Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study
This retrospective study demonstrates TA-seq as a potentially effective method for prenatal screening of UPD-related ImpDis. Its cost-effectiveness, adaptability, and reliability make it promising for future clinical use. However, limitations inherent in this study-including its retrospective design, lack of trio validation, and chromosomal bias among true positives-warrant further investigation before broader application of TA-seq.
Authors
- Xuejing Sun
- Ping Sun (ORCID: https://orcid.org/0000-0002-1466-863X)
- Yueyue Hu
- Panlai Shi (ORCID: https://orcid.org/0000-0001-5826-1340)
- Sheng‐Wen Huang (ORCID: https://orcid.org/0000-0003-0394-240X)
- Jie Li (ORCID: https://orcid.org/0000-0001-9575-4232)
- Youhua Wei
- Kai Mu
- Hua Jin (ORCID: https://orcid.org/0000-0002-6787-3872)
- Xueyan Wang (ORCID: https://orcid.org/0000-0003-1277-9165)
- Shuangfeng Chen
- Chunyan Jin (ORCID: https://orcid.org/0000-0002-8536-0288)
- Lina Liu (ORCID: https://orcid.org/0000-0002-1035-9821)
- Bing Wang (ORCID: https://orcid.org/0000-0002-0144-5111)
- Bin Zhang (ORCID: https://orcid.org/0000-0003-3516-8105)
- Weiqiang Liu (ORCID: https://orcid.org/0000-0001-9376-9158)
- Yi Zhou (ORCID: https://orcid.org/0000-0003-4997-3412)
- Xue Yang (ORCID: https://orcid.org/0000-0001-6053-8855)
- Yin Feng (ORCID: https://orcid.org/0000-0002-1598-3156)
- Ning Liu (ORCID: https://orcid.org/0000-0003-0072-7210)
- Xiangdong Kong (ORCID: https://orcid.org/0000-0003-4364-6672)
- Lan Yang (ORCID: https://orcid.org/0000-0003-4278-2728)
Institutions
- Sun Yat-sen University (CN)
- Nantong University (CN)
- Zaozhuang Municipal Hospital (CN)
- Shenzhen Maternity and Child Healthcare Hospital (CN)
- Nanjing Drum Tower Hospital (CN)
- Jingzhou Maternal and Child Health Hospital (CN)
- Second Affiliated Hospital of Zhengzhou University (CN)
- The Affiliated Taizhou People's Hospital of Nanjing Medical University (CN)
- Maternal and Child Health Hospital of Sichuan Province (CN)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
- People's Hospital of Shiyan (CN)
- Guizhou Provincial People's Hospital (CN)
- Shandong Maternal and Child Health Hospital (CN)
- First Affiliated Hospital of Zhengzhou University (CN)
- Zaozhuang University (CN)
- Liaocheng People's Hospital (CN)
- Qilu Hospital of Shandong University (CN)
- Shandong First Medical University (CN)
- Nanjing Medical University (CN)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2025-11-11
- DOI
- https://doi.org/10.1186/s12967-025-07329-x
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00