FMR1 test, molecular Fragile X diagnosis, Fragile X DNA test
This test checks a sample of your amniotic fluid to find out whether your fetus may have fragile X syndrome, a rare genetic disorder.
Fragile X syndrome often causes intellectual disability, behavior and learning challenges, and autistic disorders. This prenatal test isn't a common one. But if you or your partner has this syndrome or is a known carrier of the gene mutation that causes it, your doctor may recommend it. A DNA analysis is done on the sample to look for a mutation in the FMR1 gene, which causes Fragile X syndrome.
If there's a chance your child has Fragile X syndrome, nothing can be done to prevent it. Knowing that your unborn baby has Fragile X syndrome can help you plan accordingly to care for a child with special needs.
You may have this test if you are pregnant and you are at risk of having a child with fragile X syndrome. Your child is at risk if you have the syndrome or you or your partner is a known carrier of the gene that causes it.
Your doctor may also order other prenatal tests to look for other risk factors.
Many things may affect your lab test results. These include the method each lab uses to do the test. Even if your test results are different from the normal value, you may not have a problem. To learn what the results mean for you, talk with your health care provider.
Normal results are negative, meaning that no gene mutation was found and your child does not have fragile X syndrome.
A positive result means that the mutation was found and that it's likely your unborn baby has the syndrome.
This test requires a sample of amniotic fluid. The sample is collected through a procedure called amniocentesis. The doctor will insert a thin needle through your abdomen and uterus and into the fluid-filled sac that surrounds the fetus. A small sample of amniotic fluid will be removed from the sac.
Amniocentesis carries a slight risk for miscarriage. It also poses a slight possibility that it will cause birth defects if done too early in the pregnancy. You may have minimal cramping during or after the test.
You may need to rest for the remainder of the day after the procedure. You should be able to resume normal activity the next day.
Other factors aren't likely to affect your results.
You don't need to prepare for this test.