Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops-A case report. Clin Case Rep 2019 Nov;7(11):2165-2168

Date

12/04/2019

Pubmed ID

31788271

Pubmed Central ID

PMC6878046

DOI

10.1002/ccr3.2369

Scopus ID

2-s2.0-85073956306 (requires institutional sign-in at Scopus site)   4 Citations

Abstract

We report a case of a de novo ring 21 complex chromosomal rearrangement in a fetus presenting with hydrops. Noninvasive prenatal testing (NIPT) failed to detect the imbalance. This case highlights the need to understand the various limitations and strengths of NIPT technology when counseling patients.

Author List

Bone K, MacPherson MJ, Chernos J, Lauzon J

Author

Kathleen M. Bone PhD Associate Professor in the Pathology department at Medical College of Wisconsin