Staff View
Trends in reproductive male partner testing when female patient is identified to be a genetic disease carrier

Descriptive

TitleInfo
Title
Trends in reproductive male partner testing when female patient is identified to be a genetic disease carrier
Name (type = personal)
NamePart (type = family)
Simone
NamePart (type = given)
Laurie M.
NamePart (type = date)
1990-
DisplayForm
Laurie M. Simone
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)
Joines
NamePart (type = given)
Jessica
DisplayForm
Jessica Joines
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
internal member
Name (type = personal)
NamePart (type = family)
Heiman
NamePart (type = given)
Gary
DisplayForm
Gary Heiman
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
internal member
Name (type = personal)
NamePart (type = family)
Khan
NamePart (type = given)
Shama
DisplayForm
Shama Khan
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
internal member
Name (type = personal)
NamePart (type = family)
Ciarlariello
NamePart (type = given)
Molly
DisplayForm
Molly Ciarlariello
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
internal 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)
Expanded 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.
Subject (authority = RUETD)
Topic
Microbiology and Molecular Genetics
Subject (authority = local)
Topic
Expanded carrier screening
Subject (authority = local)
Topic
Male partner testing
Subject (authority = local)
Topic
Carrier couple
Subject (authority = LCSH)
Topic
Genetic screening
RelatedItem (type = host)
TitleInfo
Title
Rutgers University Electronic Theses and Dissertations
Identifier (type = RULIB)
ETD
Identifier
ETD_9602
PhysicalDescription
Form (authority = gmd)
InternetMediaType
application/pdf
InternetMediaType
text/xml
Extent
1 online resource (iv, 19 pages)
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-bbjw-fv22
Genre (authority = ExL-Esploro)
ETD graduate
Back to the top

Rights

RightsDeclaration (ID = rulibRdec0006)
The author owns the copyright to this work.
RightsHolder (type = personal)
Name
FamilyName
Simone
GivenName
Laurie
MiddleName
M.
Role
Copyright Holder
RightsEvent
Type
Permission or license
DateTime (encoding = w3cdtf); (qualifier = exact); (point = start)
2019-03-23 12:16:43
AssociatedEntity
Name
Laurie Simone
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
Back to the top

Technical

RULTechMD (ID = TECHNICAL1)
ContentModel
ETD
OperatingSystem (VERSION = 5.1)
windows xp
CreatingApplication
Version
1.7
ApplicationName
Microsoft® Word for Office 365
DateCreated (point = end); (encoding = w3cdtf); (qualifier = exact)
2019-03-23T12:03:59
DateCreated (point = end); (encoding = w3cdtf); (qualifier = exact)
2019-03-23T12:03:59
Back to the top
Version 8.5.5
Rutgers University Libraries - Copyright ©2024