A case of mosaic trisomy 17 with inconsistent findings between noninvasive prenatal testing and genetic amniocentesis
This case highlights the limitations of NIPT and the importance of confirmatory diagnostic testing. The findings underscore the need for meticulous genetic counseling and informed consent, particularly in cases with suspected chromosomal anomalies.
Authors
- Juseok Yang (ORCID: https://orcid.org/0000-0002-9412-6565)
- Hyen Chul Jo (ORCID: https://orcid.org/0000-0001-9943-2863)
- Jong Chul Baek (ORCID: https://orcid.org/0000-0003-0919-0800)
- Ji Eun Park (ORCID: https://orcid.org/0000-0002-6430-2310)
Institutions
- Gyeongsang National University (KR)
- Gyeongsang National University Hospital (KR)
Publication Details
- Journal
- Taiwanese Journal of Obstetrics and Gynecology
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1016/j.tjog.2024.10.024
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00