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Updated: May 21, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Transgender and gender diverse patients' experiences with pregnancy-related genetics discussions: A qualitative study
Jaime Schechner1, Kimberly Zayhowski2,3, Darius Haghighat2
1Master's Program in Genetic Counseling, Boston University Chobanian and Avedisian School of Medicine, Boston, Massachusetts, USA.
Abstract:
Reproductive healthcare experiences for transgender and gender diverse (TGD) individuals are often characterized by cisheteronormative biases and inadequate support. Despite growing recognition of the need for gender-inclusive care, there remains a dearth of research exploring TGD individuals' perspectives on pregnancy-related genetic discussions with healthcare providers. This study aimed to address this gap by investigating TGD individuals' experiences with pregnancy-related genetic discussions, focusing on the challenges they face and strategies for improving care. The study employed a qualitative approach, including demographic surveys and semi-structured interviews with questions centered on pregnancy-related genetic discussions, to gather data from 15 TGD participants. Data were analyzed using reflexive thematic analysis with a queer theoretical lens to identify key themes and insights. The findings revealed pervasive cisheteronormative biases in pregnancy-related genetics discussions, including providers misgendering patients during routine genetics explanations and conflation of sex and gender. Participants highlighted the lack of information on the effects of testosterone therapy on pregnancies and expressed discomfort in gendered clinic spaces. Participants advocated for gender-inclusive training for all healthcare staff and the adoption of affirming practices to create more inclusive healthcare environments. This study underscores the urgent need to address systemic biases and shortcomings in reproductive genetics healthcare for TGD individuals. By prioritizing gender-inclusive training and promoting affirming clinical environments, healthcare providers can work towards ensuring equitable access to reproductive and genetic healthcare for TGD patients.
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