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Trends in reproductive male partner testing when female patient is identified to be a genetic disease carrier
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Simone, Laurie M.. Trends in reproductive male partner testing when female patient is identified to be a genetic disease carrier. Retrieved from https://doi.org/doi:10.7282/t3-bbjw-fv22

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TitleTrends in reproductive male partner testing when female patient is identified to be a genetic disease carrier
NameSimone, Laurie M. (author); Ashkinadze, Elena (chair); Joines, Jessica (internal member); Heiman, Gary (internal member); Khan, Shama (internal member); Ciarlariello, Molly (internal member); Rutgers University; School of Graduate Studies
Date Created2019
Other Date2019-05 (degree)
SubjectMicrobiology and Molecular Genetics, Expanded carrier screening, Male partner testing, Carrier couple, Genetic screening
Extent1 online resource (iv, 19 pages)
DescriptionExpanded carrier screening (ECS) is a pan-ethnic blood test that identifies couples at risk for having a child with a rare genetic condition. Our aim was to quantify carrier testing uptake rates for male partners of an individual found to be a carrier for an autosomal recessive condition as well as potential barriers to test uptake rates. This was a retrospective chart review of female patients who were found to be carriers through expanded carrier screening panels, which determined how often their male partner chose testing, reasons for declining and type of methodology chosen for their screening. Seventy-seven percent of males had testing. We identified that the most significant barrier to male partner testing is female patients not following up on her carrier screening results; therefore, the partner was not offered testing. When male partners were provided options for testing, the most reported reason for declining is the belief it would have no impact on pregnancy management. A carrier couple rate of 8.3% was identified.
NoteM.S.
NoteIncludes bibliographical references
Genretheses, ETD graduate
Persistent URLhttps://doi.org/doi:10.7282/t3-bbjw-fv22
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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