Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment
This study demonstrates the clinical feasibility of grandparent-assisted haplotype construction for SMA families without probands and enables accurate early prenatal diagnosis of SMA in first-trimester pregnancies.
Authors
- Shanshan Gao (ORCID: https://orcid.org/0000-0003-1209-3403)
- Huanyun Li
- Shuang Li (ORCID: https://orcid.org/0000-0002-6828-5925)
- Xiangdong Kong
- Jingqi Zhu
- Zhenhua Zhao
- Weiqin Tang
- Xinyu Fu
- Jun Feng
- Di Wu
Institutions
- First Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Annals of Medicine
- Published
- 2026-01-05
- DOI
- https://doi.org/10.1080/07853890.2025.2610892
- Citations
- 1
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 36.93