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

Kristy Crooks; Ginger Edwardsen; Siobhan O'Connor; Cynthia Powell; Diane Vargo; Neeta Vora; Kathleen Kaiser-Rogers

doi:10.1002/ccr3.421

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

Clin Case Rep. 2015 Nov 9;4(1):19-22. doi: 10.1002/ccr3.421. eCollection 2016 Jan.

Authors

Kristy Crooks¹, Ginger Edwardsen², Siobhan O'Connor¹, Cynthia Powell³, Diane Vargo², Neeta Vora², Kathleen Kaiser-Rogers⁴

Affiliations

¹ Department of Pathology and Laboratory Medicine University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina.
² Department of Obstetrics and Gynecology University of North Carolina at Chapel Hill School of Medicine Chapel Hill North Carolina.
³ 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.
⁴ 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.

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.

Keywords: Aneuploidy; cell‐free fetal DNA; confined placental mosaicism; noninvasive prenatal testing.

Publication types

Case Reports