Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing
NIPT-dSGD provides accurate genetic testing for de novo and paternally inherited variants of dominant genes, including those that do not cause any ultrasound abnormalities, which could assist clinicians and families in better pregnancy management.
Authors
- Desheng Liang (ORCID: https://orcid.org/0000-0002-9451-8585)
- Jun He (ORCID: https://orcid.org/0000-0003-0270-9729)
- Zhuo Li (ORCID: https://orcid.org/0000-0001-6010-6139)
- Can Peng (ORCID: https://orcid.org/0000-0002-6815-3674)
- Juan Wen (ORCID: https://orcid.org/0000-0001-9832-2056)
- Yingdi Liu
- Siyuan Linpeng
- Lingqian Wu (ORCID: https://orcid.org/0000-0002-7070-5896)
- Fang Liu (ORCID: https://orcid.org/0000-0003-2692-0924)
- Qingxin Shi
- Hongyun Zhang (ORCID: https://orcid.org/0000-0001-7316-0855)
- Huimin Zhu (ORCID: https://orcid.org/0000-0001-7951-321X)
- Yanling Teng (ORCID: https://orcid.org/0000-0002-1327-150X)
Institutions
- Central South University (CN)
- Hunan Normal University (CN)
- Second People Hospital of Hunan (CN)
- Changsha Hospital for Maternal and Child Health Care (CN)
- Hunan Provincial Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- QJM
- Published
- 2025-02-21
- DOI
- https://doi.org/10.1093/qjmed/hcaf017
- Citations
- 3
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China