Date of Award
Open Access Thesis
Turner syndrome affects approximately one in 2,500 live female births, and etiology includes the partial or complete loss of the second X-chromosome. Prognosis varies depending on whether a diagnosis is made prenatally or postnatally. Current recommendations state that counselors should be involved in the diagnosis; however, guidelines for what information to include during an initial diagnosis do not exist. The aim of this study was to identify which informational items related to Turner syndrome are considered most essential by parents and genetic counselors.
A survey including 100 informational items related to Turner syndrome was sent to genetic counselors and parents whose children were diagnosed with Turner syndrome. Participants ranked the importance of each informational item for an initial diagnosis. Information that both genetic counselor and parent groups ranked within the top 30 items was deemed “essential” for an initial discussion of a Turner syndrome diagnosis.
Of the top 30-ranked items for each group, 13 items were deemed essential for an overall diagnosis, 21 informational items were deemed essential for a prenatal diagnosis, and 20 informational items were deemed essential for a postnatal diagnosis. There were also statistically significant differences in the item ratings between each survey group, which included prenatal genetic counselors, postnatal genetic counselors, and parents who have received either a prenatal or postnatal diagnosis for their child. Findings of our study may provide a guide for what providers should focus on when presenting an initial Turner syndrome diagnosis to parents in the future.
Wasson, J. L.(2021). Essential Informational Needs of Parents Receiving a Turner Syndrome Diagnosis: Parent and Genetic Counselor Perspectives. (Master's thesis). Retrieved from https://scholarcommons.sc.edu/etd/6239