Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing
Our findings strengthen that CMA is a rapid and effective genetic etiology diagnosis tool for miscarriages, producing the highest chromosomal abnormality detection rate at a gestational age of 10-11<sup>+6</sup> weeks. In addition, several gene variants were identified using WES, which may expand the mutation spectrum for miscarriage and provide more valuable information in understanding the phenotype and genotype correlations.
Authors
- Jianlong Zhuang (ORCID: https://orcid.org/0000-0001-8087-205X)
- Ling Gu (ORCID: https://orcid.org/0000-0002-2410-1696)
- Chunnuan Chen (ORCID: https://orcid.org/0000-0002-8906-3184)
- Xiaofang Ye
- Junyu Wang
- Wanyu Fu
Institutions
- Fujian Medical University (CN)
- Fujian Women and Children Hospital (CN)
- Second Affiliated Hospital of Fujian Medical University (CN)
- Berry Oncology (China) (CN)
Publication Details
- Journal
- European journal of medical research
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1186/s40001-025-02709-x
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.49
Funders
- Huaqiao University
- Fujian Provincial Health Commission
- Fujian Provincial Health Technology Project