Transgender and gender diverse patients' experiences with pregnancy‐related genetics discussions: A qualitative study

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.

What is known about the topic:

Reproductive healthcare for transgender and gender diverse individuals often lacks inclusivity, leading to misgendering and inadequate support during pregnancy‐related discussions. Existing literature highlights systemic challenges in accessing inclusive reproductive healthcare, including limited information on the teratogenic effects of testosterone therapy and discomfort in gendered clinic environments.

What this paper adds to the topic:

This study provides insights from TGD individuals on their experiences with pregnancy‐related genetic discussions, advocating for gender‐inclusive practices in reproductive healthcare. By exploring TGD perspectives, this research offers guidance for healthcare providers to address biases and improve care quality in reproductive healthcare settings.

1. INTRODUCTION

Gender reflects a person's inner sense of self as a man, woman, non‐binary person, or another gender (University of California, San Francisco, 2016; von Vaupel‐Klein & Walsh, 2021). Gender may not be outwardly apparent to others, and is shaped by societal, behavioral, and cultural expectations. An individual whose gender aligns with their assigned sex at birth is referred to as cisgender. Transgender refers to individuals who have a gender that differs from the sex assigned to them at birth. For example, a transgender man is a man who was assigned female at birth. Non‐binary individuals may identify with aspects of being both a man and a woman or their gender may exist entirely beyond these binary categories (University of California, San Francisco, 2016). Gender diverse is an umbrella term that describes the diversity of expression beyond the binary of the genders of man and woman, and this term encompasses transgender and non‐binary individuals (Tyrie et al., 2024). Cisheteronormativity is a social construct that reinforces cisgender and heterosexual identities as the dominant and default norms in society (Chevrette & Eguchi, 2020). Misgendering—an experience in which a person is mislabeled with a gender that does not align with their gender identity—is a prevalent manifestation of cisheteronormativity that erases gender diversity, perpetuates transphobia, and contributes to significant disparities in healthcare and other aspects of life.

In the United States, approximately 0.5% of adults and 1.4% of youths are transgender and gender diverse (TGD; Herman et al., 2022). As rates of TGD identification increase, transgender patients are being seen more frequently by pregnancy‐related healthcare providers (von Vaupel‐Klein & Walsh, 2021). Reproductive care, including preconception, pregnancy, and prenatal services, is typically attributed to cisgender women. However, many TGD people carry pregnancies (Moseson et al., 2020). The reproductive intent of TGD individuals is comparable to those of cisgender individuals; in a study of 50 transgender men, Wierckx et al. (2012) found that 54% desired to have children. Other studies revealed a growing trend of TGD individuals experiencing pregnancy (Besse et al., 2020; Brandt et al., 2019; Ellis et al., 2015; Hoffkling et al., 2017).

Fertility preservation is a relatively new branch of reproductive medicine that allows individuals to cryopreserve their gametes or embryos in order to enhance future fertility options (Birenbaum‐Carmeli et al., 2021). Many TGD patients seek to preserve their gametes before starting gender‐affirming treatments due to the impact these treatments may have on fertility (Birenbaum‐Carmeli et al., 2021). Previous research has demonstrated that the growing use of fertility preservation and Assisted Reproductive Technologies (ART) has facilitated increased pregnancy rates among TGD individuals (Cheng et al., 2019; Light et al., 2014; Maxwell et al., 2017).

Moreover, many TGD individuals undergo testosterone hormone replacement therapy (HRT) prior to conceiving. The effects of testosterone on fertility and pregnancy are not thoroughly understood. Some studies suggest that transgender men retain the ability to get pregnant after initiating testosterone therapy (Hahn et al., 2019; Light et al., 2014). However, given the conflicting literature on testosterones impact on fertility and fecundity, the World Professional Association for Transgender Health guidelines recommend that providers discuss family‐building goals and fertility preservation options with transgender men prior to the initiation of gender‐affirming HRT (Birenbaum‐Carmeli et al., 2021; Brandt et al., 2019; Hahn et al., 2019; Obedin‐Maliver & Makadon, 2016). Furthermore, no large‐scale human studies have explored the use of exogenous testosterone during pregnancy. Limited animal models, however, suggest that testosterone may masculinize female fetuses, resulting in “ambiguous genitalia” (Dean et al., 2012; Hahn et al., 2019). As a result, various guidelines, including those from the Centers for Disease Control and Prevention (CDC) and the Food and Drug Administration (FDA), advise against the use of testosterone during pregnancy due to inadequate safety data and the potential for androgenic effects on the fetus (Centers for Disease Control and Prevention, 2024; Hahn et al., 2019; Hoffkling et al., 2017; McCracken et al., 2022; U.S. Food and Drug Administration, 2018). Federal guidelines labeling testosterone as teratogenic reflect broader concerns of cisheteronormativity in the medical field and the pathologization of intersex traits (Haghighat et al., 2023). This pathologization has not only eroded bodily autonomy and perpetuated medical trauma for those with intersex traits, but also on TGD people by limiting their ability to make informed decisions about continuing exogenous testosterone use during pregnancy, despite the available data. Queer theory critiques the prevailing cisheteronormativity in the medical field by framing sex as multidimensional rather than confined to a binary.

