The association between non-invasive prenatal testing and first-trimester preeclampsia screening

The non-invasive prenatal testing (NIPT) and preeclampsia screening test (PES) has been widely used to detect fetal chromosomal abnormalities and maternal preeclampsia during early pregnancy. Our aim was to investigate the correlation between PES parameters and NIPT aneuploidy results.

We retrospectively analyzed pregnancies that underwent both PES and NIPT. PES included multiples of the median (MoM) of PlGF, PAPP-A, MAP, and calculated risks for preeclampsia, intrauterine growth restriction (IUGR), and preterm delivery, while NIPT assessed risks for common aneuploidies, rare autosomal abnormalities, and fetal fraction. Statistical correlation analyses were conducted to evaluate associations between the parameters of the two tests.

Lower PlGF MoM and PAPP-A MoM were significantly associated with high-risk NIPT for Down and Edwards syndromes. Specific PlGF MoM cut-offs (<0.5315, <0.8515) showed higher probabilities of high-risk NIPT for Down and Edwards syndromes (AUC 0.829 and AUC 0.836, respectively). Similarly, PAPP-A MoM cut-offs (<0.7335, <0.429) indicated higher probabilities of high-risk NIPT for Down and Edwards syndromes (AUC 0.765 and AUC 0.909, respectively). High-risk PES for preeclampsia increased the odds of high-risk NIPT for Down and Edwards syndromes by 3.54 and 2.33 times, respectively; for IUGR, the increases were 8.38 and 12.25 times. High-risk PES for preterm delivery was associated with a 1.09-fold increase in the odds of high-risk NIPT for rare autosomal abnormalities. Fetal fraction was significantly lower in high-risk PES cases, positively correlated with PlGF MoM and PAPP-A MoM, and negatively with MAP MoM.

Fetal chromosomal abnormalities may indicate increased risk for PES parameters and risk assessments. Reduced NIPT fetal fraction in high-risk PES suggests potential placental dysfunction. Combining PES parameters and NIPT fetal fraction may provide reference for prenatal risk assessment.