Effect of Uterine Leiomyomas on Noninvasive Prenatal Testing Parameters in the First Trimester

Abstract

Uterine leiomyomas may affect the performance of cell-free DNA (cfDNA)–based noninvasive prenatal testing (NIPT). We conducted a retrospective cohort study of pregnant individuals with and without leiomyomas undergoing first-trimester cfDNA-based NIPT. Characteristics of NIPT in patients with leiomyomas (n=122) were compared with those in patients without leiomyomas (n=937). Mean fetal fraction was lower in patients with leiomyomas compared with patients without (10.0% vs 11.5%; P=.001); however, the rate of indeterminate results was different only in patients without obesity (body mass index [BMI] lower than 30) (5.3% vs 1.5%; P=0.03). Total cfDNA concentration was higher in patients with leiomyomas (P=.002), suggesting possible dilution of the fetal fraction. Leiomyoma size did not affect NIPT metrics. In conclusion, uterine leiomyomas are associated with lower fetal fraction and, in patients without obesity, with a higher rate of indeterminate results independent of leiomyoma size.