The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency
Our analysis revealed a low diagnostic yield (2.5%) for prenatal WES in cases of isolated increased NT ≥ 3.0 mm. Our findings provide valuable evidence for clinical counseling, particularly when patients inquire about the likelihood of isolated findings. These data offer meaningful guidance for their decision-making process regarding further testing options.
Authors
- Caiqun Luo (ORCID: https://orcid.org/0009-0006-3038-0931)
- Yang Liu (ORCID: https://orcid.org/0000-0001-9605-7877)
- Qian Geng
- Xiaoxin Xu
- Hui Wang (ORCID: https://orcid.org/0000-0002-6260-9511)
Institutions
- Shenzhen Maternity and Child Healthcare Hospital (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-11-29
- DOI
- https://doi.org/10.1002/mgg3.70161
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sanming Project of Medicine in Shenzhen