Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA
Our findings demonstrate the potential of HaploNIPD as a robust and versatile platform for NIPT-M capable of noninvasive genome-wide fetal haplotyping and simultaneous detection of aneuploidies and MMS, offering a scalable solution for comprehensive prenatal genetic diagnosis.
Authors
- Shuyuan Li (ORCID: https://orcid.org/0000-0002-1105-5571)
- Yi Wu (ORCID: https://orcid.org/0000-0003-2375-4473)
- Yiyao Chen (ORCID: https://orcid.org/0000-0003-4319-9403)
- Jingmin Yang
- Li Gao (ORCID: https://orcid.org/0000-0003-2927-1827)
- Hongjun Fei (ORCID: https://orcid.org/0000-0002-7028-5457)
- Xinrong Zhao
- Niu Li (ORCID: https://orcid.org/0000-0002-9583-3173)
- Renyi Hua
- Hui Xu (ORCID: https://orcid.org/0000-0002-7366-3089)
- Yiming Wu (ORCID: https://orcid.org/0000-0002-2571-8065)
- Lanlan Zhang (ORCID: https://orcid.org/0000-0003-0246-9841)
- Xu Han (ORCID: https://orcid.org/0000-0003-0068-0117)
- Yanlin Wang (ORCID: https://orcid.org/0000-0003-0995-2393)
- Chunxin Chang
- Jian Wang (ORCID: https://orcid.org/0009-0004-4420-1928)
Institutions
- Tongji University (CN)
- Shanghai Jiao Tong University (CN)
- Shanghai Veterinary Research Institute (CN)
- International Peace Maternity & Child Health Hospital (CN)
- Shanghai Open University (CN)
- Health Biomed (China) (CN)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-12-04
- DOI
- https://doi.org/10.1186/s13073-025-01588-5
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.49