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Full-Text Articles in Medicine and Health Sciences
Disability Awareness Education And Implications For Genetic Counselor Training, Lauren Douglas, Chelsea Wagner, Jennifer Czerwinski, Myla Ashfaq, Rebecca Lunstroth, Rose Vukoic
Disability Awareness Education And Implications For Genetic Counselor Training, Lauren Douglas, Chelsea Wagner, Jennifer Czerwinski, Myla Ashfaq, Rebecca Lunstroth, Rose Vukoic
Dissertations & Theses (Open Access)
The genetic counseling (GC) community has faced criticism concerning the duality of promoting patient autonomy while advocating for individuals with disabilities. Research suggests that focusing on the education of GC students could ensure GCs feel prepared to have conversations about disability, as well as strengthen the relationship with the disability community. This study aimed to evaluate the landscape of GC disability awareness education to identify gaps and strengths. The study also aimed to assess attitudes and perspectives of GCs and the disability community to identify content that should be included in GC student’s disability awareness curriculum. GCs and members of …
Genetic Testing In Pregnancies With Ultrasound Anomalies: Exploration Of Factors That Influence Uptake, Lukas D. Kruidenier
Genetic Testing In Pregnancies With Ultrasound Anomalies: Exploration Of Factors That Influence Uptake, Lukas D. Kruidenier
Dissertations & Theses (Open Access)
Prenatal genetic diagnostic and screening tests have been rapidly evolving over the past decade with the introduction and expansion of cell free DNA screening (cfDNA) and the use of chromosomal microarray (CMA) as a first-line test for evaluation of fetal anomalies. Understanding patient motivations for or against expanded genetic testing options is paramount, therefore this study aimed to ascertain the patient perspective. Ninety-nine patients with an ultrasound anomaly participated in an anonymous, cross-sectional, research survey assessing coping strategies, factors influencing the genetic testing decision, and demographic variables. After multivariable analysis, the desire for directive counseling regarding testing was correlated with …
Isolated, Absent Cavum Septum Pellucidum: A Single Center’S Outcomes And Review Of The Literature, Renee Bardini
Isolated, Absent Cavum Septum Pellucidum: A Single Center’S Outcomes And Review Of The Literature, Renee Bardini
Dissertations & Theses (Open Access)
An absent cavum septum pellucidum (CSP) has traditionally been associated with a wide range of neuroanatomical anomalies. With recent advancements in prenatal imaging, however, an absent CSP that occurs in isolation of other anomalies is becoming a more frequent finding. Yet knowledge of clinical outcomes remain limited. Our study aims to describe ultrasound abnormalities associated with an absent CSP and the postnatal outcomes of an isolated, absent CSP. Additionally, we explore the accuracy of prenatal ultrasounds in evaluating for an absent CSP. This is a retrospective study of all cases diagnosed with an absent CSP between January 1, 2009 and …