Date of Award
8-16-2024
Document Type
Open Access Thesis
Department
Genetic Counseling
First Advisor
Shandrea Foster
Abstract
Sickle cell disease (SCD) is a group of disorders of the hemoglobin resulting in episodes of chronic pain, pulmonary hypertension, progressive multiorgan damage, risk for stroke, and increased mortality. It is caused by biallelic pathogenic variants in the HBB gene and 1 in 12 African Americans, 1 in 100 Hispanic individuals, and 1 in 30-50 Mediterranean people are reported to be carriers of the disease and have sickle cell trait (SCT). SCD is typically diagnosed through newborn screening; however, when prospective parents are aware of their carrier status, they can conceive via in vitro fertilization (IVF) and have genetic testing through preimplantation genetic testing for monogenic diseases (PGT-M), or histocompatible embryo selection, (PGT-HLA), to inform themselves on the status of the embryo prior to pregnancy. This study aimed to assess the awareness and interest parents of children affected by SCD have on preimplantation genetic testing through an online survey shared through social media and national organizations. Based on the results of this study, there is an interest in gaining information on both PGT-M and PGT-HLA with an influencing factor being the desire to have, or not have, more children. The study also analyzed participants’ trust in healthcare and its role in the interest of PGT-M and PGT-HLA. While most participants did not believe that it impacted their interest, most did believe that the treatment they received from healthcare providers correlated with their race. The study also showed that participants who did not experience discrimination or racism from healthcare providers due to having a child with SCD, or their race, were less likely to want more information about PGT. This preliminary study can guide future studies and bring awareness to providers that interest in PGT-M and PGT-HLA does exist within this community.
Rights
© 2024, Justine Frances Manigault
Recommended Citation
Manigault, J. F.(2024). Preimplantation Genetic Testing for Sickle Cell Disease; Exploring the Effect Health Disparities Have on Parental Awareness and Interest. (Master's thesis). Retrieved from https://scholarcommons.sc.edu/etd/7839