Gender and Sex Inclusive Approaches for Discussing Predicted Fetal Sex: A Call for Reflection and Research

Technology has rapidly transformed the centuries-old practice of fetal sex prediction, and significant social and medical progress is changing the way prenatal health care providers (HCPs) address the often-asked question, “Am I having a boy or a girl?” Access to prenatal cell-free fetal DNA (cfDNA) screening is expanding broadly, and medical societies recommend cfDNA screening for all pregnancies.^{1, 2} Prenatal cfDNA screening offers sex chromosome assessment for sex chromosome aneuploidy (sex chromosome complements other than XX or XY), along with other aneuploidy screening (for trisomies 13, 18, and 21), as early as 10 weeks’ gestation. Patients may have a limited understanding of the prevalence of aneuploidy in the general population, the implications of these differences, and the purpose of screening for them. This gap in understanding could lead patients to believe the test is solely about gender determination.

There is increased awareness that gender and sex diversity are essential components of health, health care, and social reality.³ In this commentary, we posit that many prenatal HCPs are currently underprepared to talk to parents about fetal sex prediction and sex chromosome variation during the course of prenatal care in a manner that is accurate and inclusive of gender and sex diversity, which would promote family function and individual well-being for gender- and sex-diverse children and adults. This skill is relevant to midwives, nurses, genetic counselors, physicians, physician associates, radiologists, and radiology technicians. Of note, in this commentary, we have largely chosen to use the term parents to align with the focus on childhood gender socialization, presupposing a context of desired pregnancies leading to birth and parenting.

When prenatal HCPs tell patients, “It's a girl!” or “It's a boy!” they reinforce an erroneous bioessentialist framework: people with XX chromosomes or an apparent vulva are assigned female and socialized as girls, and people with XY chromosomes or an apparent penis are assigned male and socialized as boys. (See Table 1 for relevant terms and definitions.) However, a person's own construct of gender identity is the result of interactions between biological and social factors and relies on cognitive development across the life span. Misconceptions about both sex and gender that are often enacted during the prenatal period among HCPs and pregnant people include: (1) sex and gender are determined by sex chromosomes alone, (2) a person's sex chromosomes can only be XX or XY, and that sex is strictly binary, and (3) there are only 2 gender categories: boy or girl.^{4, 5} These incorrect assumptions jeopardize the child's autonomy⁶ and contribute to the inflexible binary social model and dimorphic biological model that underlie bigotry, erasure, phobias, and discrimination against gender-diverse and sex-diverse people.⁷ Structural medical and social discrimination against transgender individuals is reflected in persistent health disparities.⁸ Furthermore, individuals with variations of sex characteristics and chromosomes are subject to the pathologization of benign variations, resulting in unnecessary nonconsensual medical procedures and trauma.⁹ In the following sections, we outline key questions that need further exploration and research.

This commentary raises important questions and presents suggestions for promoting gender-expansive and intersex-inclusive perspectives when discussing fetal sex prediction during pregnancy. Prenatal HCPs and their care teams can play an important role in normalizing positive attitudes toward sex-diverse and gender-diverse children. We call for additional implementation research, clinical quality improvement, and health care systems change that (1) create inclusive and affirming prenatal care environments, (2) enhance support for gender-diverse and sex-diverse people, and (3) prioritize initiatives led by members of gender-diverse and sex-diverse communities.

Hannah Llorin is a recent employee and equity holder of 23andMe. The remaining authors have no conflicts of interest to disclose.