摘要
目的探讨染色体核型分析联合基因组拷贝数变异测序(CNV-Seq)检测在高龄孕妇羊水产前诊断中的临床应用价值。方法对2018年1月—2020年1月南京医科大学第一附属医院的368例产前诊断高龄孕妇进行分析,统计产妇的羊水细胞染色体核型结果、CNV-Seq检测结果。结果368例高龄孕妇中染色体核型检出结果异常30例,异常检出率8.2%(30/368),其中21三体7例,18三体2例,性染色体数目异常8例,嵌合体4例,染色体平衡变异6例,染色体不平衡易位变异3例。CNV-Seq检出结果异常40例,异常检出率10.9%(40/368),其中21三体7例,18三体2例,性染色体数目异常8例,嵌合体4例,≥10 Mb大片段缺失重复3例,<10Mb且致病性CNVs3例,可能致病性CNVs3例,临床意义未明CNVs10例。CNV-seq检测对染色体核型分析异常结果中的6例染色体平衡变异未检出,其余24例异常均检出,此外CNV-seq额外检测出6例致病性及可能致病性CNVs,占比1.6%(6/368)。结论染色体核型分析联合染色体拷贝数变异检测,可提高染色体异常检出率,两种方法各自有独特的优势,染色体核型分析可比较直观地检测出染色体结构变异,而CNV-Seq可检测出染色体微缺失微重复。
Objective To investigate the clinical value of karyotype analysis combined with Genome copy number variation sequencing(CNV-Seq)detection in the prenatal diagnosis of amniotic fluid in elderly pregnant women.Methods A total of 368 elderly pregnant women with prenatal diagnosis who came to the First Affiliated Hospital of Nanjing Medical University from January 2018 to January 2020 were analyzed.During the period,the results of amni⁃otic fluid cell chromosome karyotype and CNV-Seq results of the mothers were counted.Results Among the 368 el⁃derly pregnant women,30 had abnormal karyotype results,and the abnormal detection rate was 8.2%(30/368).Among them,there were 7 cases of trisomy 21,2 cases of trisomy 18,8 cases of abnormal number of sex chromosomes,4 cases of mosaicism,6 cases of chromosome balance variation,and 3 cases of chromosome imbalance variation.CNV Seq detected 40 cases with abnormal results,and the abnormal detection rate was 10.9%(40/368),including 7 cases of trisomy 21,2 cases of trisomy 18,8 cases of abnormal number of sex chromosomes,4 cases of mosaicism,3 cases of large deletion and duplication of≥10 Mb,3 cases of<10Mb and pathogenic CNVs,and 3 cases of possibly pathogenic CNVs,10 cases of CNVs of unknown clinical significance.CNV-seq detection did not detect 6 cases of chromosomal balance variation in the abnormal karyotyping results,and the remaining 24 cases were abnormal.In addition,CNV seq detected 6 additional cases of pathogenic and possibly pathogenic CNVs,accounting for than 1.6%(6/368).Con⁃clusion Chromosome karyotype analysis combined with chromosomal copy number variation detection can improve the detection rate of chromosomal abnormalities.Both methods have unique advantages.Chromosomal karyotype analysis can intuitively detect chromosomal structural variation,while CNV-Seq can detect chromosomal microdeletions and microduplications.
作者
唐艳
卢守莲
王珏
TANG Yan;LU Shoulian;WANG Jue(Prenatal Diagnosis Center of Obstetrics,the First Affiliated Hospital of Nanjing Medical University,Nanjing,Jiangsu Province,210029 China)
出处
《系统医学》
2022年第15期164-168,共5页
Systems Medicine
