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What tests are done during pregnancy to diagnose fragile X syndrome in the baby?

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These tests can be done during pregnancy to see if an unborn baby has fragile X:

After the child is born, a blood test can diagnose fragile X syndrome. This test looks for the FMR1 gene change. Babies born with fragile X syndrome don't always show signs of it. The doctor might notice that the baby's head is larger than usual. As the child gets older, learning and behavior problems can start.

  • Amniocentesis -- doctors check a sample of amniotic fluid for the FMR1 gene change
  • Chorionic villus sampling (CVS) -- doctors test a sample of cells from the placenta to check for the FMR1 gene

From: Fragile X Syndrome WebMD Medical Reference

SOURCES:

CDC: "Facts about Fragile X Syndrome."

Cleveland Clinic: "Fragile X Syndrome."

Fraxa Research Foundation: "Are There Treatments for Fragile X Syndrome?" and "What Causes Fragile X Syndrome?"

March of Dimes: "Fragile X Syndrome."

National Fragile X Foundation: "Fragile X syndrome."

National Human Genome Research Institute: "Learning about Fragile X Syndrome."

U.S. National Library of Medicine: "Fragile X Syndrome."

Reviewed by Renee A. Alli on September 09, 2018

SOURCES:

CDC: "Facts about Fragile X Syndrome."

Cleveland Clinic: "Fragile X Syndrome."

Fraxa Research Foundation: "Are There Treatments for Fragile X Syndrome?" and "What Causes Fragile X Syndrome?"

March of Dimes: "Fragile X Syndrome."

National Fragile X Foundation: "Fragile X syndrome."

National Human Genome Research Institute: "Learning about Fragile X Syndrome."

U.S. National Library of Medicine: "Fragile X Syndrome."

Reviewed by Renee A. Alli on September 09, 2018

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What are treatments for fragile X syndrome?

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