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Rate of manifesting carriers and other unexpected findings on expanded carrier screening
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Clevenger, Sydney Katelyn. Rate of manifesting carriers and other unexpected findings on expanded carrier screening. Retrieved from https://doi.org/doi:10.7282/t3-em2x-h875

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TitleRate of manifesting carriers and other unexpected findings on expanded carrier screening
NameClevenger, Sydney Katelyn (author); Ashkinadze, Elena (chair); Heiman, Gary (member); Seymour, Christine (member); Rutgers University; School of Graduate Studies
Date Created2022
Other Date2022-05 (degree)
SubjectGenetics, Expanded carrier screening, Implications, Manifesting carrier, Unexpected finding
Extent22 pages
DescriptionUnexpected findings on expanded carrier screening (ECS) are a possible result type that introduces challenges for genetic counselors, obstetric clinicians, and patients. A retrospective chart review of 4,685 patients seen at a large tertiary care center and associated centers who had ECS panels was performed. The aims of this study were to determine how often unexpected findings were identified through ECS and if the implications of the result were discussed with patients. All patients seen within a large tertiary care center and associated centers who had expanded carrier screening within the selected time frame were included in the study. Unexpected findings were defined as manifesting carriers (MCs), genotypes that predict phenotype, and chromosome abnormalities. A total of 441 subjects (9.4%) had at least one unexpected finding identified through ECS. Of the subjects identified to be MCs, 27.6% were informed of the implications associated with carrier status. Most subjects who had a genotype that could predict phenotype (91.3%) and all subjects who were identified to have a chromosome abnormality (100%) were informed of the implications of that result. This study highlights the importance of pre-test counseling about the possibility of unexpected findings. Given the low number of patients who received post-test counseling for the implications of manifesting carrier status, provider education on this topic is important.
NoteM.S.
NoteIncludes bibliographical references
Genretheses
Persistent URLhttps://doi.org/doi:10.7282/t3-em2x-h875
LanguageEnglish
CollectionSchool of Graduate Studies Electronic Theses and Dissertations
Organization NameRutgers, The State University of New Jersey
RightsThe author owns the copyright to this work.
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