Intersex community perspectives on prenatal sex chromosome screening: “It silences intersex”

Intersex individuals and/or individuals with variations in sex characteristics (VSC)/differences in sex development (DSD), who will be referred to from this point forward as individuals with I/VSC, have sex characteristics that do not fit within the binary framework of sex. This community has historically been marginalized in healthcare due to the pathologization of intersex variations, including nonconsensual sex "normalizing" medical interventions. While previous research has explored the perspectives of individuals who are transgender and/or gender-diverse on counseling about fetal sex chromosomes by healthcare providers (HCPs), there is limited information on the recommendations of individuals with I/VSC for genetic counseling on prenatal sex chromosome screening. Sixteen semi-structured individual interviews were conducted virtually with members of the I/VSC community, a majority of whom identified as gender diverse, about their experiences in the United States and/or Canadian healthcare systems and their perspectives on how prenatal HCPs should counsel their patients on sex chromosomes, sex chromosome screening, and sex and gender. Participants were recruited through social media, and the majority resided in the United States. Using reflexive thematic analysis, four overarching themes were identified: (1) People with I/VSC face medical and societal discrimination; (2) Prenatal sex chromosome screening reinforces the sex binary; (3) HCPs have the potential to influence parental decision-making; and (4) HCPs should affirm sex and gender diversity. Participants expressed that there is a lack of HCP education on both intersex variations and gender diversity that has led to members of these communities experiencing a variety of harms. Our findings suggest that prenatal HCPs have a responsibility to educate themselves in order to provide patients with I/VSC and/or who are gender diverse, as well as their families, with appropriate care. Additionally, participants emphasized that systemic and societal change is necessary for ending the stigma and discrimination that individuals with I/VSC and/or who are gender-diverse face.