Racial and ethnic disparities in non-invasive prenatal testing adherence: a retrospective cohort study

Fetal aneuploidies, including trisomies 21, 13, and 18, represent a significant issue in prenatal care. The advent of non-invasive prenatal testing (NIPT) through the detection of cell-free DNA (cf-DNA) in maternal blood has modified screening for chromosomal abnormalities. This study evaluates NIPT adherence among pregnant of different ethnicities, addressing potential disparities in prenatal care.

This was a retrospective, single-center study conducted at a tertiary care university hospital in Italy between March 31, 2021, and September 30, 2022. Participants were categorized by ethnicity (Asian/Pacific islander, Black, Latina, White, Middle Eastern). Maternal demographic characteristics and prenatal test data were recorded. Comparative analyses were executed utilizing a One-Way Analysis of Variance (ANOVA) Test, augmented by Tukey's honestly significant difference test for post-hoc evaluation. Statistical significance was denoted by a P value (P)<0.05. A multivariate analysis through a multinomial regression model was conducted for the results to detect potential bias.

Six hundred seventeen pregnancies were included: 418 White, 105 Asian/Pacific islander, 46 Black, 40 Latina, and 8 Middle Eastern. Maternal age showed no significant variation. Black ethnicity had higher prepregnancy Body Mass Index (BMI; mean: 27.5 kg/m²±SD: 5.92, P=0.02), while Asian and White pregnancies had higher nulliparity rates (63.8% and 70.8%). Black ethnicity had no NIPT uptake (0.00%). Asian/Pacific islander and Latina pregnant had lower NIPT utilization (9.5% and 7.5%, P<0.001). White ethnicity had a higher NIPT rate (27.5%). In the NIPT group, 8.9% of White and 12.5% of Middle Eastern pregnancies chose cf-DNA without a prior first-trimester ultrasound test. Considering the first-trimester screening, 30.4% of Black pregnancies had nuchal translucency, while 17.4% combined it with beta-human chorionic gonadotrophin (β-hCG) and associated plasma protein-A (PAPP-A; P<0.001). White pregnancies had high adherence: 74.6% had nuchal translucency and 53.8% had a first-trimester combined test. Overall, 69.6% of Black pregnancies skipped both tests versus 16.5% in the White group (P<0.001).

Significant disparities in prenatal care and NIPT adherence were observed among pregnant women of diverse ethnic backgrounds. Lower cf-DNA adhesion and limited adherence to first-trimester screening were observed among any ethnicities. These findings highlight the critical need for targeted interventions and policies to reduce barriers and facilitate access to prenatal care for all women.