A retrospective analysis of the application value of chromosome karyotyping and chromosomal microarray analysis in prenatal diagnosis

Shen Mengjie, Chen Ke, Tong Keya, Chen Hongrui, Yang Songling, Zhang Xiaodong

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Journal of Chongqing Medical University ›› 2024, Vol. 49 ›› Issue (09) : 1181-1187. DOI: 10.13406/j.cnki.cyxb.003573
Clinical research

A retrospective analysis of the application value of chromosome karyotyping and chromosomal microarray analysis in prenatal diagnosis

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Abstract

Objective To investigate the application value of chromosome karyotyping and chromosomal microarray analysis（CMA） in prenatal diagnosis. Methods We retrospectively analyzed the karyotyping and CMA results of 1 575 amniotic fluid samples. Results The detection rates of abnormalities by karyotyping，CMA，and their combination were 5.84%，11.68%，and 13.65%，respectively. In the samples of normal karyotypes， for cases of sonographic structural anomalies，ultrasound soft markers，and normal structure on ultrasonography，the detection rates of pathogenic/likely pathogenic copy number variations were 3.03%，1.54%，and 1.10%，respectively. Conclusion Prenatal abnormality detection rate can be improved effectively by combining karyotyping and CMA，especially for cases of sonographic structural anomalies. The detection of chimerism should select appropriate technologies and samples. Special microstructural variations should be monitored for a long term.

Key words

chromosomal karyotyping / chromosomal microarray analysis / prenatal diagnosis / copy number variation

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Shen Mengjie , Chen Ke , Tong Keya , et al . A retrospective analysis of the application value of chromosome karyotyping and chromosomal microarray analysis in prenatal diagnosis. Journal of Chongqing Medical University. 2024, 49(09): 1181-1187 https://doi.org/10.13406/j.cnki.cyxb.003573

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