染色体核型分析与CNV-seq在高危孕妇产前诊断中的临床应用  

Clinical application of chromosomal karyotyping combined with copy number variation sequencing in prenatal diagnosis of high⁃risk pregnancies

作　　者：魏诗雨 袁媛 任敏 庞春蓉 陈茂梅 涂素华 WEI Shiyu;YUAN Yuan;REN Min;PANG Chunrong;CHEN Maomei;TU Suhua(School of Nursing,South-west Medical University,Luzhou 646000,Sichuan,China;Obstetrics Department,The Affiliated Hospital of Southwest Medical University,Luzhou 646000,Sichuan,China;Nursing Department,The Affiliated Hospital of Southwest Medical University,Luzhou 646000,Sichuan,China)

机构地区：[1]西南医科大学护理学院,四川泸州646000 [2]西南医科大学附属医院产科,四川泸州646000 [3]西南医科大学附属医院护理部,四川泸州646000

出　　处：《中国校医》2024年第9期694-697,共4页Chinese Journal of School Doctor

基　　金：泸州市重点研发科技计划项目(2022-SYF-52);2021年度西南医科大学校级科研项目(2021ZKQN075)。

摘　　要：目的探讨染色体核型分析联合基因拷贝数变异检测(CNV-seq)技术在产前诊断中的应用价值。方法选取2022年7月—2023年6月于西南医科大学附属医院行羊水穿刺术的976例胎儿染色体异常高风险的单胎妊娠孕妇为研究对象。孕妇的羊水标本采用染色体核型分析和CNV-seq进行检测,比较2种方法对异常染色体的检出率。结果976例羊水标本中,核型分析异常检出率为4.30%(42/976),CNV-seq异常检出率为10.35%(101/976)。与核型分析比较,CNV-seq多检测出66例染色体拷贝数变异(CNVs),其中有20例致病性CNVs(pCNVs)。核型分析检出6例平衡性结构异常和1例嵌合体,而CNV-seq未检出。2种方法联合使用共检出异常染色体108例,异常检出率11.07%。核型分析、CNV-seq、联合检测的异常检出率比较,差异有统计学意义(χ^(2)=34.364,P<0.001),核型分析的异常检出率低于CNV-seq、联合检测,差异均有统计学意义(χ^(2)=26.267、31.457,P均<0.001)。结论核型分析与CNV-seq的联合应用,对于提高染色体微缺失/微重复的检出率具有重要的意义。尤其是夫妻一方或双方为平衡性核型变化携带者,联合应用这2种方法具有较高的临床价值。Objective This study explored the application value of chromosomal karyotyping combined with copy number variation sequencing(CNV⁃seq)in prenatal diagnosis.Methods A total of 976 singleton pregnant women with high risk of fetal chromosomal abnormalities who visited the Southwest Medical University Hospital for amniocentesis from July 2022 to June 2023 were studied.Amniotic fluid samples were subjected to chromosome karyotyping and CNV⁃seq,and the detection rates of abnormalities were compared between techniques.Results In the 976 amniotic samples,the abnormality detection rate with chromosomal karyotype analysis was 4.30%(42/976),and that with low⁃depth whole genome sequencing was 10.35%(101/976).CNV⁃seq detected 66 more cases of chromosome copy number variations(CNVs)than chromosomal karyotyping.Of these,20 cases were pathogenic copy number variations(pCNVs).Chromosomal karyotype analysis detected six cases of abnormally balanced structure and one case of chimerism not detected by CNV⁃seq.Combined use of both tech⁃niques detected abnormalities in 108 cases,with an abnor⁃mality rate of 11.07%.Statistically significant differences were observed in the abnormal detection rates among karyo⁃typing,CNV⁃seq,and karyotyping combined with CNV-seq(χ2=34.364,P<0.001).The abnormality detection rate was lower with karyotyping than CNV⁃seq and combined test⁃ing,and the differences were statistically significant(χ2=26.267,31.457,both P<0.001).Conclusions The combined application of karyotyping and CNV⁃seq is valuable in improv⁃ing the detection rate of chromosomal microdeletion/microduplication.The combined use of these two techniques has particu⁃larly high clinical value when one or both spouses are carriers of balanced karyotype changes.

关 键 词：产前诊断 羊膜腔穿刺术 核型分析 妊娠 

分 类 号：R714[医药卫生—妇产科学]