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Full-Text Articles in Medical Genetics
Patient-Reported Barriers & Outcomes Of Cardiovascular Genetic Counseling In Diverse Populations Of New York City, Marisa M. Thornburg, Alynn M. Kruse
Patient-Reported Barriers & Outcomes Of Cardiovascular Genetic Counseling In Diverse Populations Of New York City, Marisa M. Thornburg, Alynn M. Kruse
Human Genetics Theses
Hereditary cardiomyopathies and cardiac arrhythmias can be inherited in an autosomal dominant pattern, which puts a patient with a positive genetic test result at a 50% chance to pass this variant onto any children. Our pilot study with Montefiore Medical Center aims to understand how confident patients feel about their cardiology genetic test results and how participants can share information with relevant family members and healthcare professionals. This study attempts to qualify the physical and emotional barriers patients face and understand the psychosocial burden they face following their results session. For our study, 43 participants were contacted via phone call …
Obstetrician And Gynecologist Utilization Of The Nipt Expanded Testing Option, Sarah Mayes Ba
Obstetrician And Gynecologist Utilization Of The Nipt Expanded Testing Option, Sarah Mayes Ba
Dissertations & Theses (Open Access)
Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum. Although the accuracy of NIPT for fetal aneuploidy is expected to be higher than that of currently available alternative maternal serum screening options, the implications of results are not straight forward. In October 2013, the option to screen for additional trisomies and select microdeletion syndromes, such as 22q11.2 deletion syndrome and 5 p- syndrome, became clinically available. Due to this rapidly evolving prenatal screening technology, clinicians must …