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

Area of Science:

• Obstetrics and Gynecology
• Prenatal Diagnostics
• Genetics

Background:

• Non-invasive prenatal testing (NIPT) and preeclampsia screening tests (PES) are crucial for early pregnancy risk assessment.
• These tests detect fetal chromosomal abnormalities and maternal conditions like preeclampsia.
• Investigating the interplay between these tests can enhance prenatal risk evaluation.

Purpose of the Study:

• To explore the correlation between parameters from the preeclampsia screening test (PES) and results from non-invasive prenatal testing (NIPT).
• To determine if specific PES markers can predict NIPT findings for aneuploidies.
• To assess the relationship between PES-indicated risks and NIPT-detected fetal chromosomal abnormalities.

Main Methods:

• Retrospective analysis of pregnancies undergoing both PES and NIPT.
• PES parameters included multiples of the median (MoM) for PlGF, PAPP-A, MAP, and calculated risks for preeclampsia, IUGR, and preterm delivery.
• NIPT assessed risks for common aneuploidies, rare autosomal abnormalities, and fetal fraction; statistical correlation analyses were performed.

Main Results:

• Lower PlGF MoM and PAPP-A MoM were significantly associated with high-risk NIPT for Down and Edwards syndromes.
• Specific cut-offs for PlGF MoM and PAPP-A MoM demonstrated high probabilities for detecting these aneuploidies.
• High-risk PES for preeclampsia and IUGR substantially increased the odds of high-risk NIPT for Down and Edwards syndromes; reduced NIPT fetal fraction was observed in high-risk PES cases.

Conclusions:

• Fetal chromosomal abnormalities may be linked to altered PES parameters.
• Reduced NIPT fetal fraction in high-risk PES cases suggests potential placental dysfunction.
• Integrating PES parameters and NIPT fetal fraction may improve prenatal risk assessment accuracy.