Open access
Sep 2026
The Implementation and Clinical Validation of a Whole-Genome Sequencing Non-Invasive Prenatal Test in a High-Complexity Clinical Laboratory: A Retrospective Analysis of 11,235 Pregnancies
Background: Cell-free DNA non-invasive prenatal testing (NIPT) is recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) for fetal aneuploidy screening in all pregnancies, yet most testing is performed by centralized reference labor...
L. Northrop, Jay Eastway, Sudhakar Ravuri et al.
· Diagnostics · 0 citations