Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications
ES-CNV/SNV analysis enhances prenatal diagnostic precision by detecting compound CNV/SNV combinations that are undetectable by standard testing. Recurrent anomalies demonstrated a greater diagnostic benefit than sporadic single-system or multisystem anomalies, underscoring the utility of this method in high-risk cases. This study broadens the prenatal phenotypic spectrum and deepens our understanding of developmental mechanisms.
Authors
- Ying Peng (ORCID: https://orcid.org/0000-0002-0602-6063)
- Hua Jin (ORCID: https://orcid.org/0000-0002-1316-5512)
- Liangpu Xu (ORCID: https://orcid.org/0000-0001-8815-2735)
- Hongna Wang (ORCID: https://orcid.org/0000-0003-3785-8548)
- Rui Xiao (ORCID: https://orcid.org/0000-0002-9477-1054)
- Hongmei Zhuang (ORCID: https://orcid.org/0000-0002-6771-9349)
- Qingwei Qi (ORCID: https://orcid.org/0000-0001-6072-982X)
- Lin Zhang (ORCID: https://orcid.org/0000-0002-3767-0249)
- Haibo Li (ORCID: https://orcid.org/0000-0002-9309-6632)
- Ting Wang (ORCID: https://orcid.org/0000-0002-8591-1748)
- Na Hao (ORCID: https://orcid.org/0000-0002-7389-9825)
- Minyue Dong (ORCID: https://orcid.org/0000-0002-4344-7924)
- Xiangyu Zhu (ORCID: https://orcid.org/0009-0003-0203-0342)
- Ying You
- Fengqun Dong
- Kun Ma
- Xiaoxiao Xie (ORCID: https://orcid.org/0000-0002-7938-4232)
- Jian Gao (ORCID: https://orcid.org/0000-0002-2855-4799)
- Jianping Xiao (ORCID: https://orcid.org/0000-0001-8403-6913)
- Xiya Zhou (ORCID: https://orcid.org/0000-0002-7738-962X)
- Yiyang Jiang
- Ying Chang
Institutions
- Fujian Medical University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking University (CN)
- Peking Union Medical College Hospital (CN)
- Chinese PLA General Hospital (CN)
- Hospital of Hebei Province (CN)
- Jinan Maternity And Care Hospital (CN)
- Ningbo Center for Disease Control and Prevention (CN)
- Nanjing Maternity and Child Health Care Hospital (CN)
- Ningbo No. 2 Hospital (CN)
- Zhangzhou Municipal Hospital of Fujian Province (CN)
- Beijing Enterprises (China) (CN)
- National Center on Birth Defects and Developmental Disabilities (US)
- Hebei General Hospital (CN)
- Nanjing Drum Tower Hospital (CN)
- Suzhou Municipal Hospital (CN)
- Peking University People's Hospital (CN)
- Women's Hospital, School of Medicine, Zhejiang University (CN)
- Hangzhou DAC Biotech (China) (CN)
- Tianjin Hospital (CN)
- Shandong Maternal and Child Health Hospital (CN)
- Shandong First Medical University (CN)
- Hunan Provincial Maternal and Child Health Hospital (CN)
- Nanjing Medical University (CN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1002/pd.70006
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.49
Funders
- Peking Union Medical College Hospital