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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) has long been debated 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:

  • How does the inclusion of race in biomarker adjustment calculations affect the accuracy of risk assessment and patient outcomes in serum prenatal screening?
    Key questions will focus on evaluating individual biomarkers used in first- and second-trimester serum prenatal screening.

Guideline Information

  • Guideline Status: Determine Scope and Form Panel
  • 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
  • Carol Colasacco, MLIS, CT(ASCP)
  • Julie Donovan, MLS(ASCP)
  • Marisol Hernandez, MA, MLS

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