Michelle Bellair, Elisabete Amaral, Mason Ouren, Cameron Roark, Jaeweon Kim, April O'Connor, Adrianna Soriano, Margaret L Schindler, Ronald J Wapner, Joanne L Stone, Nicola Tavella, Audrey Merriam, Lauren Perley, Amy M Breman, Arthur L Beaudet
OBJECTIVE: To clinically assess a cell-based noninvasive prenatal genetic test using sequence-based copy number analysis of single trophoblasts from maternal blood. METHODS: Blood was obtained from 401 (243 + 158) individuals (8-22 weeks) and shipped overnight. Red cells were lysed, and nucleated cells stained for cytokeratin (CK) and CD45 and enriched for positive CK staining. Automated scanning was used to identify and pick single CK+ /CD45- trophoblasts which were subjected to next-generation sequencing...
February 27, 2024: Prenatal Diagnosis