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| Analysis of application of highthroughput sequencing technology for detecting chromosome of villi tissue of patients with missed abortion |
| 1.Sichuan Chengdu Women and Children 's Hospital, Chengdu, Sichuan, 610091; 2. The Second Hospital of West China University of Sichuan |
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Abstract Objective: To analyze the new generation of highthroughput sequencing technology used to detect chromosomes of villus tissue of patients with missed abortion, and to provide the evidence for clinical diagnosis and treatment. Methods: The patients with missed abortion who underwent surgical abortion were selected as the research objects, and the villi specimens of all included women were collected and conserved in -80 degree refrigerator, and the total amount and concentration of DNA were detected in thawing the villus. The whole genome sequencing library was constructed and sequenced by Illumina HiSeq platform. Bioinformatic analysis of data by highthroughput sequencing was performed to obtain variation data of chromosome copy number, and then the chromosomal characteristics of villus tissue of patients with missed abortion were analyzed. Results: A total of 54 villi specimens of patients with missed abortion were detected successfully, and the success rate was 88.5%. The rate of chromosomal abnormalities was 77.8% (42/54). The number of abnormal chromosomes of patients was 31 (73.8%, 31/42), which included aneuploidy mainly, 1 cases with 15 and 18 trisomy abnormalities, and 11 cases with chromosomal structural abnormalities (26.2%, 11/42). The rate of chromosome aneuploidy was 57.4% (31/54), of which X chromosome (22.6%) and trisomy 16 were the most common (22.6%). 1 cases of chromosome double trisomy (1/54). Conclusion: In the villi of patient with missed abortion, chromosome abnormality occupies a large proportion, most of which are aneuploidy, and nearly 50% of which are X chromosome and trisomy 16. High throughput sequencing can not only detect chromosomal number or structural abnormalities, but also can detect microdeletion or microrepetition of 100kb chromosome fragments, which have good technical advantage.
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