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Date of Award
Thesis - Campus Access Only
MS Human Genetics
Human Genetics Graduate Program
There is a dearth of literature describing the specific and complex genetic counseling needs of patients with known carrier status of fragile X syndrome (FXS) seeking preimplantation genetic diagnosis (PGD). This study utilized patient data to compare expansion rates in premutation carriers for FXS undergoing PGD versus expansion rates in the FXS premutation general population not undergoing PGD. A retrospective chart review was conducted using data found in medical charts from patients seen by the PGD genetic counselors at the PGD company, Reprogenetics, between 2004 to 2015. Participants were selected for carrying a premutation FXS allele and pursuing PGD. A total of 103 charts of women undergoing PGD for FXS were examined. The expansion rate of individuals in the general population of FXS carriers was higher than that in our sample population. The difference in expansion rates was significantly significant (χ= (1)= 4.12, p<.05).This difference in expansion rate can be applied to more accurate risk assessments provided to patients. Additionally examined were how psychosocial constructs impacted decisional outcomes such as termination rates and the choice to have additional genetic testing on their embryos. We propose that the data provided by this study can serve as the groundwork for future research regarding a specific counseling approach for this particular patient population.
William, Nori and Olsson, Devon, "An Assessment of Expansion in Fragile X Syndrome Premutation Carriers Undergoing Preimplantation Genetic Diagnosis and an Exploration of Psychosocial Implications" (2016). Human Genetics Theses. 22.