Patient understanding of fetal sex versus gender in the context of routine cell-free DNA screening

Noninvasive prenatal testing (NIPT) is the current standard of care to screen for fetal aneuploidy using cell-free DNA. NIPT screens for sex chromosome aneuploidies and, in doing so, can predict fetal chromosomal sex. Despite sex and gender being distinct concepts, many patients refer to NIPT as the “gender test” and use NIPT to find out predicted fetal sex and assume gender. Our study aimed to evaluate and describe patient understanding of sex and gender in the context of receiving routine prenatal genetics education (PGE) on NIPT. A survey was developed in REDCap with the goal of assessing patient understanding of sex versus gender and factors that may influence their understanding. University of Texas Physicians patients in the Greater Houston area who received PGE were prospectively recruited from August to December 2023 (N = 375) to participate in this study. Statistical analysis found that, despite a majority (92.0%) of participants receiving PGE that was known to use “sex” exclusively in its written terminology, over half (51.0%) reported that their PGE used “gender.” Participants were more likely to report that their PGE used “gender” if they also reported using “gender” to reference their own pregnancy (p < 0.001). While a majority (76.0%) of participants correctly answered less than 50% of questions aimed to assess understanding of gender, those who were younger (p = 0.001) and those with a higher level of education (p < 0.001) answered more questions correctly. Younger and more educated participants were also more likely to report that they correctly use “sex” to reference their pregnancy as opposed to “gender” (p = 0.018 and p < 0.001, respectively). Ultimately, this study identified that there is a gap in patient understanding of sex versus gender that could potentially be mediated by improved prenatal genetics education.