In spite of these challenges, there has been a noticeable rise in pregnancies among TGD individuals. The growing presence of TGD patients in reproductive clinics underscores the urgent need for more inclusive prenatal care. Light et al. (2014) report that many TGD individuals choose to receive prenatal care from physicians, obstetricians, or family medicine physicians. Further, the actual obstetric care that TGD patients receive can be classified as routine (Brandt et al., 2019). TGD patients present with the same pregnancy conditions as cisgender women including preterm labor, premature rupture of membranes, and vaginal bleeding (McCracken et al., 2022). Furthermore, gender does not impact genetic carrier status, prenatal screening, fetal surveillance, or prenatal diagnosis (Brandt et al., 2019). Therefore, TGD patients should routinely meet with prenatal healthcare providers to discuss pregancy risks, such as miscarriage, aneuploidy, preeclampsia, gestational diabetes, intrauterine fetal demise, and preterm delivery (Brandt et al., 2019).

Due to cisnormative assumptions surrounding pregnancy and concerns about medical discrimination, many TGD patients choose to avoid hospital systems and receive at‐home midwifery care (Obedin‐Maliver & Makadon, 2016). For TGD individuals who receive prenatal care from a physician, most report that their provider had limited experience working with TGD patients and that their choices of providers were influenced by the providers' support of their desire for parenthood within the context of their genders (Ellis et al., 2015; Obedin‐Maliver & Makadon, 2016). Other studies have shown that many pregnancy‐related providers, including genetic counselors, feel unprepared to see TGD patients due to a lack of knowledge, data, and experience (Berro et al., 2020; Besse et al., 2020; Glessner et al., 2012; Greene et al., 2018; Sacca et al., 2019; Unger, 2015; Zayhowski et al., 2019). Ruderman et al. (2021) report that common prenatal genetic counseling techniques are often non‐inclusive, leading prenatal genetic counselors to fear offending their TGD patients. Due to a lack of provider comfort and experience, many TGD patients report unsatisfactory healthcare experiences and interactions with their pregnancy‐related providers (Hoffkling et al., 2017; Light et al., 2014).

Much of the current genetics literature related to TGD care is within the cancer genetics and ART space (James‐Abra et al., 2015; Rolle et al., 2022). To the authors' knowledge, no research examines the experiences of the TGD community regarding pregnancy‐related genetics discussions with a healthcare provider. Exploring the experiences of TGD patients in pregnancy‐related settings provides additional insight and knowledge that can be used to support research and improve clinical practices.

2. METHODS

This qualitative study consisted of a demographic survey and semi‐structured interviews with individuals who are transgender, non‐binary, and/or gender diverse. Interviews focused on experiences with healthcare providers discussing pregnancy‐related genetic testing and were analyzed using reflexive thematic analysis to generate themes. This research study was reviewed by the Boston University Medical Campus Institutional Review Board (Protocol H‐44138) and approved as an exempt protocol in October 2023. The first author was a genetic counseling graduate student at the time of data collection and analysis. The research team included genetic counselors with expertise in qualitative and transgender research. Two team members have experience working as prenatal genetic counselors with TGD individuals. In addition, two members of the research team are part of the LGBTQIA+ community. None of the authors are transgender.

2.1. Participants

Eligibility criteria for participants included if they were 18 years of age or older, currently, previously and/or planning to become pregnant, identified as transgender, non‐binary, or gender diverse, and had discussions about pregnancy‐related genetic testing with a healthcare provider within the past 5 years. Participants were also required to speak English and have access to a device compatible with a video call. Exclusion criteria included being assigned male at birth.

Participants were recruited via a flier shared on social media through Reddit, Twitter, LinkedIn, and transgender pregnancy‐focused Facebook groups. Participants were purposively selected for interviews to maximize diversity across gender, age, race/ethnicity, and geographical location (Cresswell & Poth, 2018). Eligible participants were emailed in batches. The researchers assessed the study's objectives, the specificity of the participants enlisted, and the depth of the interview conversations. Subsequently, they determined to halt participant recruitment after reaching a total of 15 interviewed individuals, believing that this cohort offered a sufficient level of informational power (Malterud et al., 2016). This conclusion was based on the study's specific and narrow focus, the specificity of the participant cohort to the research objectives, and the high quality of the interview dialogue (Malterud et al., 2016). All interviewed participants received a $25 Amazon gift card and only had contact with researchers during the timeline of study.

2.2. Instrumentation

This study consisted of two parts: a survey and a semi‐structured interview. The survey (Appendix S1) was created on Qualtrics and consisted of (a) study consent form, (b) eligibility criteria, and (c) demographic information. Participants interested in being contacted for an interview were asked to submit their email address upon completion of the survey. Survey responses were collected from October 2023 to February 2024.

