高通量测序技术应用于稽留流产遗传因素的分析

doi:10.20047/j.issn1673-7210.2023.18.24

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Abstract Objective To analyze the genetic factors in missed abortion villi tissue by high-throughput sequencing technique. Methods A retrospective analysis was performed on 91 patients who underwent palace clearing operation due to missed abortion in the First Affiliated Hospital of Tsinghua University from June 2017 to June 2020. The abortive villi tissue was analyzed by high-throughput sequencing, and the changes of villus chromosome number and copy number variation were analyzed. Results High-throughput sequencing was performed on the missed abortion villi tissue of 91 cases. A total of 70 cases (76.08%) had chromosome abnormality, including 39 cases with abnormal chromosome number, 5 cases with chimera, and 26 cases with copy number variation. There were 14 cases of micro duplication, 6 cases of micro deletion, and 6 cases of mixed type. Conclusion Chromosome abnormality of embryo is the main cause of missed abortion, mainly aneuploidy. High-throughput sequencing copy number variation is applied to the detection of villi chromosomes, which has high sensitivity, can increase the detection rate of chromosomal abnormalities, and is helpful to clarify the cause of missed abortion.

Key words： Missed abortion Villous chromosome High-throughput sequencing Copy number variation

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	ZHANG Kang1 LI Xiangli2 JIANG Guoqing1

Cite this article:

ZHANG Kang1 LI Xiangli2 JIANG Guoqing1. Analysis of genetic factors in missed abortion by high-throughput sequencing technique[J]. 中国医药导报, 2023, 20(18): 108-111.

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https://www.yiyaodaobao.com.cn/EN/10.20047/j.issn1673-7210.2023.18.24 OR https://www.yiyaodaobao.com.cn/EN/Y2023/V20/I18/108

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