扩展性无创产前基因检测在产前诊断中的应用  

Application of Extended Non-invasive Prenatal Genetic Testing in Prenatal Diagnosis

作　　者：闻柳 王常宏[1] 韩雪 兰文娟 宛杨[1] WEN Liu;WANG Changhong;HAN Xue;LAN Wenjuan;WAN Yang(Department of Prenatal Diagnosis Center,Fuyang People′s Hospital,Fuyang 236000,China)

机构地区：[1]阜阳市人民医院产前诊断中心,安徽阜阳236000

出　　处：《医学综述》2023年第15期3085-3089,3095,共6页Medical Recapitulate

基　　金：安徽省重点研究和开发计划项目(201904a07020012)。

摘　　要：目的探讨扩展性无创产前基因检测(NIPT-plus)在产前诊断中的应用价值。方法选取2020年4月至2021年12月在阜阳市人民医院就诊的159例NIPT-plus结果提示高风险的孕妇,所有孕妇均行羊膜腔穿刺术,同时进行染色体核型分析联合染色体微阵列分析(CMA)或染色体拷贝数变异(CNV)测序(CNV-seq)并进行随访,对所有孕妇的检测结果和妊娠结局进行汇总分析。结果159例NIPT-plus高风险孕妇中,21三体36例、18三体11例、13三体2例、性染色体数目异常58例、其他染色体数目异常30例、CNV 22例。159例孕妇羊水样本通过染色体核型分析联合CMA/CNV-seq检测共检出70例与NIPT-plus结果一致的异常样本和4例非NIPT-plus提示的其他异常。NITP-plus对21三体、18三体、13三体、性染色体数目异常、其他染色体数目异常、CNV的阳性预测值分别为75.0%(27/36)、72.7%(8/11)、0(0/2)、36.2%(21/58)、6.7%(2/30)和54.5%(12/22)。4例非NIPT-plus提示的其他异常的CNV片段大小均小于3 Mb,包括1例致病性变异、3例临床意义未明变异。结论NIPT-plus具有较高的准确度,对常见的染色体非整倍体异常和拷贝数变异具有一定的预测价值,同时建议NIPT-plus提示高风险的孕妇,运用染色体核型分析联合CMA或CNV-seq进行进一步的产前诊断,以确定胎儿是否存在染色体变异。Objective To investigate the clinical value of extended non-invasive prenatal genetic testing(NIPT-plus)in the prenatal diagnosis.Methods A total of 159 pregnant women treated at Fuyang People′s Hospital and with high risk according to NIPT-plus results from Apr.2020 to Dec.2021 were included.All the pregnant women underwent amniocentesis,chromosome karyotype analysis,chromosome microarray analysis(CMA)or chromosome copy number variation(CNV)sequencing(CNV-seq),and were followed up,and their test results and pregnancy outcomes were summarized and analyzed.Results Among the 159 high-risk pregnant women tested by NIPT-plus,36 cases were trisomy 21,11 cases were trisomy 18,2 cases were trisomy 13,58 cases were abnormal in the number of sex chromosomes,30 cases were abnormal in the number of other chromosomes,and 22 cases were abnormal in CNV.A total of 159 amniotic fluid samples from the pregnant women were detected by chromosome karyotype analysis combined with CMA/CNV-seq detection,and 70 abnormal samples were consistent with the results of NIPT-plus while 4 other abnormal samples were not indicated by NIPT-plus.The positive predictive value of NIPT-plus for trisomy 21,trisomy 18,trisomy 13,sex chromosome,other aneuploidy and CNV were 75.0%(27/36),72.7%(8/11),0(0/2),36.2%(21/58),6.7%(2/30)and 54.5%(12/22).The size of other abnormal CNV fragments in the 4 cases suggested by non-NIPT-plus was all less than 3 Mb,including 1 case with pathogenic variation and 3 cases with unknown clinical significance.Conclusion NIPT-plus has high accuracy,and has certain predictive value for common chromosome aneuploidy abnormalities and chromosome copy number variation.It is suggested that pregnant women with abnormal NIPT-plus results should use karyotype analysis technology combined with CMA or CNV-seq for further prenatal diagnosis,to determine if there is chromosomal variation in the fetus.

关 键 词：扩展性无创产前基因检测 染色体核型分析 染色体微阵列分析 染色体拷贝数变异测序 产前诊断 

分 类 号：R715.5[医药卫生—妇产科学]