染色体拷贝数变异筛查在产前孕妇中的临床运用  

Clinical application of chromosome copy number variation screening in prenatal women

作　　者：冯拓宇 徐文瑜[1] 谭放 周小静 黄月娇[1] Feng Tuoyu;Xu Wenyu;Tan Fang;Zhou Xiaojing;Huang Yuejiao(Prenatal Diagnosis Center,Zhanjiang Women and Children's Health Care Hospital,Zhanjiang,Guangdong 524000,China)

机构地区：[1]湛江市妇幼保健院产前诊断中心,广东湛江524000

出　　处：《齐齐哈尔医学院学报》2025年第4期349-353,共5页Journal of Qiqihar Medical University

摘　　要：目的 研究产前孕妇检查中染色体拷贝数变异(Copy Number Variation, CNV)筛查的临床意义。方法 将2023年1—12月在本院产前诊断中心行羊膜腔穿刺的669例羊水样本同时进行低深度全基因组测序(Copy Number Variation Sequencing, CNV-seq)和染色体核型分析。结果 送检的669例羊水样本中CNV-seq检测出21三体47例,18三体13例,13三体3例,性染色体非整倍体异常18例,这些结果与显带染色体核型分析结果一致;性染色体结构异常4例;嵌合体核型6例;致病或疑似致病CNVs 18例;临床意义未明的染色体微缺失、微重复37例,其中2例经遗传咨询终止妊娠;CNV-seq检测染色体异常检出率为16.29%(109/669),CNV-seq与核型分析两者联合检测共检出135例致病性异常,异常检出率为20.18%(135/669),比使用单一的染色体G显带核型分析高出3.44%。结论 CNV-seq在高风险孕妇产前诊断中有良好的应用价值,与核型分析相结合,有助于提高遗传性疾病的诊断,提高产前诊断水平。Objective To study the clinical significance of copy number variation(CNV)screening in prenatal examinations for pregnant women.Methods A total of 669 amniotic fluid samples undergoing amniocentesis from January to December 2023 at the Prenatal Diagnosis Center of Zhanjiang Women and Children's Health Care Hospital were simultaneously subjected to low-depth whole genome sequencing(copy number variation sequencing,CNV-seq)and chromosomal karyotype analysis.Results Among the 669 amniotic fluid samples,CNV-seq detected 47 cases of trisomy 21,13 cases of trisomy 18,3 cases of trisomy 13,and 18 cases of sex chromosome aneuploidy.These results were consistent with those of banded karyotype analysis.Additionally,4 cases of sex chromosome structural abnormalities,6 cases of chimeric karyotypes,and 18 cases of pathogenic or suspected pathogenic CNVs were identified.There were 37 cases of chromosomal microdeletions and microduplications of unknown clinical significance,among which 2 pregnancies were terminated following genetic counseling.The detection rate of chromosomal abnormalities by CNV-seq was 16.29%(109/669).Combined CNV-seq and karyotype analysis detected 132 cases of pathogenic abnormalities,with an abnormal detection rate of 20.18%(135/669),which was 3.44%higher than that achieved by using single chromosome G-banding karyotype analysis alone.Conclusions CNV-seq has good application value in prenatal diagnosis of high-risk pregnant women,combined with karyotype analysis,helping to improve the diagnosis of genetic diseases and improve the level of prenatal diagnosis.

关 键 词：基因组拷贝数变异测序 染色体核型分析 产前诊断 染色体异常 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]