
Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops—A case report
Author(s) -
Bone Kathleen,
MacPherson Melissa Jean,
Chernos Judy,
Lauzon Julie
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2369
Subject(s) - medicine , fetus , prenatal diagnosis , ring chromosome , chromosome , obstetrics , pregnancy , karyotype , genetics , biology , gene
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.