Semi‐structured interviews took place via Zoom and lasted between 15 and 75 min (average of 48 min). The interview guide was informed by queer theory to differentiate sex from gender and challenge the cisheteronormative assumptions often pervasive in medicine (Watson, 2005). Questions were adapted from two distinct interview guides developed to examine transgender patients' experiences with cancer genetic counselors and prenatal genetic counselors' experiences with transgender patients respectively (Rolle et al., 2022; Ruderman et al., 2021). Additional interview questions were developed based on a review of the literature regarding LGBTQIA+ patient's experiences with healthcare providers in various disciplines. The interview guide was reviewed with a transgender genetic counselor and piloted with two transgender men.

The final interview guide (Appendix S2) had questions focusing on (a) topics that arise in pregnancy‐related genetic discussions, (b) positive and negative experiences with pregnancy‐related healthcare providers, and (c) recommendations regarding how providers should counsel transgender and gender diverse patients. All interviews were conducted by the first author. Interviews were audio‐recorded with each participant's permission, and participants were reminded that they could skip any question or end the interview at any time. The de‐identified interviews were transcribed verbatim by the first author or third‐party transcription service and manually reviewed for accuracy. Throughout the interview and data analysis process, the first author kept a journal of her impressions, thoughts, and preliminary study themes. Interviews took place between December 2023 and February 2024.

2.3. Data analysis

Data analysis followed the principles of reflexive thematic analysis in order to synthesize the participants' experiences and perspectives (Braun & Clarke, 2006). Reflexive thematic analysis is an analytical approach that develops both latent and semantic themes from codes (Braun & Clarke, 2014). Our research centered around understanding pregnancy‐related genetic discussions that occur between TGD individuals and their healthcare providers, which have been absent from prenatal literature. Reflexive thematic analysis is aligned with the positionality of the authors who utilized a constructivist paradigm, acknowledge the subjective nature of qualitative analysis, and value a reflexive frame in the coding and thematic construction process (Wainstein et al., 2023). The authors applied a queer theoretical lens to engage with the data. Queer theory posits that an individual's identity is not a fixed truth but a dynamic concept with the capacity to evolve over time (Watson, 2005). This theoretical perspective guided our analysis, acknowledging the fluidity and complexity inherent in identities.

In the initial coding process, eight transcripts were read, annotated, and coded by the first author using NVivo software. The research team reviewed and discussed the preliminary codes as recruitment of additional participants continued. Seven more participants were interviewed, and the first author coded the remaining transcripts independently. As interviews were conducted, codes were consistently reviewed and developed into initial themes by the first and last author. Through multiple phases of discussion, the entire research team refined the themes, selected representative quotes, and wrote the manuscript draft.

3. RESULTS

3.1. Participant characteristics

To enhance the diversity of the study sample, 21 interested participants were purposively selected from survey responses and invited to interview. Of those invited, 15 participants responded and completed an interview. Participants ranged in age from 23 to 37 years old. Participants had the option to choose multiple genders, races/ethnicities, and healthcare providers with which they had pregnancy‐related genetics discussions. Together, seven participants were non‐binary, five were transgender men or transmasculine, four were genderqueer, two were gender nonconforming, one was a woman, and one was questioning. Nine participants identified as White, five as Black or African American, one as East/Southeast Asian, and one as Hispanic. Six participants met with a genetic counselor, five with an obstetrics doctor, four with a primary care provider, two with a nurse practitioner, two with a midwife, two with a reproductive endocrinologist, and one with a maternal fetal medicine specialist. Eleven participants engaged in pregnancy‐related genetic discussions while actively pregnant and four participants had these discussions prior to conception. Further demographic information can be found in Table 1.

TABLE 1.

Participant demographic information.

Participant characteristics	n = 15
Age
23–28	7
29–34	4
35–40	4
Geographical region
Northeast	7
Southeast	4
Midwest	2
West	1
Other	1
Pronouns a
Them/Them/Theirs	8
He/Him/Him	6
She/Her/Hers	2
Zie/Zim/Zeir	1
Gender a
Non‐binary	7
Man	5
Genderqueer	4
Gender non‐conforming	2
Woman	1
Questioning	1
Transgender experience
Yes	10
No	3
Unsure	2
Sex assigned at birth
Female	15
Race/ethnicity a
White	9
Black, African American, African	5
Asian	1
Hispanic, Latine, Spanish	1
Pregnancy status at time of counseling
Actively pregnant	11
Preconception	4
Type of pregnancy‐related provider a
Genetic counselor	6
Obstetrics doctor	5
Primary care provider	4
Nurse practitioner	2
Midwife	2
Reproductive endocrinologist	2
Maternal fetal medicine specialist	1
Baseline knowledge of genetics
Some in high school	7
College (major‐related)	6
Graduate coursework	1
None	1

^a Participants had the option to select more than one answer.

3.2. Thematic analysis

We identified four key themes linking gender with experiences of pregnancy‐related genetics care. First, TGD patients seek information about testosterone as a critical aspect of their pregnancy care. Second, cisheteronormative biases pervade pregnancy‐related genetics care. Third, TGD patients emphasize affirming practices. Finally, reflecting on their experiences of care, TGD patients describe how their gender identity is often disregarded in pregnancy‐focused clinics.

