What Is a Genetic Diagnosis During Pregnancy?
A genetic diagnosis during pregnancy, also called a prenatal genetic diagnosis, means that testing during pregnancy has found a change in a baby’s genes or chromosomes. Genes are small pieces of DNA that help guide how the body grows and works. Chromosomes are structures that contain many genes. Depending on the diagnosis, these changes can affect one or many parts of the body. Examples include, but are not limited to, chromosome conditions such as Down syndrome, trisomy 18, trisomy 13, and Turner syndrome; deletions or duplications, where a small chromosome piece is missing or extra; and conditions that affect single genes, such as cystic fibrosis, sickle cell disease, spinal muscular atrophy, and fragile X syndrome.
Sharing Your Experience
Researchers at the University of South Carolina would like to learn about parents’ experiences receiving a genetic diagnosis for their baby during pregnancy. The researchers hope to understand how the diagnosis may affect parents and families, as well as whether and how they experience hope, comfort, joy, or other positive emotions throughout their journey. They are especially interested in the experiences, relationships, and sources of support that may contribute to these feelings.
Who Can Participate?
Participation involves a virtual interview, during which participants will be invited to share their experience of receiving a diagnosis during pregnancy and reflect on what had a positive or meaningful impact on their journey. You may be eligible if you are a parent who received a genetic diagnosis for your baby during pregnancy, received the diagnosis within the past two years, and are willing to participate in a virtual interview about your experience.
If you are interested in participating, contact Sophie Macner, BS, at (518) 565-6598 or Smacner@uscmed.sc.edu, or scan the QR code or use the study’s interest survey.
