CNV-seq联合核型分析在扩展性NIPT结果异常孕妇产前诊断中的临床应用  

Clinical application of CNV-seq combined with karyotyping in prenatal diagnosis of pregnant women with abnormal results from NIPT-plus

作　　者：王常宏[1] 梅莉[1] 李宏 栾珊珊 卢佳丽 王培 闻柳 韩雪 李小娜 张宁芝[1] 宛杨[1] WANG Chang-hong;MEI Li;LI Hong;LUAN Shan-shan;LU Jia-li;WANG Pei;WEN Liu;HAN Xue;LI Xiao-na;ZHANG Ning-zhi;WAN Yang(Department of Obstetrics and Gynecology,Fu Yang People's Hospital,Fuyang,Anhui 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：《中国妇幼保健》2024年第3期404-408,共5页Maternal and Child Health Care of China

基　　金：安徽省卫生健康委科研项目(AHWJ2021b119)。

摘　　要：目的 探索在扩展性非侵入性产前检测(NIPT-plus)筛查结果异常孕妇中应用拷贝数变异测序(CNV-seq)技术联合染色体核型分析进行产前诊断的临床价值。方法 收集2021年1月—2022年12月因NIPT-plus结果异常至阜阳市人民医院产前诊断中心自愿接受羊膜腔穿刺术并选择进行羊水核型联合CNV-seq检测的孕妇233例,统计病例产前诊断结果,并对所有病例进行随访。结果 233例羊水样本中检出86例核型异常,其中非整倍体66例、染色体结构异常9例、嵌合体13例,其中2例同时存在结构异常和嵌合。CNV-seq检出胎儿染色非整倍体同核型结果一致,12例嵌合体核型和CNV-seq均检出。1例平衡易位嵌合体CNV未检出,1例XO嵌合及1例T15嵌合核型未检出。2例性染色体相关的复杂嵌合异常,核型提示体内存在2种异常细胞系,孕妇家庭最终决定终止妊娠。CNV-seq技术在未检出非整倍体异常及嵌合体病例中检出致病及可能致病性拷贝数变异(pCNVs)13例,检出231处意义未明(VUS)的CNVs,共报告21处,占9.1%(21/231)。核型检出结构畸形病例中,有3例CNV-seq结果未见异常,孕妇及家属均决定继续妊娠;13例CNV-seq检出pCNVs的病例中,有11例核型未检出异常,占84.6%(11/13)。结论 CNV-seq技术联合核型分析在NIPT-plus结果异常孕妇中可提供更精确的产前诊断结果,但在选择前应仔细产前咨询,告知孕妇家属此技术的局限性。Objective To explore the clinical value of using CNV-seq technology combined with karyotyping for prenatal diagnosis in pregnant women with abnormal NIPT plus results.Methods 233 pregnant women who voluntarily underwent amniocentesis at the genetics and prenatal diagnosis center of Fu Yang People's Hospital from January 2021 to December 2022 due to abnormal NIPT-plus results and the results of karyotype and CNV-seq testing amniotic fluid were collected.The prenatal diagnosis results of these cases were analyzed and all cases were followed up.Results Among the 233 amniotic fluid samples,86 cases of karyotype abnormalities were detected,including 66 cases of aneuploidy,9 cases of chromosomal structural abnormalities,and 13 cases of chimerism.Among them,2 cases had both structural abnormalities and chimerism.The results of fetal chromosomal aneuploidy and karyotype detected by CNV-seq were consistent,and 12 chimeric karyotypes and CNV-seq were detected.1 case of balanced translocation chimeric CNV was not detected,1 case of XO chimeric and 1 case of T15 chimeric karyotype was not detected.Two cases of complex chimeric abnormalities related to sex chromosomes,with karyotypes indicating the presence of two abnormal cell lines in the body,ultimately led to termination of pregnancy by the pregnant woman's family.CNV-seq technology detected 13 pathogenic and potentially pathogenic CNVs among cases without aneuploid abnormalities or chimerism,and 31 CNVs with VUS,a total of 21 reported cases,accounting for 9.1%(21/231).Among the cases with structural abnormalities detected by karyotyping,there were 3 cases with no abnormal CNV-seq results,and both pregnant women and their families decided to continue their pregnancy;Among the 13 cases of pathogenic CNVs detected by CNV-seq,11 cases 84.6%(11/13)had no abnormal karyotype.Conclusion The combination of CNV-seq technology and karyotype analysis can provide more accurate prenatal diagnosis results in pregnant women with abnormal NIPT plus results.However,careful prenatal consul

关 键 词：拷贝数变异测序 核型分析 扩展性非侵入性产前检测 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]