Application of family whole-exome sequencing for prenatal diagnosis—an analysis of 357 cases
1. This study provides robust data supporting the application of whole-exome sequencing of family lines in clinical practice, offering valuable reference information for clinicians. 2. The newly discovered variants significantly enhance the relevant genetic databases. 3. Genetic diagnosis can offer clear guidance regarding the decision to continue with the pregnancy and future reproductive choices.
Authors
- Yin Peng
- Junfang Xiao (ORCID: https://orcid.org/0009-0003-9136-7130)
- Bicheng Yang
- Huizhen Yuan
- Yi‐Jun Ge
- Yao Yu (ORCID: https://orcid.org/0000-0002-2727-1746)
- Ying Liu (ORCID: https://orcid.org/0000-0003-0634-8158)
- Yongyi Zou (ORCID: https://orcid.org/0000-0001-5869-7988)
- Shuhui Huang
- Danping Liu (ORCID: https://orcid.org/0009-0007-9723-6982)
Institutions
- Shangrao Normal University (CN)
- Chongqing Academy of Science and Technology (CN)
- Jiangxi Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-08-04
- DOI
- https://doi.org/10.3389/fmed.2025.1529894
- Citations
- 1
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.81