单核苷酸多态性微阵列芯片技术在羊水过多孕妇遗传学病因中的应用效果  

Application effect of single nucleotide polymorphism microarray technology in the genetic etiology of pregnant women with polyhydramnios

作　　者：黄婧[1] 潘平山[1] 蒙达华[1] 王林琳[1] HUANG Jing;PAN Ping-shan;MENG Da-hua;WANG Lin-lin(The Eugenic Genetic Clinic,Maternal&Child Health Care of Guangxi Zhuang Autonomous Region,Nanning 530003,Guangxi,China)

机构地区：[1]广西壮族自治区妇幼保健院优生遗传门诊,广西南宁市530003

出　　处：《广西医学》2022年第15期1701-1704,1710,共5页Guangxi Medical Journal

基　　金：广西壮族自治区卫生健康委员会自筹经费科研课题(Z20200629)。

摘　　要：目的探讨单核苷酸多态性微阵列芯片(SNP-array)技术在羊水过多孕妇遗传学病因中的应用效果。方法回顾性分析407例妊娠中晚期羊水过多孕妇的临床资料,并取孕妇的羊水或脐带血标本进行染色体核型分析与SNP-array检测。结果染色体核型分析检出染色体核型异常24例,检出率为5.90%(24/407),包括14例21-三体综合征,4例18-三体综合征,1例超雄综合征,5例染色体缺失/重复。SNP-array检测检出66例芯片异常,检出率为16.22%(66/407);66例芯片异常中,有33例致病性拷贝数变异(CNV)和33例临床意义不明CNV;33例致病性CNV中,24例的检测结果与染色体核型分析结果一致,另9例染色体核型分析未见异常,但SNP-array检测检出染色体微缺失/微重复综合征。结论对妊娠中晚期羊水过多孕妇进行SNP-array检测,有助于发现染色体核型分析无法检出的染色体亚显微结构异常,可以提高对羊水过多孕妇的胎儿遗传学病因诊断率。Objective To explore the application effect of single nucleotide polymorphism microarray(SNP-array) technology in the genetic etiology of pregnant women with polyhydramnios.Methods The clinical data of 407 pregnant women with polyhydramnios in the second or third trimester of pregnancy were retrospectively analyzed.The amniotic fluid sample or umbilical cord blood sample was obtained for the chromosome karyotype analysis and SNP-array examination.Results A total of 24 cases were detected as chromosome karyotype abnormalities by the chromosome karyotype analysis,with the detection rate of 5.90%(24/407),including 14 cases of trisomy 21 syndrome,4 cases of trisomy 18 syndrome,1 case of super-male syndrome,and 5 cases of chromosomal deletion/duplication.A total of 66 cases with chip abnormalities were detected by SNP-array examination,with the detection rate of 16.22%(66/407);moreover,among 66 cases with chip abnormalities,33 cases presented as pathogenic copy number variation(CNV),and 33 cases as CNV with unknown clinical significance.Among the 33 cases with pathogenic CNV,the detection results of 24 cases were consistent with the result of chromosome karyotype analysis,and no abnormality was observed in the remaining 9 cases by the chromosome karyotype analysis;however,SNP-array examination showed chromosome micro-deletion/micro-duplication syndrome.Conclusion Employing SNP-array examination in pregnant women with polyhydramnios in the second or third trimester of pregnancy is helpful to find out chromosomal submicroscopic structure abnormalities that cannot be detected by the chromosome karyotype analysis,and it can improve the diagnostic rate of fetal genetic etiology of pregnant women with polyhydramnios.

关 键 词：羊水过多 单核苷酸多态性微阵列芯片技术 产前诊断 遗传学病因 染色体核型分析 

分 类 号：R714[医药卫生—妇产科学]