Date of Award

1-1-2013

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Janice Edwards

Abstract

Purpose: Noninvasive prenatal testing (NIPT) has changed the landscape of prenatal genetic evaluation. This novel test can be performed as early as 10 weeks gestation without risk of pregnancy complication and has evoked questions about its applicability, appropriate use, and patient response. The purpose of this study was to evaluate patient decision-making processes about prenatal testing options as NIPT is integrated into the clinical realm. Method: Prenatal patients who were offered NIPT during genetic counseling (N = 105) in three cities in South Carolina completed a survey to address the goals of this study. Results: The top five factors most frequently rated as important by participants were as follows: (1) To be prepared if the baby had a disability (91%), (2) To avoid the risk of miscarriage (88%), (3) For reassurance the baby does not have a genetic condition (86%), (4) To obtain genetic information about the fetus as early as possible (81%), and (5) To have a test that provides more accurate information than other tests (77%). Three factors were found to be significantly more important to participants who selected NIPT than to participants who did not: (1) To obtain genetic information about the fetus as early as possible (p = .021), (2) To have a test that provides more accurate information than other tests (p = .025), and (3) To be prepared if the baby had a disability (p = .001). In addition, a majority of participants (74%) felt consideration of termination if the baby had a chromosome condition was irrelevant to their decision. This factor was not an NIPT-selection factor, meaning participants who selected NIPT were not significantly more

likely to consider termination of an affected pregnancy important to their decision than participants who did not select NIPT. Conclusions: Patients are faced with new decisions as NIPT is integrated into prenatal care. This study evaluated the top five factors most frequently rated important by participants about their prenatal testing decision and identified three NIPT-selection factors. While every patient should be counseled as a unique individual, the results from this study are observations that may help healthcare providers better understand patient perspective. This study reveals five factors important to patient decision-making regarding prenatal testing; of these, three factors (obtaining genetic information about the fetus as early as possible, having a test that provides more accurate information than other tests, and being prepared if the baby had a disability) were significantly influential in patient selection of NIPT.

Keywords: Noninvasive prenatal testing (NIPT), patient decision making, decision-making process, prenatal genetic testing

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