Patient Understanding of Fetal Sex Versus Gender in the Context of Routine Cell-Free DNA Screening

Advisor: Shannon Mulligan, MS, CGC, MB(ASCP

Non-invasive prenatal testing (NIPT) is the current standard of care to screen for fetal aneuploidy using cell-free DNA (cfDNA). NIPT screens for sex chromosome aneuploidies (SCAs) 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 elect testing in order 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 with the goal of assessing patient understanding of sex vs. gender and factors that may influence their understanding; this survey was offered at participating University of Texas Physicians (UTP) clinical sites in the Greater Houston area in 2023. It was found that despite a majority (92.0%) of participants receiving PGE that was known to use 'sex' exclusively in its 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 vs. gender that could potentially be mediated by improved prenatal genetics education.

Advisory Committee:
Shannon Mulligan, MS, CGC, MB(ASCP), Chair
Kathryn Gunther, MS, CGC
Alvaro Montealegre, MD
Samantha Montgomery, MS CGC
Natalie Stoner, MS, LGC
Ted Tabor, MS, CGC

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