3.3. Theme 1: TGD patients seek information about testosterone as a critical aspect of their pregnancy care

Many participants reported taking exogenous testosterone therapy for years prior to becoming pregnant. Although past use of testosterone did not hinder participants from achieving pregnancy, many participants expressed a need for information concerning the teratogenic effects of testosterone. Participant 2 stated, “I was concerned about the medication and hormone treatment that I'm currently undergoing. Is there any risk of it affecting my pregnancy genetically or my child genetically?” Other participants emphasized that the teratogenic effects of testosterone were central to their prenatal genetic discussions. Participant 7 asked, “What other options [do] I have as far as gender affirming medication? Is there any room for playing with that within the pregnancy sphere?”

While several participants expressed a desire to be informed about the impacts of testosterone on pregnancy, many noted that their prenatal provider struggled to offer comprehensive answers due to the scarcity of research on the teratogenic effects of testosterone:

With the fears that my family has that our baby will be messed up because I've been on [testosterone]. … We could have used a little bit more reassurance that we were just the average person. That there is nothing different about me, … that from [the providers] experience, everything was fine. (Participant 15)

Other participants described how their prenatal providers were uninformed about testosterone and its potential impacts on pregnancy:

There was actually a discussion of me continuing my hormones and that is something that you are told from the jump with any other healthcare provider if you get pregnant stop immediately. … They're just not educated on it. They were very respectful of my identity. They were very at a loss with my HRT. (Participant 5)

3.4. Theme 2: Cisheteronormative biases pervade pregnancy‐related genetics care

3.4.1. Binary language in genetics care

All participants reported that binary language was embedded into their pregnancy‐related genetic discussions. Many participants described how their provider consistently misgendered them during genetics explanations and discussions. Participant 4 shared, “I would be misgendered in the way that [the provider] would want to use maternal genes and paternal genes.” Other participants also conveyed frustration regarding their provider's use of gendered terminology, such as “maternal,” during genetics discussions:

The phrase maternal [or] maternity, … do I think it's not okay? Yeah. Just change the terms here and we would be fine. We could say ‘pregnant people,’ ‘birthing people.’ We know so many phrases that we can use that are better. (Participant 6)

In addition to using binary language during genetic discussions, many participants described receiving supplementary written genetic materials from their prenatal providers that contained inappropriately gendered language. Participant 5 described, “When you get all your pamphlets it is just very mom, mom, mom. And it's very targeted towards women in pregnancy.” Other participants voiced frustration with the pervasive binary language found in all handouts provided by healthcare providers to expectant parents:

[The language] has not been updated in way too long. I'm reading [the binder they gave me], and I know that some of the providers there are way more up to date than this, but why are you making me read this garbage? (Participant 12)

Participants over the age of 35 reported that their providers used the terminology “advanced maternal age” to discuss age‐related risks during their genetics discussions. However, several participants expressed their disdain for the term. Participant 10 stated, “It's a terrible term. I hate it. It's all bad. It's maternal but it's also advanced. All of it just seems very backwards in terms of where pregnancy is at in the 21st century.”

Alongside discussions about binary language, certain participants highlighted instances where their providers made binary assumptions during prenatal appointments. One participant voiced frustration with their provider's binary assumptions about the method of conception for their pregnancy:

There are different paths to becoming pregnant. I've had doctors talk to me about insemination versus having a couple who has a penis and a vagina. There are different ways to talk about how pregnancy happens and not just mom and dad language. (Participant 9)

3.4.2. Conflating sex and gender

Participants reported that cell‐free DNA screening was offered to them regardless of their age. However, during these discussions, several participants reflected on how their providers conflated sex and gender. Participant 14 said, “Sex and gender are the same thing to [my provider].” Participant 6 expanded on how providers often have difficulty differentiating between these distinct concepts: “The language primarily used is sex. Although it sometimes gets intertwined with gender. Which we know that those are different things. But I also know that other people don't know that those are different things.”

A few participants emphasized that following cell‐free DNA screenings, providers overemphasized the sex of the fetus. Participant 10 described: “That was the first time that sex really came up in pregnancy. And I can see that being the start of when there was an overemphasis on biological sex and conflating that with gender.”

3.5. Theme 3: TGD patients emphasized affirming practices

Some participants expressed feeling at ease during their pregnancy‐related genetic discussions because their provider employed gender‐affirming practices. A few participants shared how their provider made them feel validated through attentive listening. Participant 8 described, “It's the fact that [the provider] asked the right questions and was a good listener. She was very intentional about making me feel like I wasn't crazy and I wasn't just being difficult.”

Other participants stated that their provider offered affirming care by directly inquiring and consistently employing preferred verbiage. Participant 5 explained: “She asked me what's the preferred verbiage I want her to use. The moment she saw [in] my paperwork that I had my top surgery, she never once brought up breastfeeding. She uses common sense.”

A few participants also highlighted that their care team provided respectful care by consistently using correct pronouns and gender inclusive language. Participant 4 described, “There wasn't even the slightest hiccup or slip‐up of my pronouns. [The provider] didn't use any gendered terms like maternal or any gendered terms that we typically see whenever it comes to pregnancy.”

Many participants felt affirmed by working with providers who had experience caring for TGD patients. Participant 3 expressed, “[My provider] understood me and had a sense about the journey of us non‐binary people.”

