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Family planning options for carriers of fragile X syndrome


If you are pregnant:

It is possible to find out during pregnancy if the fetus has fragile X syndrome.

  • If the fetus is affected with fragile X syndrome, you can continue the pregnancy and be prepared for the birth of a baby with fragile X syndrome.
  • Or you may choose to terminate an affected pregnancy.

The test to find out if the fetus has fragile X syndrome will require either chorionic villous sampling (CVS) or amniocentesis. Click here for more information on these procedures.

It is your choice whether to have this test or not.

The genetic counsellor will discuss with you the options for prenatal genetic testing and support you through the decision making process.


If you are not pregnant but are thinking about having a family you could consider.

  • IVF with genetic testing so an embryo is selected that is not affected with FXS. This is sometimes referred to as preimplantation genetic diagnosis.
  • Prenatal testing to find out during pregnancy if the fetus has fragile X syndrome.
  • Adoption.

The genetic counsellor can discuss all of these options with you.