Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

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Abstract

Background: Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750 K array analysis. We evaluated both chromosome G-banding karyotyping data and CMA results from 2007 cases subjected to amniocentesis. Results: The detection rate of regions of homozygosity (ROH) ≥ 10 Mb was 1.8% (33/2007), with chromosome 11 being the most frequently implicated (17.1%, 6/33). There were three cases where UPD predicted an abnormal phenotype based on imprinted gene expression. Conclusion: The integration of UPD detection by CMA offers a more precise approach to prenatal genetic diagnosis. CMA proves effective in identifying ROH and preventing the birth of children affected by imprinting diseases.

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Xu, C., Li, M., Gu, T., Xie, F., Zhang, Y., Wang, D., & Peng, J. (2024). Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study. Molecular Cytogenetics, 17(1). https://doi.org/10.1186/s13039-023-00668-8

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