(1171) Recent trends in prenatal genetic screening for aneuploidy at a large academic center

Objective:

Genetic screening for aneuploidy is recommended for all patients, but ACOG does not recommend one standard approach.  Given rapid uptake of non-invasive prenatal testing (NIPT), we sought to evaluate recent rates of specific aneuploidy screening test uptake.


Study Design:
We performed a retrospective cohort study of all patients who received prenatal care at a single center 2018-2023. Patient demographics, location of clinical care, and aneuploidy screening methods (NIPT versus quad screen) were ascertained. NIPT was a send-out lab, while quad screen was done in-house. Of note, combined/first trimester serum screening was discontinued by our in-house lab June 2023, and thus not included for analysis. The primary outcome was NIPT uptake; secondary outcome was uptake of quad screen. Outcomes were compared by each calendar year. Secondary analysis evaluated patient characteristics of those who did and did not receive NIPT (odds ratio [OR]s with 95% confidence intervals [CI]) with temporal variations in NIPT uptake evaluated using the Breslow-Day test (BDT).

Results:
Of 30,570 pregnancies during the study period, 20,165 met study criteria. There was a significant increase in the rate of NIPT uptake from 8.6% to 32.2% with reciprocal decrease in quad testing (p< 0.001, Figure 1). Patients who received NIPT were more likely to have government insurance (OR 2.72 [95% CI 2.51, 2.95]), be ≥35 years old (OR 2.18 [2.01, 2.37]), receive care at the publicly funded high-risk clinics (OR 3.00 [2.78, 3.22]), be multiparous (OR 1.36 [1.27, 1.47], and self-identify as Black race (OR 2.15 [2.00, 2.30]). Over time, the odds of NIPT significantly differed amongst all these characteristics (BDT p< 0.05) except parity (p=0.07). NIPT receipt continued to be higher amongst those with government insurance and of Black race over the study period, while NIPT uptake became similar based on age (Figure 2). 

Conclusion:

We demonstrate decreasing traditional serum screening and increasing NIPT uptake for aneuploidy screening. Of note, race, payor type, and clinical location are highly correlated with NIPT receipt over time.