Honors Capstone Project
Date of Submission
Dr. Robert Roger Lebel
Dr. Kari Segraves
Arts and Science
Capstone Prize Winner
Won Capstone Funding
Sciences and Engineering
Biology | Genetics | Genetics and Genomics | Other Genetics and Genomics
Perinatal genetic counseling is a health service provided to patients who carry risk factors for genetic abnormalities for their offspring. There are several non-invasive and invasive tests offered to patients in order to provide genetic information about possible disorders. The non-invasive screens calculate a percentage of risk relative to average population risk. If the non-invasive screens predict an elevated risk, a more invasive test can be offered to obtain definitive results about possible disorders in the pregnancy. The most commonly used invasive test is called amniocentesis and it carries a risk for pregnancy complications. After receiving abnormal results on the non-invasive screens, patients have the option to continue with invasive testing to obtain definitive results.
This project sought to discern factors predictive of testing choice after abnormal screen results. From 134 patient charts that fit certain criteria, several factors such as screen-calculated risk were analyzed and evaluated using a statistical analysis program.
Of the factors analyzed, a trend in the data can be seen. The higher a woman’s calculated risk of genetic abnormality in the fetus, the more likely she was to continue onto invasive testing.
This research has future implications for the field of genetic counseling. The more information there is concerning testing implications and testing choice, the better the care that health professionals will be able to provide.
Tovpeko, Yanina, "The Basis and Implications of Genetic Counseling in Patient Testing Choice" (2011). Syracuse University Honors Program Capstone Projects. 259.
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