Peer-Reviewed Publication
Obstet Gynecol2026August 13, 2026Journal Article
A Prospective, Multi-Site Study of Performance of Cell-Free DNA Testing for Recessive Conditions in a Large, General-Risk Pregnancy Population.
Eliza R McElwee1, Julia Wynn, Shannon Rego, Andrew Haddad, Rachel Levan, Jennifer Hoskovec, Rebecca Crowe, Jalonna Robinson, Jesslyn Payne, Susan Shondel, Jennifer Byrnes, Kylan Hill, Jenny Wiggins-Smith, L Cristina Faletti, Stephanie Tims, Kelly Helton, Andre Hall, Jesus Alvarez Perez, Andrew S Haddad, Swati Verma, Emily E Hardisty, Jennifer L Czerwinski, Sunbola S Ashimi, Neeta L Vora, Akila Subramaniam
1Medical University of South Carolina, Charleston, South Carolina; BillionToOne, Menlo Park, California; Summa Health, Akron, Ohio; Shannon Medical Center, San Angelo, and the University of Texas Health Science Center, Houston, Texas; Baptist Medical Group, Covington, Tennessee; Birth and Women's Care, Fayetteville, and the University of North Carolina School of Medicine, Chapel Hill, North Carolina; Hackensack Meridian Health, Hackensack, New Jersey; and the University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama.
Abstract
OBJECTIVE: To evaluate the clinical performance of cell-free DNA (cfDNA) screening as a primary screening tool for autosomal recessive conditions in a large, prospective, general-risk population.
METHODS: We conducted a prospective analysis of pregnant individuals who underwent carrier screening with a reflex cfDNA fetal risk assessment at nine participating U.S. institutions. The conditions eval…
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