Background
The clinical significance and inclusion of pregnant persons’ race in prenatal serum screening for fetal trisomy 21 (T21), trisomy 18 (T18), and open neural tube defects (ONTDs) is under debate within the medical community. While some studies support race-based adjustments, recent evidence challenges their validity, highlighting concerns about disease misclassification and the potential for associated healthcare inequities.
Scope
The primary goal of this guideline is to evaluate the evidence supporting the utility of race-based adjustments in prenatal serum screening for fetal aneuploidies and ONTDs. This guideline aims to inform pathologists’ and other healthcare professionals’ decisions regarding the continuation, refinement, or elimination of existing race-based practices to ensure equitable and evidence-based care for pregnant individuals.
Key Questions
The draft overarching question is:
- In first and second trimester prenatal serum screening for fetal trisomy 21 (T21), trisomy 18 (T18), and open neural tube defects (ONTDs), what is the impact of excluding race/ethnicity-based adjustment—whether in the calculation of individual serum biomarkers or in multivariate risk algorithms—on screening performance and patient-centered outcomes, compared to approaches that include race/ethnicity-based adjustment?