Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study
Exome sequencing significantly enhances the detection of monogenic disorders in macrocephalic fetuses compared with CMA, irrespective of isolated or non-isolated cases. These clinical features and phenotypes are essential for assessing monogenic disorders and for prenatal counseling and evaluations of macrocephalic fetuses.
Authors
- Yongling Zhang (ORCID: https://orcid.org/0000-0002-4036-5923)
- Lushan Li (ORCID: https://orcid.org/0000-0001-9450-6376)
- Guilan Chen (ORCID: https://orcid.org/0009-0003-6202-8375)
- Jiaming Lu (ORCID: https://orcid.org/0009-0001-6888-8849)
- Huanyi Chen (ORCID: https://orcid.org/0000-0003-0220-8692)
- Ruibin Huang (ORCID: https://orcid.org/0000-0001-8929-7805)
- Shujuan Yan (ORCID: https://orcid.org/0000-0001-5676-9052)
- Xiangyi Jing (ORCID: https://orcid.org/0000-0001-7703-723X)
- Chunling Ma
- Qiuxia Yu (ORCID: https://orcid.org/0000-0003-4621-7523)
- Hang Zhou (ORCID: https://orcid.org/0000-0002-1233-5065)
- Tingying Lei (ORCID: https://orcid.org/0000-0003-3423-0755)
- Chen Chen (ORCID: https://orcid.org/0000-0003-1765-8899)
- Liyuan Liu (ORCID: https://orcid.org/0000-0002-9862-7471)
- Ru Li (ORCID: https://orcid.org/0000-0002-9756-793X)
- Fei Guo (ORCID: https://orcid.org/0000-0001-8346-0798)
- Fucheng Li (ORCID: https://orcid.org/0000-0002-5245-7542)
- Jin Han (ORCID: https://orcid.org/0000-0001-9298-8551)
- Can Liao (ORCID: https://orcid.org/0000-0002-8411-136X)
- Qiong Deng (ORCID: https://orcid.org/0000-0002-7262-2699)
- Fang Fu
- Shanshan Mei (ORCID: https://orcid.org/0000-0002-0230-0010)
Institutions
- Southern Medical University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-05-22
- DOI
- https://doi.org/10.1002/pd.6818
- Citations
- 2
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 6.99
Funders
- National Natural Science Foundation of China
- Basic and Applied Basic Research Foundation of Guangdong Province