A few participants reported feeling validated by their provider's non‐judgmental approach to care. Participant 13 reported, “I felt very safe with [the genetics provider] knowing my identity because he didn't judge. He didn't criticize. So there's no reason for me getting scared.” Other participants were pleasantly surprised by the absence of overt discrimination from their provider. Participant 3 stated, “She didn't discriminate [against] me. She didn't feel I am not fit [to parent]. I think that was enough.” In addition, Participant 8 expressed, “[My provider] was very intentional about making sure that I felt like I wasn't being stigmatized. … But even with her it's still a work in progress.”

Other participants conveyed feeling validated when their provider acknowledged the existing limitations within TGD healthcare:

The provider did a really good job of acknowledging the limitations of the system while also being like, ‘I'm going to do what I can to help you, and I'm really excited to help you. … I'm sorry that you're the pioneer in this,’ which is cool. (Participant 11)

3.5.1. TGD patients want all clinic staff to get gender‐inclusive education

Many participants had received care from clinicians trained in TGD healthcare before becoming pregnant. However, several noted a lack of gender‐inclusive training among their pregnancy‐related providers and advocated for additional training on caring for TGD patients. For example, some participants felt judged by their providers and felt frustrated with the expectation of having to prove their readiness for parenthood:

I would love to educate them or [for] them to learn that we are capable and not at any point lesser. For us to become pregnant means we have thought of it and came up with a decision to do it. It's something that we have decided we are ready for. (Participant 3)

Alongside increased clinician training, many participants also conveyed a desire for expanded gender‐inclusive education of all clinic staff. One participant articulated their wish for clinicians to undergo training that promotes the normalization of pregnancies among transgender men:

We're just like any other patient. We're just patients. We're not spectacles. I wish there wasn't such a shock factor to it. … I just wish [prenatal care providers] would just educate themselves more in general. On every aspect of it, from HRT to just looking at studies on pregnant trans men. It's not as big of an anomaly and it's not as weird as people end up reacting and treating me for it being. It's normal. (Participant 5)

Several participants described uncomfortable interactions with clinic support staff such as front desk staff, ultrasound technicians, and nurses:

What I would change is the training of the people who work there, front desk people, ultrasound techs, nurses. I don't need to be called mom every time I come to get my blood pressure taken. … It goes beyond the midwives or OBs that we see, but everybody who works in the office I wish could just be more informed. (Participant 12)

3.6. Theme 4: Gender is often disregarded in pregnancy‐focused clinics

3.6.1. Discomfort in pregnancy‐related settings

Many participants expressed discomfort receiving reproductive healthcare from women‐focused clinics. A few participants described that this discomfort arises from feeling like an outsider in pregnancy clinics. Participant 2 stated, “The whole setting of the hospital and the counseling was designed to fit cisgender people. … I felt a little bit out of place. I felt I was in a place I wasn't meant to be.”

Several participants also reported challenges in the waiting rooms of their pregnancy‐related clinics. Many participants expressed discomfort with the decor of waiting rooms and the absence of LGBTQIA+ representation in these spaces:

There's a whole wall of pictures of people with their babies. They're all straight people. The art is a man, a naked cis man and a naked cis woman presumably kissing. It's such a straight space. It would've been nice to feel there was a little more diversity represented. (Participant 11)

3.6.2. Fear of discrimination

Many participants expressed that they did not feel comfortable sharing their gender with their providers due to previous experiences with healthcare discrimination. Several participants expressed apprehension about disclosing their gender for fear of potentially being denied access to care:

In that moment, I felt that she was not comfortable with my gender identity because I noticed the change in her mood. Those instances sometimes create this fear. And it creates you feeling uncomfortable revealing your gender identity to the medical practitioner in case it could limit the help you could get. (Participant 1)

Several participants conveyed apprehension about disclosing their gender, fearing that it might overshadow the primary purpose of seeking medical care and dominate medical conversations:

Being able to have my gender in the room … and having that acknowledged and also being able to focus on other aspects and not having to worry about that aspect of, ‘How much can I share? How much of me can I bring?’ (Participant 7)

Other participants also described hesitance in disclosing their gender due to having limited information about the provider they were seeing:

When I was filling out all the forms ahead of time, they asked questions about pronouns, gender identity, and your assigned sex at birth. I actually think I did not fill out the gender question on purpose correctly because I know nothing about this provider. (Participant 12)

3.6.3. Information over identity

A few participants stated that they were unable to disclose their gender due to provider assumptions and the fast‐paced nature of prenatal appointments:

My OB just made a lot of immediate assumptions about gender and because our appointments were always so quick, I didn't really feel there was space to say, ‘Let's slow down. I need you to understand a little bit more about who I am before you proceed.’ I would've liked to have done that, but it never felt like the right time. (Participant 10)

Other participants discussed how providers did not always recall participants' gender identities:

They would use my dead name even after asserting it a little bit in the beginning. I think they're just so busy that they don't remember and it's just so awkward to bring it up every time that it was just assumed that I'm a woman. (Participant 14)

