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Exploration Of Patient Attitudes Toward Receiving Incidental Diagnoses Of Lysosomal Storage Disorders Through Expanded Carrier Screening, Ally Abbott, Xindi Song
Exploration Of Patient Attitudes Toward Receiving Incidental Diagnoses Of Lysosomal Storage Disorders Through Expanded Carrier Screening, Ally Abbott, Xindi Song
Human Genetics Theses
The increased prevalence of expanded carrier screening (ECS) has made it possible for individuals to receive incidental diagnoses of genetic conditions through prenatal or preconception screening that was originally intended to assess risk for genetic conditions in future offspring. The inclusion of genetic conditions with variable expressivity and late-onset phenotypes, such as certain lysosomal storage disorders, have increased the likelihood that this type of screening will result in an incidental diagnosis. Four participants from the lysosomal storage disorders program at NYU Langone Health were interviewed to elicit their psychological reaction to incidental diagnoses of Gaucher Disease Type 1, Fabry Disease …
Attitudes Toward And Uptake Of Prenatal Genetic Screening And Testing In Twin Pregnancies, Kathryn M. Reese
Attitudes Toward And Uptake Of Prenatal Genetic Screening And Testing In Twin Pregnancies, Kathryn M. Reese
Dissertations & Theses (Open Access)
The rate of twinning is rising and is associated with delayed age at childbirth and increased infertility treatments. Since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. Therefore, this study aimed to describe the attitudes toward and uptake of current prenatal genetic screening and testing options in twin pregnancies. Forty-two women with twin gestations were recruited from UTHealth and Baylor College of Medicine sites between August 2016 and January 2017 for participation in a descriptive study consisting of a questionnaire (n=42) and semi-structured phone interview (n=15). …