低深度全基因组测序在复发性流产患者中的临床应用

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Abstract Objective To explore the clinical application of copy number variation sequencing (CNV-seq) in patients with recurrent abortion (RSA). Methods A total of 420 couples with RSA treated in the Second Affiliated Hospital of Fujian Medical University from January 2018 to October 2021 were selected for peripheral blood chromosome examination and embryo abortion chromosome culture,using CNV-seq to detect embryo abortion chromosome,explore the clinical application of chromosome detection in patients with recurrent abortion. Results There were 42 abnormal karyotypes in peripheral blood of 420 couples with RSA,the positive rate was 10.0%.Among 420 couples of RSA,383 couples were successful,113 couples were abnormal karyotype,the positive rate was 29.5%.Abnormal results were found in 362 couples (86.2%) and negative results were found in 58 couples (13.8%) of 420 embryos stained by CNVseq.In 420 couples of RSA,the incidence of chromosomal abnormalities was 34.2% in the age group ≥40 years old.According to the number of abortions,the highest rate of abnormal karyotype after three abortions was 37.8%. Conclusion Chromosome abnormality of peripheral blood and embryo is an important cause of RSA.With the increase of age,the incidence of RSA is also increasing.It is of great significance to take effective genetic counseling and intervention measures to guide marriage and breeding and improve the quality of the next generation.

Key words： Copy number variation sequencing Recurrent abortion Clinical application Chromosomal abnormality

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	ZHENG Xiaowei
	HUANG Xiaolan
	CHEN Xiaoqing

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ZHENG Xiaowei,HUANG Xiaolan,CHEN Xiaoqing. Clinical application of copy number variation sequencing in patients with recurrent abortion[J]. 中国当代医药, 2022, 29(14): 5-9.

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https://www.dangdaiyiyao.com/EN/ OR https://www.dangdaiyiyao.com/EN/Y2022/V29/I14/5

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