Author ORCID Identifier

0000-0002-2205-5788

Date of Graduation

5-2022

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Meagan Choates

Committee Member

Blair Stevens

Committee Member

Syed Hashmi

Committee Member

Shannon Mulligan

Committee Member

Rebecca Lunstroth

Abstract

Non-Invasive Prenatal Screening (NIPS) provides a risk assessment for aneuploidies by utilizing cell-free DNA (cfDNA). Recently, it was recommended that NIPS be offered to all pregnant people regardless of a priori risk for aneuploidy. In the absence of an increased risk, alternative motives for electing NIPS, such as for fetal sex disclosure, may arise and result in a less informed decision about proceeding with NIPS. Therefore, our study aimed to characterize low-risk patients’ motivations for NIPS election, compare motivations between informed and uninformed decision makers, and determine whether electing NIPS for fetal sex disclosure had any bearing on informed decision making. A survey that included a validated measure of informed choice (MMIC) and questions to assess patients’ motivations for NIPS was offered at four UTHealth clinics post genetic counseling. It was found that 44% of participants made an uninformed decision about testing. Participants with private insurers were 5.92 times more likely to make an informed decision (95% CI =1.28-33.05), and participants that self-identified as Black were 9.64 times more likely to make an uninformed decision (CI=0.009-0.737). Informed decision makers scored avoiding invasive procedures higher (p= 0.007) and ranked doing what family/friends desire lower (p = 0.0048) than uninformed decision makers. While most participants scored receiving information about genetic conditions highest, 12% of participants reported fetal sex disclosure as a priority. However, this was not found to be associated with uninformed decision making. Instead, prioritizing fetal sex was associated with a younger age (p=0.049) and experience with NIPS in previous pregnancies (p=0.034). This study ultimately established shared motivations with the high-risk population, showed no association between fetal sex disclosure motivation and uninformed decision making, characterized participants prioritizing fetal sex, and emphasized the importance of complete pre-test counseling.

Keywords

NIPS, Non-Invasive Prenatal Screening, NIPT, Motivations, Fetal Sex, Informed Decision Making

Available for download on Saturday, April 29, 2023

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