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

李怡梅 ¹杨小风 ¹张颖 ¹娄欢 ¹武明莉¹

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作者信息

1. 郑州大学附属郑州中心医院妇产科,河南郑州 450000
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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Pear-son 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.

Abstract

Objective:To analyze the correlation between amniotic fluid single nucleotide polymorphism microar-ray(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 select-ed as the study object.All pregnant women underwent amniotic fluid SNP-Array and TORCH testing.The relation-ship between SNP-Array,TORCH detection results and fetal critical VM was analyzed by Pearson correlation analy-sis.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.Re-sults:The SNP-Array detection results of the 80 critical VM fetuses showed that the detection rate of fetal pathogen-ic 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 du-plication.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 abnormali-ties and TORCH-IgM antibody positivity were positively correlated with fetal critical VM(P＜0.05).The results of Logistic regression analysis showed that abnormal SNP-Array detection and positive TORCH detection were risk fac-tors for adverse pregnancy outcomes in critical VM fetuses(P＜0.05).Conclusion:Critical VM fetal amniotic flu-id has abnormal SNP-Array detection and a high positive rate of TORCH-IgM antibody detection,and the detection of pathogenic chromosomal abnormalities by SNP-Array and TORCH-IgM antibody positivity are related to the oc-currence of fetal critical VM and adverse pregnancy outcomes.

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

Key words

critical ventricular widening/single nucleotide polymorphism array/five aspects of eugenics

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基金项目

河南省卫生和计划生育委员会资助项目(2018020797)

出版年

2024

东南大学学报(医学版)

东南大学

东南大学学报(医学版)

CSTPCD

影响因子：1.374

ISSN：1671-6264

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