Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort
This prospective cohort study provides the largest prenatal genomic and prognostic analysis of FMIC to date, revealing potential genotype-phenotype associations, pathogenic pathways, and prognostic markers. These findings enhance understanding of FMIC mechanisms and provide essential evidence for prenatal genetic counseling and individualized risk assessment.
Authors
- Qiuxia Yu (ORCID: https://orcid.org/0000-0003-3962-7655)
- Lushan Li (ORCID: https://orcid.org/0000-0001-9450-6376)
- Xing Wei (ORCID: https://orcid.org/0000-0001-7946-8148)
- Ru Huang (ORCID: https://orcid.org/0000-0002-0770-0726)
- Can Liao (ORCID: https://orcid.org/0000-0003-0463-7124)
- Fang Fu
- Xiangyi Jing
- Hang Zhou
- Chen Chen
- Dongzhi Li
- Xinyue Tan
- Fucheng Li
- Luming Sun
- Ru Li
Institutions
- XinHua Hospital (CN)
- Guangzhou Women and Children Medical Center (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2026-02-03
- DOI
- https://doi.org/10.1186/s40246-026-00911-4
- Primary Topic
- Microtubule and mitosis dynamics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Basic and Applied Basic Research Foundation of Guangdong Province