Because your baby had a not normal screening test result, a second test is needed to be sure your baby has a change in the fragile X gene (fragile X).

What will happen if you give permission for your baby to have a confirmatory test for FX?

If you give permission for the testing, you will need to collect a sample of your baby's saliva for the test.

• A test kit will be sent to you in the mail. This kit has supplies and instructions for how to take a sample of spit from your baby using a cheek swab. A box with a pre-paid mailing label will also be included so you can send the sample back to the lab at the University of North Carolina at Chapel Hill for testing.
• If there is any leftover sample after the test, it may be kept at the laboratory until the Early Check study ends, and then it will be destroyed.
• About 2 weeks after you return the test kit, when the results of the second test are ready, a genetic counselor (a specialist in discussing genetic conditions with families) will meet with you to help you understand the test results and what this genetic condition may mean for your baby and you.
• If the second test confirms that your baby has FX, you can choose to sign a form called a HIPAA waiver. This will allow the Early Check team to notify your baby’s healthcare provider about the test results and add the results to your baby’s electronic health record at the University of North Carolina at Chapel Hill.

Fragile X is a genetic condition that runs in families. If you agree to confirmatory testing for your baby, you can also choose to find out if you have a fragile X gene change.

• Not everyone with a change in the gene for fragile X is affected in the same way. Some people may have fragile X syndrome, and other people may have a smaller change in the gene, called the fragile X premutation.
• The fragile X premutation may cause mild effects in learning or behavior or no symptoms at all during childhood. Some people with fragile X premutation can develop a neurologic condition later in life that effects movement and thinking. Some women with the fragile X premutation can have difficulty getting pregnant and some experience anxiety or depression.
• For people with a fragile X gene change, there is a higher chance that their children will have either the premutation or fragile X syndrome, so finding out if you have a change in the fragile X gene can be important for you and other members of your family, particularly if you think you will want to have more children.

You can choose to have this testing now or you can decide later, after talking to the genetic counselor when your baby’s test results are ready.

What will happen if you give permission for you to be tested for FX?

If you give permission for the testing, you will need to collect a sample of your saliva for the test.

• A second test kit will be sent for your saliva sample.
• The results of the test and implications for you and your family, will be explained by the genetic counselor when you meet with the genetic counselor about your baby’s results. If you decide to have the testing later, the genetic counselor will talk with you about your results at a different time.
• These test results will be reported to you only. They will not be part of your medical record unless you decide to share them with your doctor.