Let’s talk about (prenatal) sex (chromosomes): Understanding opportunities for gender inclusive health care provision and parent education

The purpose of this project is to understand the current landscape of disclosure of Non-Invasive Pregnancy Testing (NIPT) results from the provider, patient, and stakeholder perspective and to generate ideas for an intervention tool kit to be tested in a proceeding project. This project has 3 objectives: 1) to determine the provider knowledge, attitudes, and current practice around disclosing sex-chromosome results in the clinical setting; 2) to identify parent and stakeholder desires for counseling and shared decision making; and 3) generate an actionable list of “good practices” and content for future development of a tool kit that can be hypothesis tested. These objectives center the interests and needs of the partners and reflect collective brainstorming and values-based discussions. We will conduct a provider survey, as well as stakeholder and parent focus groups and individual interviews (some of which will be enhanced by simulation - e.g. we will simulate a virtual visit and analyze provider-patient education and language). We will collaborate with community partners (Encircle) to identify stakeholders and patients, and recruit providers and patients from the UHealth clinics, as well as providers from federally qualified health centers in the region. The data collected from this pilot grant will be used as preliminary data to expand this project into a competitive proposal of an implementation science R01 through the NIH (e.g. NINR or AHRQ) to test a provider tool kit.

Current Status

2025-02-03
With the increased availability of cell-free DNA (cfDNA) testing in prenatal care, a broader range of healthcare providers is engaged in disclosing fetal sex chromosome results. The research at hand investigates healthcare providers' views and practices concerning cfDNA testing, their involvement in clarifying the distinctions between sex and gender during prenatal care, and patients experiences with the process. In this multi-method study, which included a quantitative survey with providers and qualitative focus groups with patients, we assessed providers’ beliefs and practices about disclosure, and patients’ expectations for, and experiences receiving, cfDNA results. We found that, out of 626 provider survey respondents, 80% agreed that it is no longer medically accurate to equate XY with male and XX with female. However, most providers still referred to fetuses as “boy” or “girl,” with a minority using gender-neutral terms. Exploratory focus groups with eight patients revealed that there was confusion about genetic language used by providers, that patients felt unprepared to receive sex-chromosome results that were not clear cut, and that they experienced social pressure to communicate about their pregnancies in terms of binary gendered language. Implications for cfDNA testing disclosure practices that balance patient-centeredness and medically accurate information is discussed.