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| Application of chromosome microarray analysis technology in prenatal diagnosis |
| SONG Hualei, WEI Xuegong, NIU Shufang, LIU Guo, FAN Ruiqi |
| Department of Obstetrics, Binzhou Medical University Hospital, Binzhou 256603, Shandong, P.R.China |
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Abstract Objective To investigate the clinical application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods Totally 132 pregnant women who underwent amniocentesis in Binzhou Medical University Hospital from July 2018 to June 2019 were selected as subjects. The traditional karyotype analysis and CMA test were performed in all cases. The data acquired from these two methods were statistically analyzed. Results Thirteen cases with chromosomal aneuploidies, 1 case with unbalanced rearrangements were detected both from karyotyping and CMA, while CMA could more accurately give the abnormal sites of copy number variation. Submicroscopic rearrangements with pathological significance were detected in 3 cases with normal karyotypes (+2.27%) and CNV of unclear significance were detected in 4 cases (3.03%). However, the chromosome inversion, polymorphism and balance translocation could not be detected by CMA. Conclusion Compared to karyotype analysis, CMA technology has the same detection efficiency for aneuploidy and copy number variations, while CMA has higher sensitivity and resolution, and can also find additional clinical significant gene copy number. However, the CMA analysis technique itself has limitations, so CMA cannot completely replace the traditional karyotype analysis technology.
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Received: 08 December 2019
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