无创产前检测技术在胎儿染色体拷贝数变异中的应用  

Application of NIPT in fetal chromosome copy number variation

作　　者：谭玲珑 黄婷婷[1] 黎俏 邹永毅 刘艳秋[1] TAN Linglong;HUANG Tingting;LI Qiao;ZOU Yongyi;LIU Yanqiu(Center of Medical Genetics,Jiangxi Maternity and Child Health Hospital,Jiangxi Provincial Key Laboratory of Birth Defects Prevention and Control,Jiangxi Provincial Management Center of Birth Defects Prevention and Control,Nanchang 330006,China)

机构地区：[1]江西省妇幼保健院医学遗传中心,江西省出生缺陷防治管理中心,江西省出生缺陷防控重点实验室,南昌330006

出　　处：《实用医学杂志》2021年第22期2934-2938,共5页The Journal of Practical Medicine

基　　金：江西省医学领先学科建设计划项目;江西省出生缺陷防控重点实验室建设项目(编号:20202BCD42017)。

摘　　要：目的探讨无创产前检测(NIPT)在除21、18、13号染色体及性染色体外其他染色体拷贝数变异中的应用。方法选取2019年1月至2021年1月NIPT结果提示除21、18、13号染色体及性染色体异常外其他染色体拷贝数变异(CNVs)的样本共114例,在知情同意原则下行羊膜腔穿刺术,同时行染色体核型分析及染色体微阵列分析(CMA),并进行随访。结果 NIPT检测提示染色体拷贝数变异的114例孕妇中,共检出与NIPT结果较一致的CNVs 37例,阳性率达32.46%(37/114),其中临床意义不明确变异12例,占32.43%(12/37)。随访数据显示,22例选择终止妊娠,90例正常出生,2例正常妊娠。结论 NIPT对CNVs具有一定的预测价值,同时建议行产前诊断应用染色体核型分析联合CMA以明确诊断,根据结果必要时行父母比对,为临床遗传咨询提供意见及依据。Objective To explore the application value of noninvasive prenatal testing(NIPT)in the detection of copy number variation on chromosomes except chromosome 21,18,13 and sex chromosomes. Methods A total of 114 patients with CNV except chromosome 21,18,13 and sex chromosome abnormalities were selected from January 2019 to January 2021. Amniocentesis was performed under the informed consent principle. Chromosome karyotype analysis and chromosome microarray analysis(CMA)were performed at the same time and patients’conditions were followed up. Results Among 114 pregnant women with chromosomal copy number variation detected by NIPT,a total of 37 cases of CNVs,representing a percentage of 32.46%(37/114),were detected which were consistent with the results of NIPT,among which 12 cases of CNVs,representing a percentage of 32.43%(12/37),had unclear clinical significance. Follow-up data showed that 22 pregnancies were terminated,and 90 births were normal while 2 pregnancies were normal. Conclusion NIPT suggested microdeletion and microduplication of fetal chromosomes,so prenatal diagnosis combined with chromosomal karyotype analysis and CMA was recommended to confirm the diagnosis. Parental comparison was performed according to the results if necessary,so as to provide advice and basis for clinical genetic counseling.

关 键 词：无创产前检测 染色体核型分析 染色体微阵列分析 拷贝数变异 

分 类 号：R715.5[医药卫生—妇产科学]