Key Takeaways

• Only about one-third of pregnant patients likely received a preferred, more accurate prenatal genetic screening test, according to a national study of more than 450,000 patients
• Black patients, those who preferred a language other than English and those living in rural or more socially disadvantaged communities were less likely to receive cfDNA prenatal genetic screening
• The findings highlight potential inequities in access to guideline-recommended prenatal care
• Findings presented this week at the National Society of Genetic Counselors (NSGC) 45th Annual Conference

BALTIMORE – Nov. 11, 2026 – Pregnant patients who identified as non-White or Black, preferred a language other than English, were more socially and economically disadvantaged, had multiple pregnancy history, or resided in a rural area were less likely to receive preferred cell-free DNA (cfDNA) prenatal screening, according to a national study of more than 450,000 patients presented at the National Society of Genetic Counselors (NSGC) 45th Annual Conference.

Prenatal screening uses a pregnant patient’s blood to assess the chance that the fetus has certain chromosomal conditions, such as Down syndrome. Professional guidelines from the American College of Medical Genetics and Genomics (ACMG) and the International Society for Prenatal Diagnosis (ISPD) recommend offering prenatal genetic screening to all pregnant patients, with cfDNA preferred over maternal serum screening for pregnancies involving one fetus because it more accurately detects these conditions and provides results earlier in pregnancy. Yet researchers found that only 31.7% of patients in the study received cell-free DNA screening, compared with 68.2% who received traditional serum screening.

“Every pregnant patient should have the same opportunity to receive the most accurate screening available, regardless of their background or circumstances,” said Jessica Hidalgo, PhD, CGC, coauthor of the study and lead cytogenetic counselor at ARUP Laboratories. “While our study didn’t explore the cause of these disparities, previous research suggests communication barriers, provider familiarity with screening recommendations and differences in insurance coverage or reimbursement may play a role.”

The researchers analyzed a national electronic health records database of 451,194 pregnant patients from 2018-2024 to identify characteristics of patients given the traditional serum screening rather than cfDNA screening. They determined:

• Patients who identified as Black or African American were 13% less likely to receive cfDNA screening than white patients. While patients who identified as “other” race were 8% less likely to receive cfDNA screening than white patients. Patients whose primary language was not English were 12% less likely to receive cfDNA screening than patients who preferred English.
• Patients with extremely high Social Vulnerability Index (SVI) scores, representing greater social and economic disadvantages, were 11% less likely to receive cfDNA screening than patients with extremely low SVI scores. SVI is a tool developed by the Centers for Disease Control and Prevention (CDC) to measure how resilient communities are to external stresses based on social, economic and demographic factors
• For each increase in pregnancy count, patients were 7% less likely to receive cfDNA screening.
• For each one-unit increase in Rural-Urban Commuting Area (RUCA) score, where 1 represents the most urban and 10 the most rural locations, patients were 4% less likely to receive cfDNA screening.
• Patients who were older and married were more likely to receive cfDNA screening.

Researchers determined the use of cfDNA screening increased throughout the study period, with a notable rise in 2023 that coincided with updated professional guidelines.

“Our findings highlight the need to ensure that decisions about prenatal screening are guided by medical recommendations and patients' informed choices, rather than barriers to care,” said Shivani Patel, MS, CGC, lead author of the study and recent graduate of the Utah Genetic Counseling Program.

Both tests use a pregnant patient’s blood, but they look at different things to estimate the chance the fetus has of certain genetic conditions. While cfDNA screening analyzes fragments of DNA from the placenta circulating in the blood, traditional serum screening measures levels of certain proteins and hormones. Compared to traditional serum screening, cfDNA screening is more accurate at identifying the likelihood of the most common chromosomal abnormalities in pregnancy — including fetal trisomies 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome) — as well as providing results as early as 10 weeks into pregnancy, while traditional serum screening may be given in the first or second trimester

“Genetic counselors can play an important role in closing these gaps, particularly in rural and underserved communities, where access to specialized care may be limited,” said Philip Connors, MS, MPH, CGC, president-elect of the National Society of Genetic Counselors. “By helping obstetric providers stay current on screening recommendations and supporting efforts to expand genetic services, they can ensure more patients receive high-quality prenatal care.”   

News releases may contain updated data or language that does not match what is reported in the abstract.

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Note to editors: Media interested in viewing study abstracts, interviewing authors and/or attending sessions at the NSGC Annual Conference can contact NSGC’s PR team at  NSGCPR@pcipr.com.

About the National Society of Genetic Counselors

NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents more than 5,000 masters-level health professionals, who are committed to ensuring that the public has access to genetic counseling and genetic testing. For more information, visit www.nsgc.org.  

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