Many participants refrained from correcting providers who misgendered them. Some participants described prioritizing gaining medical information over asserting their gender. One participant recounted that during an important genetics discussion, they deliberately instructed their provider to disregard their gender to ensure clarity in the medical discussion:

I was like, ‘Okay, just forget about all the pronoun stuff. I just need the information from you.’ It was clear he was stumbling and getting flustered and this is a really important conversation and I need to know what is happening. (Participant 9)

Other participants discussed refraining from correcting providers because they wished to avoid complicating the appointment:

If you asked, ‘Do you identify as male [or] female?’ And then you're like, ‘No, I am non‐binary.’ And then she's like, ‘Can I just write female?’ And then you just say, ‘Yes’ because you're trying to not make it complicated. (Participant 8)

A few participants expressed how they did not correct providers due to having low expectations of care of the medical system:

The medical system is in a lot of ways fairly archaic. And we're stuck in their ways. That's just how I rationalize it. If I surround myself with providers who I know individually treat me with respect and care, then that is fine and that is good for me. I'm not here to seek to change the whole system. (Participant 6)

4. DISCUSSION

To the author's knowledge, this is the first study investigating TGD individuals' perspectives regarding pregnancy‐related genetic discussions they have had with healthcare providers. Participants reflected on how reproductive clinics are particularly cisheterdominant leading many of their providers to consistently make cisnormative assumptions during genetic discussions. Participants also emphasized the absence of affirming reproductive environments and suggested strategies to enhance inclusivity during genetic discussions. Increasing clinicians' awareness of the current deficiencies of TGD reproductive care has the potential to influence affirming care practices and ultimately the clinical care and well‐being of TGD individuals.

4.1. Exclusionary practices in pregnancy‐related genetics discussions

The majority of participants were negatively impacted by their provider's cisheteronormative biases during pregnancy‐related genetic discussions. Specifically, participants reported their providers misgendering them during routine genetics explanations by using terms like “mom” or “advanced maternal age” when discussing aneuploidy risk. Past research has indicated that reproductive clinics are inherently binary and that prenatal providers commonly use language that caters to pregnancies in cisgender people (Besse et al., 2020). Ruderman et al. (2021) described that genetic counselors acknowledge the incorporation of binary language into their prenatal counseling sessions and recognize that commonly used gendered genetics terminology is not applicable to TGD patients. Study participants highlighted that the use of gendered language is common practice of all pregnancy‐related providers. When providers misgender TGD individuals, it can exacerbate feelings of distress and gender dysphoria (Baldwin et al., 2018; Hoffkling et al., 2017; MacDonald et al., 2016). TGD individuals propose that using gender‐inclusive terms like “pregnant person” or substituting “maternal” with “parental” when discussing age‐related risks can make these commonly used genetic terms more inclusive for TGD patients seeking care at reproductive clinics (Baldwin et al., 2018; Barnes et al., 2020; Ruderman et al., 2021).

Many participants reported that their providers frequently conflated the terms sex and gender throughout their pregnancies. The most notable instance of conflation occurred during discussions regarding cell‐free DNA screening for sex chromosome aneuploidies (SCA). This finding corroborates earlier research indicating that providers often interchange sex and gender which contributes to gendered discussions regarding sex chromosome screening (Stevens et al., 2023; Tyrie et al., 2024). Queer theory and modern biological understandings acknowledge that gender is not determined solely by sex (American College of Obstetricians and Gynecologists, 2021; Watson, 2005). Prenatal providers, including genetic counselors, who conflate sex and gender during SCA discussions are directly contributing to genetic essentialism and the discrimination of TGD and intersex people (Llorin et al., 2024; Llorin & Zayhowski, 2023; Stevens et al., 2023). Educating providers and patients on the distinction between sex and gender can reduce conflation, thereby aiding in the deconstruction of rigid gender binaries often encountered in reproductive spaces (Berro & Zayhowski, 2023; Llorin & Zayhowski, 2023; Moseson et al., 2020; Tyrie et al., 2024). The ethical imperative of accurately distinguishing between sex, gender, and sex chromosomes has recently been highlighted by the National Society of Genetic Counselors in a Position Statement (National Society of Genetic Counselors, 2024).

Some participants emphasized that they sought out pregnancy‐related genetics discussions specifically to address the impacts of exogenous testosterone. However, the use of testosterone in pregnancy remains an understudied medical topic, and the current literature regarding its impact on fertility and pregnancy is both scarce and conflicting (Ellis et al., 2015). Consequently, participants reported that their providers were unprepared to counsel TGD individuals on the impact of gender‐affirming hormone therapies on pregnancy, often providing them with limited, vague, or incorrect information. Given that most cisgender women do not utilize HRT in pregnancy, the use of exogenous testosterone among TGD patients deviates from the cisnormative approach to pregnancy care, making it a relatively uncommon referral indication for providers. As a result, genetic counselors and other pregnancy‐related providers receive limited training on testosterone and report feeling uncomfortable counseling on its impacts on pregnancy (Besse et al., 2020; Lai et al., 2020; Pfeffer et al., 2023; Ruderman et al., 2021; Unger, 2015).

