Genetic Testing Cannot Reveal the Gender of Your Baby – Two Genetic Counselors Elucidate the Intricacies of Sex and Gender

Reimagining Gender Reveal Celebrations: Embracing Complexity Beyond the Binary

Gender reveal parties, often marked by pink and blue decor, cake and confetti, and occasionally dramatic pyrotechnics, have become social media sensations. However, these gatherings highlight how society categorizes children into one of two predetermined gender boxes before they are even born. Typically, these celebrations are based on the 18-to 20-week ultrasound, known as the anatomy scan. This is the stage in fetal development when genitals are observed, allowing "boy" or "girl" to be discreetly written on a piece of paper and placed in an envelope for the planned reveal.

A new player has emerged in the gender reveal game: genetic screening. Advances in genetic research have led to the development of a simple blood test called cell-free DNA prenatal screening. This test screens for whether a baby has extra or missing segments of genetic material—chromosomes—as early as 10 weeks into pregnancy. Included in this test are the sex chromosomes, known as X and Y, which play a role in bodily development and function.

Often referred to as noninvasive prenatal testing (NIPT), many people mistakenly call it "the gender test." However, this blood test cannot determine gender. As genetic counselors and clinical researchers working to improve genetic services for gender-diverse and intersex individuals, we emphasize the importance of using precise and accurate language when discussing genetic testing. This is crucial for providing affirming counseling to any patient seeking pregnancy-related genetic testing and resisting the erasure of transgender and intersex people in healthcare.

Distinguishing Sex and Gender Chromosomes

Sex and gender are often used interchangeably, yet they represent entirely different concepts. Typically, when people think of sex, they consider the categories female or male. Most commonly, sex is assigned by healthcare providers at birth based on the genitals they observe on the newborn. Sex may also be assigned based on the X and Y chromosomes found in a genetic test. Usually, individuals with XX chromosomes are assigned female at birth, and those with XY chromosomes are assigned male. Since cell-free DNA (cfDNA) prenatal screening can report on sex chromosomes months before birth, babies are receiving sex assignments much earlier than previously possible.

While cfDNA prenatal screening can offer insights into what sex chromosomes a fetus may have, sex determination is far more complex than just X's and Y's. Sex chromosomes do not solely determine someone's sex. Other chromosomes, hormone receptors, neural connections, reproductive organs, and environmental factors also contribute to sex determination, much like a symphony with its ensemble of instruments. Each cello, flute, timpani, and violin plays a crucial role in the performance of the final musical score. No single instrument defines the entirety of the orchestra.

Expanding social and medical concepts of sex and gender beyond the binary can benefit patients and doctors. Intersex people, or those with variations in sex characteristics that deviate from societal norms of binary sex, exemplify the complexities of sex. These variations can manifest in various ways beyond X and Y chromosomes, such as differences in hormone levels, genitalia, or secondary sexual characteristics.

The misrepresentation of sex based on societal norms has led many to believe that there are only two discrete genders. The binary construct of sex excludes intersex people and perpetuates their erasure and mistreatment within both healthcare and society at large. For instance, many intersex individuals face unnecessary surgeries, such as nonconsensual genital procedures, to conform to binary norms, violating their bodily autonomy.

Where Gender Comes In

While sex typically describes someone's physical characteristics, gender is an umbrella term that encompasses how someone views and presents themselves to the world. Countless aspects influence how someone defines their own gender and how they express their gender, including clothing, hairstyles, and voice tone. Just as Western cultures have historically confined sex to two categories, they have also created two gender categories: man and woman.

Gender is not dependent on physical attributes or chromosomes. People are not mathematical equations, and having specific combinations of biological parts does not equate to someone's gender. For example, some people may be transgender, meaning their assigned sex is not aligned with their socially or self-defined gender. Nonbinary individuals do not identify exclusively with either of the two genders in the binary, regardless of their assigned sex.

Just like sex diversity, gender diversity is not rare. A 2022 Pew Research Center analysis found that approximately 5% of adults in the U.S. under the age of 30 are transgender or nonbinary. These estimates will likely increase as societal awareness and acceptance of gender-diverse individuals grow. Anti-transgender legislation often misrepresents gender as strictly binary, conflating it solely with sex assigned at birth.

Intersex and gender-diverse people demonstrate that sex and gender are both complex. Gender is not determined by science, and defining someone's gender by their sex, much less by their sex chromosomes, is inaccurate.

Challenging Sex and Gender Norms

The idea that science plays the largest role in determining who a person is, or bioessentialism, has perpetuated misconceptions about sex and gender for decades. This concept is used to confine people to categories and limit their self-determination. For instance, societal norms dictate that women should be nurturing and gentle, while men are expected to be protective and assertive. Such rigid gender roles, often supported from a scientific perspective, uphold notions of evolutionary destiny and an alleged natural order.

Marketing strategies for children's toys often adhere strictly to gender roles, steering girls toward dolls and domestic play sets while guiding boys toward action figures and construction sets. Educational systems frequently reinforce gender norms by directing girls toward subjects like literature and arts while guiding boys toward science and math. This perpetuates the idea that certain traits and interests are inherently linked to one's sex and gender, thereby reinforcing societal norms and supporting inequality.

Upholding binary constructs of sex and gender does not allow for individuality and gender fluidity. Categorizing people from the time their chromosomes are analyzed or the moment their genitals are observed at birth limits their autonomy and authenticity. These simplistic assumptions set expectations that can be harmful.

Allowing Children to Define Themselves

If you're a parent offered cfDNA prenatal screening during pregnancy, remember that it is commenting on only one instrument in the symphony of sex. It cannot examine all the other factors that determine sex as a whole. Moreover, it certainly cannot determine gender, which is an entirely different performance.

Recently, Jenna Karvunidis, the mother credited with starting the trend of gender reveal parties, expressed her regrets for initiating the trend and noted that her views on sex and gender have evolved. In a 2019 Facebook post, Karvunidis stated, "Plot twist. The world's first gender reveal party baby is a girl who wears suits!" She also went on to say, "Celebrate the baby … Let's just have a cake."

When the envelope is opened, the balloons are popped, and the clever cake is cut, consider how these practices reinforce societal constraints and a gendered destiny for your little one. Perhaps opt instead for a celebration that leaves room for your child to one day define who they are.

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