Who can participate in the study?
We are seeking mothers and their children who have spina bifida to participate in the study. We are also seeking mothers who have children with no birth defects to be controls in our study. Currently, we are only accepting US and Canadian residents to participate in our study.
What is a control participant and why are they important to the study?
The Spina Bifida Genetics Research Project needs both mothers who have a child affected by spina bifida and mothers who do not have children affected by a birth defect. In research projects, individuals who have the condition or symptoms being studied are “cases” and those individuals without the disease or condition are designated “controls”. For this study, mothers who have a child with spina bifida will be cases, and mothers who do not have a child affected by a birth defect will be the controls. Our research project will compare the genetic profiles of the cases to the genetic profiles of the controls. Statistical analysis is used to determine an association between specific genetic factors and the occurrence of spina bifida.
Why are fathers excluded from the study?
As long as we have samples from mothers and their children, we will be able to figure out the genetic contribution of fathers, so we do not them to participate directly.
I have two children with spina bifida. Can both
of them participate in the study?
Yes, both children may participate. The survey is designed to only ask questions about one child. Please complete the study about your most recent child born with spina bifida. After you complete the study please email Courtney Beyer the Study Coordinator at firstname.lastname@example.org to inform her that you have more than one child with spina bifida. She will then be able to send you the appropriate number of home-collection saliva kits.
My child with spina bifida is an adult. Can we still participate?
Yes, there are no age limits to participating. Children of any age can participate if they have spina bifida.
My child was conceived using an egg donor. Can we still participate?
Unfortunately we are unable to study families conceived using an egg donor. We are looking at genetic variants therefore mom and child must be related.
My child with spina bifida was conceived with my egg and my partner’s sperm, but was carried by a surrogate. Can we still participate?
Unfortunately we are unable to study families created through a surrogate. Despite mother and child being genetically related, the surrogate’s genetic profile and lifestyle has an influence on the pregnancy.
My child was conceived using a sperm donor. Can we still participate?
Yes. As long as we have a saliva sample from the mother and her child, we will be able to figure out the genetic contribution of the biological father, so no information about the biological father is required.
I have children who do not have any birth defects. Can my children and I participate in the study?
At this time we are collecting saliva samples from mothers and their children who have spina bifida and mothers who have children with no birth defects as “controls”. In this study, we are not collecting samples from children with no birth defects.
My child has a spina bifida occulta. Can we participate?
Unfortunately, we are unable to study spina bifida occulta. We are only able to include participants who have a diagnosis of open spina bifida.
Are you only interested in the myelomeningocele (open) form of spina bifida?
Yes. We are only able to accept samples from mothers and their children who have open spina bifida (myelomenigocele). There are many similar conditions to open spina bifida, however because our goal is to study genetic variants related to open spina bifida, these other conditions will have other genetic variations associated with them and will cause the researchers confusion when analyzing the data.
My child who has spina bifida does not want to participate, can I still participate?
Yes. Mothers can participate even if their child with spina bifida does not want to participate.
I have friends who have children with spina bifida, or who may be interested in participating as a control mother. Is it OK for me to tell them about the study?
Yes. If you know someone who is NOT related to you genetically ("by blood") and they might be interested, please direct them to our enrollment site: www.sbgenetics.org. They can look at the material and decide if they want to participate.