探讨胎儿染色体低比例嵌合检测方法的应用研究  

Study on the method of detecting the low proportion mosaicism of fetal chromosomes

作　　者：李炎炎 吴汉锋 甘桂春 邓小彬 LI Yanyan;WU Hanfeng;GAN Guichun;DENG Xiaobin(Genetic Laboratory,Guigang Maternal and Child Health Care Hospital,Guigang,Guangxi 537100,China)

机构地区：[1]贵港市妇幼保健院遗传实验室,广西贵港537100

出　　处：《中国优生与遗传杂志》2024年第12期2639-2643,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨染色体核型分析与拷贝数变异测序(CNV-seq)在胎儿染色体非整倍体低比例嵌合诊断中的临床应用价值。方法选取2019年2月至2023年12月贵港市妇幼保健院优生遗传科门诊就诊并具备产前诊断指征的孕妇,行羊水穿刺,对联合应用核型分析和CNV-seq技术的胎儿染色体低比例嵌合体病例检测结果进行回顾性分析。结果3571例羊水标本中CNV-seq检出13例嵌合体,阳性检出率为0.36%(13/3571);核型分析检出嵌合17例,阳性检出率为0.48%(17/3571);两种方法共检出20例,检出率为0.56%(20/3571),其中3例核型分析20个分裂相未见异常,经CNV-seq提示低嵌合后加大核型分析才被检出。结论染色体核型分析联合CNV-seq技术有效提高胎儿染色体非整倍体低比例嵌合阳性检出率,降低低比例嵌合体漏检风险,为产前遗传学诊断与遗传咨询提供更为准确临床依据。Objective To explore the clinical value of chromosome karyotype analysis and copy number variation sequencing(CNV-seq)in the diagnosis of fetal aneuploidy low proportion mosaicism.Methods From February 2019 to December 2023,pregnant women with prenatal diagnostic indications were selected from the outpatient department of Eugenic Genetics of Guigang Maternal and Child Health Care Hospital to undergo amniocentesis,and the detection results of fetal chromosome low proportion chimera cases combined with karyotype analysis and CNV-seq technology were retrospectively analyzed.Results Among 3571 amniotic fluid samples,13 cases of chimera were detected by CNV-seq,and the positive detection rate was 0.36%(13/3571).Karyotype analysis detected mosaicism in 17 cases,the positive rate was 0.48%(17/3571).A total of 20 cases were detected by the two methods,with a detection rate of 0.56%(20/3571).Among them,3 cases showed no abnormality in 20 division phases by karyotype analysis,while CNV-seq showed a low proportion of chimerism,which was detected only after additional karyotype analysis.Conclusion Chromosome karyotype analysis combined with CNV-seq technology can effectively improve the positive detection rate of low-proportion chimera in fetal chromosome aneuploidy.Reduce the risk of missing detection of low-proportion chimera,and provide more accurate clinical basis for prenatal genetic diagnosis and genetic counseling.

关 键 词：嵌合体 出生缺陷 核型分析 拷贝数变异测序 

分 类 号：R71[医药卫生—妇产科学]