Current medical guidelines advise against the use of testosterone during pregnancy due to inadequate safety data and the potential for androgenic effects on the fetus (Hahn et al., 2019; Hoffkling et al., 2017). Exposure to exogenous testosterone during pregnancy can result in varying degrees of virilization of the genitalia, potentially leading to intersex variations (Dean et al., 2012). The medicalization of intersex variations, particularly the term “ambiguous genitalia,” highlights the discomfort with intersex variations within healthcare settings. Historically, non‐binary genitalia have been pathologized, leading to unnecessary interventions to enforce binary norms (Haghighat et al., 2023). This stigma is evident in current medical guidelines that contraindicate testosterone use during TGD patients' pregnancies, implying that intersex traits are undesirable due to concerns about potential androgenic effects on the fetus. Queer theory challenges these cisnormative and heteronormative practices by advocating for the acceptance of bodily diversity and questioning why certain bodies are deemed problematic or in need of correction (Watson, 2005). When counseling TGD patients, providers should begin by reviewing current guidelines and practices related to exogenous testosterone use as part of their preparation. During the session, it is essential to openly discuss the limitations of existing literature and clearly outline both the known and unknown effects of testosterone during pregnancy, while also being careful to avoid pathologizing intersex traits. This approach provides TGD patients with accurate and comprehensive information, empowering them to make informed decisions about their pregnancy and helping to reduce the stigma surrounding intersex variations.

4.2. Creation of affirming clinical environments

A majority of participants expressed the desire for all staff who interact with patients to undergo gender‐inclusive training. Previous research has demonstrated that clinicians, including genetic counselors, do not typically receive gender‐inclusive training as part of their medical school curriculum and must take the initiative to self‐educate and actively seek out information regarding LGBTQIA+ health (Burgwal et al., 2021; Ernst et al., 2023; Glessner et al., 2012; Greene et al., 2018; Ruderman et al., 2021; Unger, 2015). Consequently, many providers lack cultural awareness with TGD patients leading to negative healthcare experiences (Besse et al., 2020). Some participants reported that providers struggled with gender affirming language, which affected the clarity of medical information. Consequently, participants felt forced to accept misgendering and non‐inclusive language to ensure clear communication of their health information. However, clinicians who receive additional gender‐inclusive training report higher rates of self‐perceived skills and confidence in working with TGD patients (Burgwal et al., 2021; Hanssmann et al., 2008; Lelutiu‐Weinberger et al., 2016). Enhanced gender‐inclusive training for providers during their clinical education and through voluntary opportunities is vital for reducing the discrimination of TGD patients.

Many participants also advocate for clinic support staff, including front desk receptionists and ultrasound technicians, to receive gender‐inclusive training. Research has shown that negative interactions with administrative staff, such as receptionists misgendering patients or using their deadname, contributes to an unwelcoming and unsafe clinical environment for TGD patients (Noyola et al., 2021). Studies that have implemented gender‐inclusive training for all patient‐facing staff have found that administration staff report enhanced trans‐affirmative knowledge, practices, and positive patient interactions (Noyola et al., 2021). Administrative and clinic support staff play a critical role in the functioning of pregnancy‐related clinics and in providing affirming patient care. Therefore,it is essential that they are also included in gender‐inclusive education and training. As dedicated patient advocates, genetic counselors are uniquely positioned to help lead vital discussions with clinical leadership and drive meaningful change within their healthcare environments.

Some participants did not disclose their gender to their provider(s) for fear of discrimination. Prior research has shown that many TGD patients avoid healthcare institutions due to anticipated discrimination (Kachen & Pharr, 2020; Kcomt et al., 2020). TGD individuals report that their decision to disclose their gender to providers is influenced by factors such as the relevance of gender information to the clinical encounter and the quality of the patient‐provider relationship (Friley & Venetis, 2022; Ogden et al., 2020). It is crucial that providers understand TGD identities and utilize trauma‐informed care when working with TGD patients. Trauma‐informed care empowers genetic counselors and other providers to acknowledge the potential for past traumas of TGD patients related to discrimination, stigma, or experiences of marginalization and is pivotal in establishing affirming clinical environments (Berro & Zayhowski, 2023; Ramos, 2021). The current lack of sensitivity to TGD identities has the potential to worsen health disparities among this patient population and contribute to their continued avoidance of care.

Some participants stated that they were unable to disclose their gender due to the face‐paced nature of prenatal appointments. Research has shown that many TGD patients have to invest time during clinical encounters to educate their providers about their gender and specific health requirements (Baldwin et al., 2018). Given the rapid‐paced nature of prenatal clinics and providers' assumptions about a patient's gender, TGD patients often do not have the opportunity to disclose their current gender during appointments. TGD individuals have also expressed that it is the responsibility of providers to inquire about gender and pronouns at the beginning of their appointments (Barnes et al., 2020; Eisenberg et al., 2020; Patel & Sweeney, 2021). One study participant encouraged providers to prioritize allocating time at the start of appointments to inquire about gender and verify information provided by patients on clinic intake forms. This proactive approach may support disclosure for patients who would like their providers to know their genders.

