title: Cell-free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21.
abstract: NIPT (noninvasive prenatal testing) detected trisomy for two chromosomes. One trisomy reflected the fetal karyotype, and the other resulted from CPM (confined placental mosaicism). This case illustrates that extensive cytogenetic analysis can be required to identify CPM, and that patients should be counseled regarding the possibility of discordant NIPT results.
authors.affiliation: Department of Pathology and Laboratory Medicine University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina.
authors.forename: Kristy
authors.initials: K
authors.lastname: Crooks
authors.affiliation: Department of Obstetrics and Gynecology University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina.
authors.forename: Ginger
authors.initials: G
authors.lastname: Edwardsen
authors.affiliation: Department of Pathology and Laboratory Medicine University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina.
authors.forename: Siobhan
authors.initials: S
authors.lastname: O'Connor
authors.affiliation: Department of Pediatrics University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina; Department of Genetics University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina.
authors.forename: Cynthia
authors.initials: C
authors.lastname: Powell
authors.affiliation: Department of Obstetrics and Gynecology University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina.
authors.forename: Diane
authors.initials: D
authors.lastname: Vargo
authors.affiliation: Department of Obstetrics and Gynecology University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina.
authors.forename: Neeta
authors.initials: N
authors.lastname: Vora
authors.affiliation: Department of Pathology and Laboratory Medicine University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina; Department of Pediatrics University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina; Department of Genetics University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Kaiser-Rogers
keywords: Aneuploidy; cell‐free fetal DNA; confined placental mosaicism; noninvasive prenatal testing