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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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TitleInfo
Title
Utilization of cell-free DNA screening for single gene disorders seen more commonly in offspring of older fathers
Name (type = personal)
NamePart (type = family)
Reeve
NamePart (type = given)
Taylor F.
NamePart (type = date)
1992-
DisplayForm
Taylor F. Reeve
Role
RoleTerm (authority = RULIB)
author
Name (type = personal)
NamePart (type = family)
Ashkinadze
NamePart (type = given)
Elena
DisplayForm
Elena Ashkinadze
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
chair
Name (type = personal)
NamePart (type = family)
Kham
NamePart (type = given)
Shama
DisplayForm
Shama Kham
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
internal member
Name (type = personal)
NamePart (type = family)
Limone
NamePart (type = given)
Laura
DisplayForm
Laura Limone
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
outside member
Name (type = corporate)
NamePart
Rutgers University
Role
RoleTerm (authority = RULIB)
degree grantor
Name (type = corporate)
NamePart
School of Graduate Studies
Role
RoleTerm (authority = RULIB)
school
TypeOfResource
Text
Genre (authority = marcgt)
theses
OriginInfo
DateCreated (encoding = w3cdtf); (qualifier = exact)
2019
DateOther (encoding = w3cdtf); (qualifier = exact); (type = degree)
2019-05
Language
LanguageTerm (authority = ISO 639-3:2007); (type = text)
English
Abstract (type = abstract)
As 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.
Subject (authority = local)
Topic
Advanced paternal age
Subject (authority = RUETD)
Topic
Microbiology and Molecular Genetics
Subject (authority = LCSH)
Topic
Older parents -- Health risk assessment
Subject (authority = LCSH)
Topic
Genetic screening
RelatedItem (type = host)
TitleInfo
Title
Rutgers University Electronic Theses and Dissertations
Identifier (type = RULIB)
ETD
Identifier
ETD_9689
PhysicalDescription
Form (authority = gmd)
InternetMediaType
application/pdf
InternetMediaType
text/xml
Extent
1 online resource (iv, 24 pages) : illustrations
Note (type = degree)
M.S.
Note (type = bibliography)
Includes bibliographical references
RelatedItem (type = host)
TitleInfo
Title
School of Graduate Studies Electronic Theses and Dissertations
Identifier (type = local)
rucore10001600001
Location
PhysicalLocation (authority = marcorg); (displayLabel = Rutgers, The State University of New Jersey)
NjNbRU
Identifier (type = doi)
doi:10.7282/t3-3smv-fy80
Genre (authority = ExL-Esploro)
ETD graduate
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Rights

RightsDeclaration (ID = rulibRdec0006)
The author owns the copyright to this work.
RightsHolder (type = personal)
Name
FamilyName
Reeve
GivenName
Taylor
MiddleName
F.
Role
Copyright Holder
RightsEvent
Type
Permission or license
DateTime (encoding = w3cdtf); (qualifier = exact); (point = start)
2019-04-05 11:21:30
AssociatedEntity
Name
Taylor Reeve
Role
Copyright holder
Affiliation
Rutgers University. School of Graduate Studies
AssociatedObject
Type
License
Name
Author Agreement License
Detail
I hereby grant to the Rutgers University Libraries and to my school the non-exclusive right to archive, reproduce and distribute my thesis or dissertation, in whole or in part, and/or my abstract, in whole or in part, in and from an electronic format, subject to the release date subsequently stipulated in this submittal form and approved by my school. I represent and stipulate that the thesis or dissertation and its abstract are my original work, that they do not infringe or violate any rights of others, and that I make these grants as the sole owner of the rights to my thesis or dissertation and its abstract. I represent that I have obtained written permissions, when necessary, from the owner(s) of each third party copyrighted matter to be included in my thesis or dissertation and will supply copies of such upon request by my school. I acknowledge that RU ETD and my school will not distribute my thesis or dissertation or its abstract if, in their reasonable judgment, they believe all such rights have not been secured. I acknowledge that I retain ownership rights to the copyright of my work. I also retain the right to use all or part of this thesis or dissertation in future works, such as articles or books.
Copyright
Status
Copyright protected
Availability
Status
Open
Reason
Permission or license
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Technical

RULTechMD (ID = TECHNICAL1)
ContentModel
ETD
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windows xp
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1.7
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Microsoft® Word for Office 365
DateCreated (point = end); (encoding = w3cdtf); (qualifier = exact)
2019-04-08T14:34:24
DateCreated (point = end); (encoding = w3cdtf); (qualifier = exact)
2019-04-08T14:34:24
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