Enrollment and participation in the FXS Newborn Screening Study

Information about the study will be available to new mothers at UNC Hospitals. A research assistant will be present on site to discuss the study and the consent form, and answer any questions.

Before you leave the hospital, a little blood will be taken from your baby's heel (a blood spot) for North Carolina's routine newborn screening. If you participate in this study, blood from that same heel prick will be used for the fragile X screening. This extra blood spot will be kept by the lab doing the testing. It will only be used to look for and study the gene associated with fragile X (FMR1 gene) and will not be used for other research. Once the researchers can no longer learn anything about fragile X from this sample, it will be destroyed.

The screening process can take about 4 weeks. You should receive a letter giving the results of the screening within 4-8 weeks from the time you and your baby leave the hospital. If the screening shows a need for more testing, it does not necessarily mean your baby has FXS. That takes specialized (diagnostic) testing. For a few babies in the study, the screening will show the need for more testing and evaluation. If these are needed, we will contact you and provide them without cost to you.

If you have recently given birth at UNC Hospitals and were not informed of this study, but are interested in participating, please contact us.

Participation in additional studies

Some mothers will be asked if they would like to be interviewed on the telephone about the experience of having been invited to enroll in this screening study. Participation in these interviews is voluntary, and before we ask them to decide, we will give them more information about the telephone interview study.

Mothers of babies diagnosed as carriers or as having FXS will be invited to join a year-long study of infant development and how families adapt to fragile X. We will also invite the same number of mothers whose babies tested negative to be in this study. Participation in this additional year-long study of mothers and their babies is voluntary, and we will give those mothers more information before we ask them to commit.