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Utilization of cell-free DNA screening for single gene disorders seen more commonly in offspring of older fathers
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Reeve, Taylor F.. Utilization of cell-free DNA screening for single gene disorders seen more commonly in offspring of older fathers. Retrieved from https://doi.org/doi:10.7282/t3-3smv-fy80

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TitleUtilization of cell-free DNA screening for single gene disorders seen more commonly in offspring of older fathers
NameReeve, Taylor F. (author); Ashkinadze, Elena (chair); Kham, Shama (internal member); Limone, Laura (outside member); Rutgers University; School of Graduate Studies
Date Created2019
Other Date2019-05 (degree)
SubjectAdvanced paternal age, Microbiology and Molecular Genetics, Older parents -- Health risk assessment, Genetic screening
Extent1 online resource (iv, 24 pages) : illustrations
DescriptionAs novel technologies readily become available for patients, we sought to determine the uptake rates as well as any barriers, to cell-free DNA screening for single gene disorders with advanced paternal age as a primary indication for which the technology was offered. This novel technology uses cell-free DNA in maternal serum to screen for de novo, single-gene, autosomal dominant mutations associated with advanced paternal age. This small pilot study retrospectively examined one year of data (June 1, 2017 – June 30, 2018) at a regional perinatal center. Of the 1,843 genetic counseling encounters, we examined records for 51 patients that were offered this novel screening technology due to advanced paternal age in the male reproductive partner. We found that 17/51 (33%) patients utilized this screen. To better understand the potential barriers for the uptake of this screen, we assessed gravity and parity status, maternal age, paternal age, history of infertility, gestational age at the time screening was offered, presence of the father of the fetus at the appointment, and if the patient had invasive testing. Through multivariant analysis, our study revealed two statistically significant factors associated with technology uptake rates. These two factors were patients whose partner was present at the genetic counseling session when the screen was offered, and patients who had invasive testing. Paternal age-related risks are an important discussion point in reproductive genetic counseling. Novel technologies that assess these risks have to be carefully studied before they are implemented into prenatal practice.
NoteM.S.
NoteIncludes bibliographical references
Genretheses, ETD graduate
Persistent URLhttps://doi.org/doi:10.7282/t3-3smv-fy80
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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