Application of Non‐Invasive Prenatal Testing for Dominant Single‐Gene Disorders in an Intermediate‐Risk Population: A Prospective Cohort Study
NIPT-SGD is a reliable and effective strategy for the detection of fetal dominant SGDs in an intermediate-risk population. However, the implementation still needs caution due to clinical ambiguity introduced by variants in fetuses without phenotypic manifestations.
Authors
- Yun Sun (ORCID: https://orcid.org/0000-0001-7990-822X)
- Xiaoying An
- Saiying Yan
- Chunna Fan
- Hang Li (ORCID: https://orcid.org/0000-0001-8904-4859)
- C. L. Philip Chen (ORCID: https://orcid.org/0000-0001-5451-7230)
- Renhua Wu (ORCID: https://orcid.org/0000-0002-7070-9707)
- Dong Liang (ORCID: https://orcid.org/0000-0003-4391-7719)
- Lijie Song
- Jingyu Zhao
- Fengchang Qiao
- Lili Zheng
- Qun Lu
- Haoyang Feng
- Yun Yang
- Ying Lin
- Yun Wu
- Zhengfeng Xu
Institutions
- BGI Group (China) (CN)
- Nanjing Children's Hospital (CN)
- Nanjing Maternity and Child Health Care Hospital (CN)
- University of Chinese Academy of Sciences (CN)
- BGI Genomics
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2026-02-17
- DOI
- https://doi.org/10.1002/pd.70101
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00