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| Application effect of copy number variation sequencing and chromosomalkaryotyping analysis in prenatal diagnosis |
| Shijiazhuang Maternal and Child Health Care Hospital, Hebei Province, 050000 |
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Abstract To investigate the application effect of copy number variation sequencing (CNVseq) combined with chromosomal karyotyping analysis in prenatal diagnosis. Methods: CNVseq technology and chromosomal karyotype analysis were used to 364 pregnant women with clinical indications requiring amniocentesis in prenatal consultation from January 2019 to December 2020. The advantages and limitations were analyzed and compared between CNVseq technology and chromosomalkaryotype analysis. Results: Among the results of 364 specimens with karyotype analysis, there were 100 cases of chromosomal abnormalities, and the detection rate was 27.5%, including 62 cases with abnormal number of chromosomes, 10 cases with abnormal chromosomal structure, 16 cases with polymorphisms of chromosomes, and 12 cases with chimerisms. The CNVseq results showed that there were 99 cases with chromosome copy number variation in 364 specimens, with a detection rate of 27.2%, including 59 cases with abnormal number of chromosomes, 2 cases with abnormal chromosome structure, and 11 cases with chimerism. 27 cases with CNVs were detected additionally. Conclusion: CNVseq technology and chromosomal karyotype analysis in prenatal diagnosis have the similar ability to detect the chromosome aneuploidy, and the combined application of both which can complement each other and can remedy their respective shortcomings, and can improve the detection rate of chromosomal abnormalities of the fetuses.
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