2024
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
2020
Chapter 12 Prenatal testing
Copel J, Kohari K, Merriam A. Chapter 12 Prenatal testing. 2020, 201-221. DOI: 10.1016/b978-0-12-816561-4.00012-0.ChaptersPrenatal testingMaternal-fetal medicineSecond-trimester screeningFirst-trimester screeningTime of deliveryWhole-exome sequencingChorionic villus samplingCurrent pregnancyCell-free fetal DNA screeningCertain patientsMaternal ageReproductive endocrinologyGenetic testingVillus samplingDNA screeningPatientsObstetricsSitu hybridizationScreeningTest optionsMedical GeneticsRiskGeneticsOptionsPregnancy
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