羊水单核苷酸多态性微阵列芯片、TORCH检测结果与临界性脑室增宽胎儿及其妊娠结局的相关性  

The correlation between amniotic fluid single nucleotide polymorphism microarray chips,TORCH detection results and critical ventricular widening in fetuses and its pregnancy outcomes

作　　者：李怡梅 杨小风 张颖 娄欢 武明莉 LI Yimei;YANG Xiaofeng;ZHANG Ying;LOU Huan;WU Mingli(Department of Obstetrics and Gynecology,Zhengzhou Central Hospital Affiliated to Zhengzhou University,Zhengzhou 450000,China)

机构地区：[1]郑州大学附属郑州中心医院妇产科,河南郑州450000

出　　处：《东南大学学报（医学版）》2024年第5期730-735,共6页Journal of Southeast University(Medical Science Edition)

基　　金：河南省卫生和计划生育委员会资助项目(2018020797)。

摘　　要：目的:分析羊水单核苷酸多态性微阵列芯片(SNP-Array)、优生五项(TORCH)检测结果与临界性脑室增宽(VM)胎儿及其妊娠结局的相关性。方法:选取2014年10月至2021年10月在本院孕检、经超声检查提示胎儿临界性VM的80例孕妇作为研究对象,所有孕妇均行羊水SNP-Array、TORCH检测。采用Pearson相关分析SNP-Array、TORCH检查结果与及胎儿发生临界性VM的关系。观察妊娠结局,以条件Logistic回归分析SNP-Array、TORCH检测结果与临界性VM胎儿不良妊娠结局的关系。结果:80例临界性VM胎儿的SNP-Array检测结果显示,胎儿致病性染色体异常检出率为11.25%(9/80),其中5例染色体微缺失,4例染色体微重复;可能致病性染色体异常检出率为3.75%(3/80),其中2例染色体微缺失,1例染色体微重复;意义不明确染色体异常检出率为1.25%(1/80),为染色体微重复。TORCH-免疫球蛋白M(IgM)抗体总阳性率为15.00%(12/80),其中弓形虫(TOX)-IgM、风疹病毒(RV)-IgM、巨细胞病毒(CMV)-IgM、单纯疱疹病毒(HSV)-IgM阳性率分别为5.00%(4/80)、1.25%(1/80)、5.00%(4/80)、3.75%(3/80)。经Pearson相关性分析,SNP-Array检出致病性染色体异常、TORCH-IgM抗体阳性与胎儿发生临界性VM呈正相关(P<0.05);Logistic回归分析结果显示,SNP-Array检出异常、TORCH检出阳性是临界性VM胎儿不良妊娠结局的危险因素(P<0.05)。结论:临界性VM胎儿羊水存在SNP-Array检出异常情况,TORCH-IgM抗体检出阳性率较高,SNP-Array检出致病性染色体异常、TORCH-IgM抗体阳性与胎儿临界性VM的发生及其不良妊娠结局存在一定的关系。Objective:To analyze the correlation between amniotic fluid single nucleotide polymorphism microarray(SNP-Array)and five aspects of eugenics(TORCH)detection results and critical ventriculomegaly(VM)fetuses and its pregnancy outcomes.Methods:Eighty pregnant women who underwent prenatal examinations and diagnosed with fetal critical VM through ultrasound examination in our hospital from October 2014 to October 2021 were selected as the study object.All pregnant women underwent amniotic fluid SNP-Array and TORCH testing.The relationship between SNP-Array,TORCH detection results and fetal critical VM was analyzed by Pearson correlation analysis.The pregnancy outcomes was observed,and the relationship between SNP-Array,TORCH detection results and adverse pregnancy outcomes of critical VM fetuses was analyzed by conditional Logistic regression analysis.Results:The SNP-Array detection results of the 80 critical VM fetuses showed that the detection rate of fetal pathogenic chromosomal abnormalities was 11.25%(9/80),including 5 cases of chromosomal microdeletions and 4 cases of chromosomal microduplications.The detection rate of possible pathogenic chromosomal abnormalities was 3.75%(3/80),with 2 cases of chromosomal microdeletions and 1 case of chromosomal microduplication.The detection rate of chromosomal abnormalities with unclear significance was 1.25%(1/80),indicating chromosomal micro duplication.The detection rate of chromosomal abnormalities with unclear significance was 1.25%(1/80),indicating chromosomal micro duplication.The total positive rate of TORCH-immunoglobulin M(IgM)antibodies was 15.00%(12/80),with toxoplasma gondii(TOX)-IgM,rubella virus(RV)-IgM,cytomegalovirus(CMV)-IgM and herpes simplex virus(HSV)-IgM positive rates of 5.00%(4/80),1.25%(1/80),5.00%(4/80)and 3.75%(3/80)respectively.According to Pearson correlation analysis,SNP-Array detection of pathogenic chromosomal abnormalities and TORCH-IgM antibody positivity were positively correlated with fetal critical VM(P<0.05).The results of Logistic regre

关 键 词：临界性脑室增宽 单核苷酸多态性微阵列芯片 优生五项 

分 类 号：R714.5[医药卫生—妇产科学] R737.11[医药卫生—临床医学]