There’s a specific thrill that comes with calling patients with normal non-invasive prenatal screening (NIPS) results. Often these conversations shift to focus on gender based on the predicted fetal sex. The proclamations “You’re having a girl!” and “You’re having a boy!” are met with cheers, laughter, and joyful tears by expectant parents.

While these conversations may seem innocuous, they reinforce damaging stereotypes and misconceptions about gender. As The American College of Obstetricians and Gynecologists now recommends all pregnant people be offered NIPS, these ‘gender’ conversations are only increasing. As some of the first providers to discuss fetal sex with patients, genetic counselors must consider how to deliver this information in an inclusive, thoughtful, and accurate manner.

THE PROBLEM WITH PRENATAL SCREENING FOR ‘GENDER’

​​Suggesting that prenatal sex chromosome screening can determine gender is harmful because it reinforces bioessentialism, or the belief that an individual’s characteristics (personality, intelligence, gender, etc.) are exclusively defined by human genetics. Bioessentialist arguments have bolstered eugenics, racism, sexism, homophobia, and transphobia. The misconception that gender—a sociocultural construct—is determined by sex chromosomes erases the experiences of gender-diverse and intersex individuals.

Bioessentialism underlies cis-normativity, or the assumption that all individuals have a binary gender identity consistent with their sex assigned at birth. Cis-normativity and lack of inclusion in prenatal spaces have led to reported discomfort with and lower uptake of obstetric and genetics services by gender-diverse individuals. These are just a few examples of many well-documented health disparities for gender minorities.

Conflating sex and gender in prenatal genetics is not only reductive and harmful to the diverse communities we serve—it’s also inaccurate. Genetic counselors rarely speak in absolutes. It’s common practice for genetic counselors discussing negative carrier screening results to say, “There is a reduced chance for the pregnancy to be affected,” to acknowledge that residual risk to the pregnancy still exists, even if it’s as low as 1 in 10,000. However, this level of specificity is lost when genetic counselors tell patients “You’re having a girl!” and “You’re having a boy!” based on NIPS results. These statements are rife with opportunities for inaccuracy, including:

1. The sensitivity of the NIPS for sex chromosome prediction falls short of 100%.
2. NIPS does not screen for non-chromosomal differences of sex development and intersex variations. Approximately 2% of people are born with intersex variations.
3. There is a significant possibility—much higher than the residual risk of most recessive conditions—that an infant’s sex assigned at birth will not align with their gender identity. Approximately 0.6% of adults living in the United States are transgender and/or non-binary. When individuals born after 1997 are analyzed separately, 1.8% of individuals are transgender and/or non-binary. This rise is largely attributed to increased acceptance and awareness of gender-diverse identities.

Genetic counselors are in a prime position to educate patients on the differences between sex and gender. Our responsibility towards clinical accuracy, social justice, and health equity demands that we improve communication about sex and gender in prenatal screening.

UPDATING ‘THE SPIEL’

Shifting our language takes practice, and ideas of what constitutes inclusive language are continually evolving. However, genetic counselors are trained to understand the power of our word choices and to approach cultural differences with humility. Just as we exclude and correct ableist and racist language, we should eliminate cis-normative language.

So what does inclusive language look like? To start, it is important to differentiate sex and gender in our counseling. When describing what NIPS can tell us about sex, avoid the words “boy” and “girl” and remind patients that NIPS screens for sex, not gender.

Some phrases to consider:

• “X and Y chromosomes are called sex chromosomes because they influence things like genitals, reproduction, and puberty. For example, having XX chromosomes is often associated with features of female sex, and having XY chromosomes is often associated with features of male sex.”
• “This screening can give us information about one factor that influences sex, sex chromosomes, but there are other factors that also influence someone’s sex, like hormones, the environment, and other genes. For example, pictures from the ultrasound can suggest a different sex than the results of this screen.”
• “The results of this screen suggest that the sex is likely [male/female].”
• “Gender identity is something that develops over time, and your child will be able to tell you what their gender is when they are older.”

STEPS TOWARD ACTIVE ALLYSHIP

Let’s face it—many patients who choose NIPS do so to reveal the ‘gender’ of their future child. We are not always going to change patient views on the significance of predicted fetal sex. But we can choose to speak on sex and gender in a manner that’s consistent with scientific evidence, and most importantly, respectful of the gender-diverse and intersex communities. In changing the discussion around sex and gender in prenatal genetics, genetic counselors have an opportunity to help dismantle gender norms and cis-normativity and to better support the LGBTQIA+ community.

The opinions expressed in this article are solely our own and do not reflect the views and opinions of our employers.

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