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- Title
低深度全基因组测序技术在复发性流产遗传学 病因诊断中的应用.
- Authors
纪桢; 李晓洲; 王秀艳; 刘蓝泽; 孟凡荣; 琚端
- Abstract
Objective To investigate the application value and significance of low depth genome-wide copy number variation sequencing (CNV-seq) in the diagnosis of genetic etiology of recurrent spontaneous abortion by comparing differences of chromosome abnormalities and copy number variation in recurrent spontaneous abortion (RSA) and sporadic abortion (SA). Methods A total of 402 aborted tissue from 158 RSA patients and 244 SA patients were collected for CNV-seq detection. The chromosome karyotypes in peripheral blood of couples with suspected chromosomal abnormality were detected with high resolution. Results In 402 samples, 2 cases were failed, and the detection success rate was 99.5% (400/402). A total of 238 (59.5%) chromosome abnormalities were detected in 400 samples, including 212 (89.1%) chromosome number abnormalities, 25 (10.5%) pathogenic copy number variation and 1 (0.4%) uniparental disomy. There were no significant differences in the overall incidence rate of chromosome abnormality, aneuploid abnormality and triploid between the two groups. The proportion of pathogenic copy number variation in chromosome abnormalities was significantly higher in the RSA group than that in the SA group (P<0.05). A total of 4 balanced translocation carriers were detected by high-resolution peripheral blood karyotype analysis. During the age range of 35-39, the rate of chromosomal abnormality was significantly higher in the SA group than that in the RSA group (P<0.05). In both the RSA group and the SA group, the chromosomal abnormality rate in the first trimester abortion was significantly higher than that in the second trimester abortion, while the rate of POCs chromosomal abnormalities was higher in the SA group than that in the RSA group in the first trimester abortion (P<0.05). Conclusion CNV-seq can accurately diagnose the numerical chromosomal abnormalities and the duplication/deletion of chromosome fragments in embryos, which is equally important in the genetic etiology diagnosis of RSA and SA, and can provide sufficient evidence for the guidance of reproduction.
- Publication
Tianjin Medical Journal, 2024, Vol 52, Issue 5, p490
- ISSN
0253-9896
- Publication type
Article
- DOI
10.11958/20231247