X to your baby doesn't change with advancing age, unlike passing on Trisomy 21 or Down's Syndrome, which becomes more common as the age of the pregnant mom increases. Most pregnant women do get screened and or at least ask about Down syndrome, which is NOT inherited, it just happens
    • Pregnant women under the age of 40 have a higher risk to be a Fragile X mutation carrier than a chance to have a child with Down syndrome 
Fragile X carrier screening is recommended by the national genetics and the national obstetric guidelines. The ACMG Guidelines for women with fertility or reproductive issues, especially with a family history of ovarian failure, family history of unknown intellectual disability or late-onset intention tremor or cerebellar ataxia of unknown etiology and ACOG recommends it for those with Premature Menopause (before age 40).

Recent 2015 paper noted that Fragile X testing is indicated for individuals with family members with intellectual impairment, autism or autism spectrum disorder (ASD), so there are health reasons other than pregnancy to have the testing.

The test is a non-invasive blood test, it can be done at NxGen MDx and can be done during pregnancy or during a pregnancy planning visit, which we recommend at Women's Health Practice

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