ARUP Study: Atypical cfDNA Results Flag Real Diagnoses in 50% of Cases
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Salt Lake City – September 11, 2026 -- A decade-long study by ARUP Laboratories found that 50% of pregnancies with atypical prenatal cell-free DNA (cfDNA) screening results carried at least one clinically significant abnormality confirmed by follow-up testing, reshaping how providers should respond to inconclusive genetic screens.
ARUP analyzed over 200 atypical cfDNA cases spanning more than 10 years
Researchers reviewed more than 10 years of data and over 200 cases where atypical cfDNA screening results were followed by additional prenatal, postnatal, or maternal testing. The findings, published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG), represent what ARUP describes as the largest study of its kind on atypical cfDNA findings.