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Articles 1 - 5 of 5
Full-Text Articles in Other Medical Specialties
Perceived Utility Of Genetic Carrier Screening In A Diverse Patient Population, Jack A. Colleran
Perceived Utility Of Genetic Carrier Screening In A Diverse Patient Population, Jack A. Colleran
Dissertations and Theses (Open Access)
Carrier screening assesses whether an individual may carry variants in select genes associated with autosomal recessive and X-linked inheritance. Recent American College of Medical Geneticists (ACMG) guidelines call for utilization of expanded screening that analyzes carrier status for up to hundreds of conditions. In these guidelines, clinical utility is based on alterations to reproductive decision-making. However, clinical utility study cohorts cited by these guidelines were largely white, highly educated, of high income, and were often receiving preconception counseling. There is a lack of research on the perspectives of patients from diverse backgrounds, whose perceptions may be more reflective of those …
Exploring The Potential Yield Of Prenatal Testing By Evaluating A Postnatal Population With Structural Abnormalities, Peyton Busby
Exploring The Potential Yield Of Prenatal Testing By Evaluating A Postnatal Population With Structural Abnormalities, Peyton Busby
Dissertations and Theses (Open Access)
After identification of one or more structural abnormalities in a fetus, pregnant women are offered a host of different testing options to identify a possible genetic cause for the structural abnormality(ies). When considering what type of test to undertake, there is limited information on the diagnostic yield of the varying testing options. Some women may miss an opportunity to gain the information they are seeking or make a less informed decision when they choose a testing option after identification of a structural abnormality due to this lack of information. This study aimed to identify the potential diagnostic yield of all …
Support Desired By Women Following Termination Of Pregnancy For A Fetal Anomaly, Aarti Ramdaney
Support Desired By Women Following Termination Of Pregnancy For A Fetal Anomaly, Aarti Ramdaney
Dissertations and Theses (Open Access)
With the rapidly evolving field of prenatal testing, there is a growing need to provide support for women pursuing a termination of pregnancy following the discovery of a fetal anomaly. Previous studies have documented that women in this situation often feel unsupported after the procedure, but the type of resources desired by this population remains undetermined. A longitudinal study was performed in 51 women terminating for a fetal anomaly at a private clinic at the time of the procedure, at 6 weeks, and at 3 months following the event. Surveys were kept anonymous and investigated the awareness and utilization of …
Knowledge And Perception Of The Role Of Targeted Ultrasound In Detecting Down Syndrome Among A High Risk Population, Ashley M. Henriksen
Knowledge And Perception Of The Role Of Targeted Ultrasound In Detecting Down Syndrome Among A High Risk Population, Ashley M. Henriksen
Dissertations and Theses (Open Access)
The purpose of this study was to determine the perception and knowledge of targeted ultrasound in women who screen positive for Down syndrome in the first or second trimester, and to assess the perceived detection rate of Down syndrome by targeted ultrasound in this population. While several studies have reported patient perceptions’ of routine ultrasound, no study has specifically examined knowledge regarding the targeted ultrasound and its role in detecting Down syndrome. A targeted ultrasound is a special ultrasound during the second trimester offered to women who may be at a higher-than-average risk of having a baby with some type …
Prevalence Of Premature Ovarian Failure In Women With Tuberous Sclerosis, Emily Gabitzsch
Prevalence Of Premature Ovarian Failure In Women With Tuberous Sclerosis, Emily Gabitzsch
Dissertations and Theses (Open Access)
Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor disorder characterized by hamartomas, or benign growths, in various organ systems. Inactivating mutations in either the TSC1 or the TSC2 gene cause most cases of TSC. Recently, the use of ovarian specific conditional knock-out mouse models has demonstrated a crucial role of the TSC genes in ovarian function. Mice with complete deletion of Tsc1 or Tsc2 showed accelerated ovarian follicle activation and subsequent premature follicular depletion, consistent with the human condition premature ovarian failure (POF). POF is defined in women as the cessation of menses before the age of 40 …