Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening
While current evidence is insufficient to draw definitive conclusions, this case highlights that isolated NT thickening may represent the only prenatal sign of Emanuel syndrome. Evaluation in larger cohorts and future prospective studies will be essential to determine the sensitivity and specificity of this marker for early diagnosis of the syndrome and the timely identification of balanced translocation carriers.
Authors
- M.I. Nikolenko (ORCID: https://orcid.org/0000-0002-0231-7496)
- Maya Bondarenko (ORCID: https://orcid.org/0000-0002-2113-4433)
- Anastasiia Dutchak (ORCID: https://orcid.org/0009-0002-2124-5536)
- Svetlana Arbuzova (ORCID: https://orcid.org/0000-0002-5846-1067)
- І. М. Купчак (ORCID: https://orcid.org/0000-0002-4833-7134)
- Ivanova Irina
Institutions
- Ivano-Frankivsk National Medical University (UA)
- University of Exeter (GB)
- Ukrainian Center of Environmental and Water Projects (Ukraine) (UA)
Publication Details
- Journal
- Case Reports in Genetics
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1155/crig/5541504
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00