Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies
Our study demonstrated that the simultaneous CNV-seq and WES analyses are beneficial for the molecular diagnosis of underlying unexplained structural anomalies in fetuses. This strategy is more efficient in elucidating prenatal abnormalities with compound problems, such as dual diagnoses. Furthermore, the simultaneous strategy has a shorter turnaround time and is particularly suitable for families with structural anomalies found in the third trimester of pregnancy.
Authors
- Dongzhu Lei (ORCID: https://orcid.org/0000-0002-3330-5586)
- Jufang Tan
- Hongguo Jiang
- Danjing Chen
- Haoqing Zhang (ORCID: https://orcid.org/0000-0003-1138-0427)
- Haiying Yan (ORCID: https://orcid.org/0009-0000-6336-8249)
- Yinli Cao
- Caiyun Li (ORCID: https://orcid.org/0000-0001-7282-1703)
- Wenqian Zhang (ORCID: https://orcid.org/0000-0002-2901-4743)
- Xinglan He
- Xiaoyun Du (ORCID: https://orcid.org/0009-0009-7955-4340)
- Lingling Peng (ORCID: https://orcid.org/0000-0003-3236-7555)
- Shuai Hou (ORCID: https://orcid.org/0009-0002-0751-8278)
- Y Wang (ORCID: https://orcid.org/0000-0003-2012-2219)
- Dongqun Huang
Institutions
- BGI Group (China) (CN)
- Central South University (CN)
- Hunan Normal University (CN)
- Changsha Hospital for Maternal and Child Health Care (CN)
- Chenzhou First People's Hospital (CN)
- Second Xiangya Hospital of Central South University (CN)
- BGI Genomics
- University of South China (CN)
Publication Details
- Journal
- Heliyon
- Published
- 2024-10-01
- DOI
- https://doi.org/10.1016/j.heliyon.2024.e39392
- Citations
- 3
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.33