Some participants emphasized affirming practices employed by their providers, such as attentive listening, employing gender‐inclusive terminology, and respecting their gender. Moreover, participants expressed surprise when providers refrained from actively discriminating against them, demonstrating the broad pervasive lack of awareness and sensitivity among providers regarding the needs and challenges of TGD patients in healthcare settings. These findings contribute to existing literature that delineates TGD‐affirming clinical practices related to pregnancy (Besse et al., 2020; Hoffkling et al., 2017; Lapinski et al., 2018; Moseson et al., 2020). Many TGD patients report experiencing discrimination and transphobia during genetic counseling discussions, resulting in low expectations of care from genetic counselors (Rolle et al., 2022; Valentine et al., 2023). While some participants reported positive experiences, the majority of the affirming practices appreciated by these individuals may be perceived as mundane, or expected, by those who are not TGD. Normalizing the use of affirming practices for all patients is essential to ensure a welcoming clinical environment.

Many participants expressed feeling discomfort in pregnancy‐related clinics because of the systemically gendered nature of these environments. This result echoes many studies where TGD individuals reported feeling like outsiders when receiving care in clinics titled, “Women's Health,” while noting the binary decoration of waiting rooms, absence of gender‐neutral restrooms, and lack of gender inclusive language on clinic intake forms (Ellis et al., 2015; Hoffkling et al., 2017; Moseson et al., 2020; Ruderman et al., 2021). Expanding on the representation of genders and sexualities within reproductive spaces is essential to address the institutional erasure experienced by many TGD patients. These efforts may promote more affirming clinical spaces for TGD patients.

4.3. Study limitations

Several limitations should be acknowledged when interpreting the findings of this study. First, participants were within the 23–37 age range, thus limiting the application of these findings to those younger than 23 and older than 37. Second, recruitment bias may also have been present as all participants were recruited via social media. Third, self‐selection bias could be present, as participants who held strong opinions or concerns about pregnancy‐related genetics healthcare may have been more inclined to participate in this study. Fourth, we recognize the potential for social desirability bias in the interviews. Since the interviewer is not TGD, which was disclosed at the start of the interview, participants may have been more inclined to provide answers that align with perceived expectations of the interviewer. This bias has the potential to compromise the authenticity of the information collected.

4.4. Future directions

Future research directions should encompass several key areas highlighted by these results. First, there is a pressing need for further investigation into the teratogenic impacts of exogenous testosterone, providing essential insights for clinical guidance in managing pregnancies involving individuals receiving testosterone therapy. Second, future research should delve into the complex factors influencing TGD individuals' decisions regarding the disclosure of their gender to genetics professionals, shedding light on barriers to communication and opportunities for improvement in healthcare interactions. Third, additional research is warranted to develop and refine strategies for providing gender‐affirming care to healthcare providers and support staff, ensuring that reproductive healthcare settings are inclusive and responsive to the needs of TGD patients. Collaboration with TGD communities and advocacy groups will be essential in shaping research agendas that accurately reflect the needs and experiences of TGD individuals, ultimately driving meaningful improvements in reproductive healthcare delivery and policy.

5. CONCLUSIONS

This study highlights the urgent need to address the systemic biases and shortcomings in reproductive healthcare faced by TGD individuals. The pervasive cisheteronormative biases in clinics lead to misgendering and inadequate support during pregnancy‐related genetic discussions. To bridge this gap, prioritizing gender‐inclusive training for healthcare providers and support staff is crucial. Future research should delve into understanding the impacts of gender‐affirming therapies on reproductive health and improving disclosure practices. By taking decisive steps towards inclusivity, we can improve reproductive healthcare for TGD individuals.

AUTHOR CONTRIBUTIONS

Jaime Schechner: Conceptualization, methodology, formal analysis, investigation, resources, data curation, writing – original draft, writing – review and editing, visualization, project administration, funding acquisition. Kimberly Zayhowski: Conceptualization, methodology, writing – original draft, writing – review and editing, visualization, supervision, project administration, funding acquisition. Darius Haghighat: Conceptualization, methodology, writing – review and editing, supervision. Maggie Ruderman: Conceptualization, methodology, data curation, writing – original draft, writing – review and editing, visualization, supervision, project administration, funding acquisition.

CONFLICT OF INTEREST STATEMENT

Jaime Schechner, Kimberly Zayhowski, Darius Haghighat, and Maggie Ruderman declare that they have no conflicts of interest.

ETHICS STATEMENT

Human studies and informed consent: This research study was reviewed by the Boston University Medical Campus Institutional Review Board and was granted approval as an exempt study in October 2023 (Protocol H‐44138). All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Verbal informed consent was obtained from all participants prior to their inclusion in this study.

Animal studies: No non‐human animal studies were carried out by the authors for this article.

Supporting information

Appendix S1

Appendix S2

Schechner, J. , Zayhowski, K. , Haghighat, D. , & Ruderman, M. (2025). Transgender and gender diverse patients' experiences with pregnancy‐related genetics discussions: A qualitative study. Journal of Genetic Counseling, 34, e2018. 10.1002/jgc4.2018

DATA AVAILABILITY STATEMENT

Research data are not shared due to the remote risk of re‐identifying a participant.