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
12/04/2019Pubmed ID
31788271Pubmed Central ID
PMC6878046DOI
10.1002/ccr3.2369Scopus ID
2-s2.0-85073956306 (requires institutional sign-in at Scopus site) 4 CitationsAbstract
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.