Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies
The integration of CMA/CNV-seq with trio-WES, alongside prenatal ultrasound scanning, holds the promise of significantly enriching our ability to decipher fetal phenotypes. This tripartite approach stands to revolutionize the diagnostic process, offering a more comprehensive and nuanced understanding of the underlying genetic architecture that underpins prenatal anomalies.
Authors
- Ziye Zeng
- Guohua Yu
- Jian Li (ORCID: https://orcid.org/0000-0003-1259-1381)
- Hua Zhang (ORCID: https://orcid.org/0000-0001-9591-3504)
- Yuqin Zhou
- Yanling Dong (ORCID: https://orcid.org/0000-0003-4356-719X)
- Yuqi Liu (ORCID: https://orcid.org/0000-0001-9170-8562)
- Yana Zhang (ORCID: https://orcid.org/0000-0003-4463-1827)
- Yulin Chen (ORCID: https://orcid.org/0000-0001-6174-1580)
- Xue Zhang (ORCID: https://orcid.org/0009-0004-0249-0581)
- Yi Hong (ORCID: https://orcid.org/0000-0001-7862-3388)
- Jing Yi (ORCID: https://orcid.org/0000-0001-9868-6538)
- Lan Zhang (ORCID: https://orcid.org/0000-0002-4324-2398)
- Qian Chen (ORCID: https://orcid.org/0000-0001-8211-6645)
- He Li (ORCID: https://orcid.org/0000-0002-8617-6503)
Institutions
- BGI Group (China) (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-04-05
- DOI
- https://doi.org/10.1186/s40246-025-00745-6
- Citations
- 3
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 10.48