Noninvasive single‐cell‐based prenatal genetic testing: A proof of concept clinical study
Bellair M, Amaral E, Ouren M, Roark C, Kim J, O'Connor A, Soriano A, Schindler M, Wapner R, Stone J, Tavella N, Merriam A, Perley L, Breman A, Beaudet A. Noninvasive single‐cell‐based prenatal genetic testing: A proof of concept clinical study. Prenatal Diagnosis 2024, 44: 304-316. PMID: 38411249, DOI: 10.1002/pd.6529.Peer-Reviewed Original ResearchConceptsNoninvasive prenatal genetic testingLow-risk pregnanciesConcept clinical studyCopy number analysisPrenatal genetic testingNext-generation sequencingPlacental mosaicismMaternal bloodAneuploidy resultsMeasures of test performanceCK stainingCVS casesClinical studiesGenetic testingNucleated cellsTrophoblastRed cellsNumber analysisPregnancyBloodDeletions/duplicationsAneuploidyDeletionAmniocentesisCells