Validation study for noninvasive single-cell-based prenatal genetic testing
Michelle Bellair, Elisabete Amaral, Mason Ouren, Cameron Roark, Jae‐Weon Kim, April O’Connor, Adrianna Soriano, Margaret L. Schindler, Ronald J. Wapner, Joanne L. Stone, Nicola Francesco Tavella, Audrey Anne Merriam, Lauren E. Perley, Amy M. Breman, Arthur L. Beaudet
This study validates a noninvasive prenatal genetic test using single trophoblast analysis, showing high concordance with CVS/amniocentesis for aneuploidy and deletions/duplications.
medRxiv · Aug 29, 2023 · PreprintGenetic & Genomic Medicine