摘要
目的探讨低深度全基因组测序(CNV-seq)在复发性流产(RSA)患者中的临床应用。方法选取2018年1月至2021年10月在福建医科大学附属第二医院就诊的420对RSA患者夫妇进行外周血染色体检查、胚胎流产物染色体培养,利用CNV-seq检测胚胎流产物染色体,探求染色体检测在RSA患者中的临床应用。结果420例RSA患者外周血染色体有42对异常核型,阳性率10.0%;420对RSA胚胎组织染色体,成功383对,有113例异常核型,阳性率29.5%;利用CNV-seq检测420对胚胎染色体,异常结果362对,占86.2%,阴性结果58对,占13.8%;420例RSA孕妇中,年龄≥40岁组染色体异常核型发生率34.2%;根据流产次数,流产3次的异常核型比率最高,为37.8%。结论外周血染色体和胚胎染色体异常是RSA的重要原因,随着年龄的增加,RSA的发生率也在递增,采取有效的遗传咨询及干预措施对婚育指导和提高下一代质量有重要意义。
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 CNV-seq.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.
作者
郑小蔚
黄小兰
陈小青
ZHENG Xiaowei;HUANG Xiaolan;CHEN Xiaoqing(Department of Clinical Laboratory,the Second Affiliated Hospital of Fujian Medical University,Fujian Province,Quanzhou362000,China;Department of Reproductive Medicine,the Second Affiliated Hospital of Fujian Medical University,Fujian Province,Quanzhou362000,China;Department of Immunology,the Second Affiliated Hospital of Fujian Medical University,Fujian Province,Quanzhou362000,China)
出处
《中国当代医药》
CAS
2022年第14期5-9,共5页
China Modern Medicine
基金
福建省卫生健康科研人才培养项目(2019-1-49)
福建医科大学启航基金项目(2017XQ1103)。
关键词
低深度全基因组测序
复发性流产
临床应用
染色体异常
Copy number variation sequencing
Recurrent abortion
Clinical application
Chromosomal abnormality
