Identification of maternal <sup>G</sup> γ( <sup>A</sup> γδβ) <sup>0</sup> thalassemia through retrospective reanalysis of prenatal cfDNA sequencing data
<sup>G</sup>γ(<sup>A</sup>γδβ)<sup>0</sup> thalassemia is not uncommon in China, and repurposed NIPS methodology for maternal genomic analysis in detecting <i>HBB</i> gene deletions is a reliable method for identifying maternal carriers of this disease.
Authors
- Xujie Zhu
- Liang‐Hao Hu (ORCID: https://orcid.org/0000-0001-7535-7475)
- Jian Ran
- Weiqiang Liu (ORCID: https://orcid.org/0000-0002-2536-9176)
- K Zeng
- Yanmei Zhu (ORCID: https://orcid.org/0009-0007-7922-1795)
- Yuanyuan Pei (ORCID: https://orcid.org/0000-0001-5753-8715)
- Fengxiang Wei (ORCID: https://orcid.org/0000-0003-3703-926X)
- Wen Liangzhen (ORCID: https://orcid.org/0000-0002-6368-1005)
- Jiatong Zhong
Institutions
- Longgang Central Hospital (CN)
- Shenzhen Maternity and Child Healthcare Hospital (CN)
- National Center on Birth Defects and Developmental Disabilities (US)
Publication Details
- Journal
- Annals of Medicine
- Published
- 2025-12-02
- DOI
- https://doi.org/10.1080/07853890.2025.2596498
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00