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Date of Award

5-2023

Document Type

Thesis - Campus Access Only

Degree Name

MS in Human Genetics

First Advisor

Claire Davis, MS, CGC, PhD

Abstract

In the past decade, non-invasive prenatal screening (NIPS) using cell-free fetal DNA has become ubiquitous as a screening tool for fetal aneuploidy and sex chromosomes. Provider discussions and public perceptions of sex and gender uniquely impact transgender and gender diverse (TGD) individuals, and existing NIPS guidelines lack recommendations regarding how to discuss sex and gender prenatally. The aim of this exploratory qualitative study was to examine TGD individuals’ opinions regarding fetal sex chromosome disclosure sessions. Twelve semi-structured virtual interviews were conducted with TGD individuals regarding their perspectives on the discussion of fetal sex chromosomes by healthcare providers within the prenatal setting. Interviews were coded and analyzed using a reflexive thematic approach, generating four major themes: 1) Current practices in prenatal care exclude gender diverse people; 2) Providers’ responsibility to de-gender discussions of sex chromosomes in prenatal care; 3) Providers’ responsibility to acknowledge gender diversity; and 4) Providers influence on societal perceptions of sex and gender. More guidance is needed from professional societies regarding best practices for healthcare provider discussions of sex chromosomes, sex, and gender. Participants recommended healthcare providers educate patients about sex chromosomes and their relevance to health while avoiding the conflation of sex and gender terms. Additionally, there is an acute need for trans-inclusive prenatal healthcare. Ultimately, healthcare providers and organizations are in a prime position to deconstruct rigid gender binaries and promote societal inclusion of TGD people.

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