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- Use of Race in Prenatal Screening
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?
Key Question List
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- KQ1. In first trimester prenatal serum screening for fetal trisomy 18 (T18) and trisomy 21 (T21), does excluding race/ethnicity-based adjustment in the calculation of maternal serum pregnancy-associated plasma protein A (PAPP-A) result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
- KQ2. In first trimester prenatal serum screening for fetal T18 and T21, does excluding race/ethnicity-based adjustment in the calculation of maternal serum human chorionic gonadotropin (hCG) result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
- KQ3. In first trimester prenatal screening for fetal T21, does excluding race/ethnicity-based adjustment when combining values of hCG and PAPP-A in a multivariate risk algorithm, result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
- KQ4. In first trimester prenatal screening for fetal T18, does excluding race/ethnicity-based adjustment when combining values of hCG and PAPP-A in a multivariate risk algorithm, result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
- KQ5. In second trimester prenatal serum screening for fetal T18, T21, and fetal open neural tube defects (ONTDs), does excluding race/ethnicity-based adjustment in the calculation of maternal serum alpha-fetoprotein (AFP) result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
- KQ6. In second trimester prenatal serum screening for fetal T18 and T21, does excluding race/ethnicity-based adjustment in the calculation of maternal serum dimeric inhibin A (DIA) result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
- KQ7. In second trimester prenatal serum screening for fetal T18 and T21, does excluding race/ethnicity-based adjustment in the calculation of maternal serum hCG result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
- KQ8. In second trimester prenatal serum screening for fetal T18 and T21, does excluding race/ethnicity-based adjustment in the calculation of maternal serum unconjugated estriol (uE3) result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
- KQ9. In second trimester prenatal screening for fetal T21, does excluding race/ethnicity-based adjustment when combining values of AFP, DIA, hCG and uE3 in a multivariate risk algorithm, result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
- KQ10. In second trimester prenatal screening for fetal T18, does excluding race/ethnicity-based adjustment when combining values of AFP, DIA, hCG and uE3 in a multivariate risk algorithm, result in equivalent screening and patient-centric outcomes when compared to calculations that include race/ethnicity-based adjustment?
Guideline Information
- Guideline Status: Research and Review
- Collaborators: American College of Medical Genetics and Genomics (ACMG); American College of Obstetricians and Gynecologists (ACOG); Association for Diagnostics & Laboratory Medicine (ADLM); International Society for Prenatal Diagnosis (ISPD); Society of Black Pathology (SBP)
Expert Panel Members
- Ann Moyer, MD, PhD, FCAP, Co-chair
- Marvin Natowicz, MD, PhD, FCAP, Co-chair
- Octavia Peck Palmer, PhD, Co-chair
- April Adams, MD
- Allison Allen, MD
- Dina Greene, PhD
- Geralyn Messerlian, PhD
- Christina Pierre, PhD
- Lesley Souter, PhD
- Julie Donovan, MLS(ASCP)
- Marisol Hernandez, MA, MLS