Why Genetic Testing Can’t Always Reveal a Baby’s  sex

Gender and Sex: More Than Just X and Y Chromosomes
Gender reveal parties, known for their pink and blue themes and often involving elaborate celebrations, reflect society’s tendency to categorize children into binary gender roles before they are born. Traditionally, these reveals are based on an 18- to 20-week ultrasound. However, advancements in genetic research have introduced cell-free DNA prenatal screening (cfDNA) or noninvasive prenatal testing (NIPT) as a new method to determine sex chromosomes as early as 10 weeks into pregnancy. Despite its nickname, “the gender test,” this screening cannot determine gender.
As genetic counselors and researchers, we stress the importance of precise language when discussing genetic testing to provide affirming counseling and avoid erasing transgender and intersex individuals from healthcare conversations.
 Distinguishing Sex and Sex Chromosomes
Sex and gender are often confused but are distinct concepts. Sex is typically assigned at birth based on observed genitals or genetic testing, with XX chromosomes usually assigned female and XY chromosomes male. However, sex determination involves more than just X and Y chromosomes; it also includes other chromosomes, hormone receptors, neural pathways, reproductive organs, and environmental factors. Intersex individuals, who have variations in sex characteristics, highlight the complexity of sex beyond the binary framework.
Understanding Gender
While sex refers to anatomical characteristics, gender encompasses a person’s self-view and presentation to the world, influenced by factors such as clothing, haircuts, and voice tone. Gender is not determined by biology or chromosomes. Transgender individuals may have a gender identity that differs from their assigned sex, and nonbinary individuals do not fit exclusively into the male or female categories. As societal awareness of gender diversity grows, estimates of transgender and nonbinary individuals are likely to increase.
Challenging Norms
Bioessentialism, the idea that biology determines identity, has long perpetuated misconceptions about sex and gender. This belief confines people to rigid roles and limits their self-determination. Upholding binary constructs restricts individuality and authenticity, setting harmful expectations from birth. Letting Children Define Themselves
Parents considering cf DNA prenatal screening should remember it only reveals part of the picture. It cannot determine gender, which is an entirely different concept. Jenna Karvunidis, who started the gender reveal trend, later expressed regret, advocating for celebrating the baby without imposing gender expectations. Instead, celebrate in a way that allows your child to define who they are.

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