Interview: Study Findings Question Value of Including Race in Prenatal Screening for Birth Defects

January 2025

Waiting for the results of a prenatal open neural tube defect (ONTD) test can be a tense moment in any pregnancy. In a conversation in JAMA Network with Roy Perlis, MD, MSc, (editor in chief of JAMA+ AI and director of the Center for Quantitative Health at Massachusetts General Hospital) University of Pennsylvania researcher Daniel S. Herman, MD, PhD, assistant professor of pathology and laboratory medicine, talks about this test and the recommendation around removing race as a factor in it.

The test measures serum α-fetoprotein (AFP) concentrations and higher values correlate to increased risk for ONTD. Black patients have been found to have higher AFP on average, but not higher rates of ONTD, so using a race agnostic formula that averages measurements across all patients is likely to be more appropriate. Why AFP measurements in Black patients tend to be higher is not known and clearly an area for further study to determine the underlying cause, whether genetic or the result of a social health driver. Penn is changing the algorithms used to measure AFP concentrations in its large and diverse population of patients and will continue to study the issue.

Dr. Herman and his colleagues published their findings in this research letter in JAMA Pediatrics.