期刊
FRONTIERS IN GENETICS
卷 13, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2022.938183
关键词
chromosomal abnormalities; conventional karyotyping analysis; chromosomal microarray analysis; copy number variants; genome sequencing; prenatal diagnosis
资金
- National Key Research and Development Program of China
- Sichuan Province Science and Technology Support Program
- [2021YFC1005304]
- [2021YFS0078]
- [2022YFS0078]
This review provides an updated summary of the application of chromosomal microarray analysis (CMA) for prenatal diagnosis, as well as discusses the challenges it faces with the emergence of genome sequencing techniques. Currently, CMA is suggested as the priority testing methodology in prenatal setting, but pregnant women may benefit from genome sequencing in the near future.
Introduction: For decades, conventional karyotyping analysis has been the gold standard for detecting chromosomal abnormalities during prenatal diagnosis. With the development of molecular cytogenetic methods, this situation has dramatically changed. Chromosomal microarray analysis (CMA), a method of genome-wide detection with high resolution, has been recommended as a first-tier test for prenatal diagnosis, especially for fetuses with structural abnormalities. Methods: Based on the primary literature, this review provides an updated summary of the application of CMA for prenatal diagnosis. In addition, this review addresses the challenges that CMA faces with the emergence of genome sequencing techniques, such as copy number variation sequencing, genome-wide cell-free DNA testing, and whole exome sequencing. Conclusion: The CMA platform is still suggested as priority testing methodology in the prenatal setting currently. However, pregnant women may benefit from genome sequencing, which enables the simultaneous detection of copy number variations, regions of homozygosity and single-nucleotide variations, in near future.
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