胎儿室间隔缺损未愈合超声心动图四腔心切面及与遗传学检测相关性  

Fetal Ventricular Septal Defect Non-closure: Four Chamber View and Its Correlation with Genetic Testing

作　　者：徐娟 赵雪飘 朱红岩 王丽杰 XU Juan;ZHAO Xuepiao;ZHU Hongyan;WANG Lijie(Department of Ultrasound,Suqian First Hospital,Suqian 223800,Jiangsu,P.R.China;Obstetrics,Suqian First Hospital,Suqian 223800,Jiangsu,P.R.China)

机构地区：[1]宿迁市第一人民医院超声科,江苏宿迁223800 [2]宿迁市第一人民医院产科,江苏宿迁223800

出　　处：《影像科学与光化学》2024年第3期209-218,共10页Imaging Science and Photochemistry

基　　金：江苏省妇幼健康科研项目(F202049)。

摘　　要：目的:探讨胎儿室间隔缺损(VSD)未愈合超声心动图四腔心切面(4CV)及与遗传学检测的相关性。方法:选取2020年1月至2022年12月于我院收治的128例胎儿VSD孕妇作为研究对象,均行超声心动图检查以及遗传学检测,以产后结果作为金标准,分为未愈合组(100例)和愈合组(22例),其余6例发生失联或者流产,对两组患者临床特点差异进行比较,采用多元Logistic回归模型分析胎儿VSD未愈合的影响因素,并构建预模型,使用ROC曲线、校准曲线及临床决策曲线评价模型的诊断效能。结果:本研究中122例胎儿VSD孕妇行超声心动图诊断VSD未愈合的准确度为97.54%,灵敏度为98.00%,特异度为95.45%,阳性预测值为98.99%,阴性预测值为91.30%,与金标准诊断VSD未愈合的一致性较高(Kappa值=0.918);超声心动图诊断胎儿VSD未愈合检出率为97.00%,4CV检出率为31.00%;122例VSD胎儿中羊水样本中,14例(11.48%)检出异常,其中4例(3.27%)有致病性,其CNVs大小均在0.38~3.23 Mb之间,均为已知的微缺失/微重复综合征,3例(2.46%)临床意义不明,但胎儿父母均未同意进行溯源性CNV检测验证;未愈合组与愈合组(宫内愈合及出生1年内)在年龄、家族遗传史、孕期早期服药、足月、临床分型、缺损口直径、胎儿贫血、胎儿出生体重、Hb、ALB、TC、铁蛋白、TBA、HCY方面差异显著(均P<0.05);多元Logistic回归模型结果表明,家族遗传史、孕期早期服药、临床分型、缺损口直径、Hb、ALB是影响VSD胎儿未愈合的关键因素(P<0.05);最后基于关键因素进行列线图预测模型构建,回归方程为Logit(P)=-2.567+0.961×X1+0.398×X2+1.553×X3+1.557×X4+0.594×X5+0.683×X6;绘制ROC曲线显示,AUC为0.886(95%CI:0.798~0.890),灵敏度为0.803,特异度为0.798;校准曲线及临床决策曲线表明该预测模型具有良好的准确度和临床实用性。结论:超声心动图4CV对胎儿VSD愈合具有一定的评估作用,超声心动图多切面结合遗�Objective:To investigate the correlation between fetal ventricular septal defect(VSD)non-closure assessed by four-chamber view(4CV)echocardiography and genetic testing.Methods:128 pregnant women with non-closure of fetal VSD admitted to our hospital from January 2020 to December 2022 were selected as the study subjects.All women underwent echocardiography and genetic testing,and were divided into the non-closure group(100 cases)and the closure group(22 cases)based on the postpartum results as the gold standard,the remaining 6 cases experienced loss of connection or miscarriage.The differences in clinical characteristics were compared,multiple Logistic regression model was used to analyze the influencing factors of fetal VSD non healing,and a predictive column chart model was constructed.The diagnostic efficacy of the model was evaluated using ROC curves,calibration curves,and clinical decision curves.Results:In this study,122 pregnant women with fetal VSD underwent echocardiography diagnosis.The accuracy,sensitivity,specificity,positive predictive value,and negative predictive value of VSD non-closure were 97.54%,98.00%,95.45%,98.99%,and 91.30%,respectively,the consistency with the gold standard diagnosis of VSD non-closure was high(Kappa value=0.918).The detection rate of fetal VSD non-closure diagnosed by echocardiography was 97.00%,and the detection rate of 4CV was 31.00%.Out of 122 amniotic fluid samples from VSD fetuses,14(11.48%)were found to be abnormal,and 4(3.27%)were found to be pathogenic.All detected pathogenic CNVs ranged in size from 0.38 to 3.23 Mb,and all were known to have microdeletion/microduplication syndrome.The clinical significance of 3(2.46%)cases was unknown,but the parents of the fetuses did not agree to the verification of traceable CNV testing.There were statistically significant differences in age,family genetic history,early pregnancy medication,term,clinical classification,defect mouth diameter,fetal anemia,fetal birth weight,Hb,ALB,TC,ferritin,TBA,and HCY between the non healing gr

关 键 词：室间隔缺损 超声心动图 四腔心切面 遗传学 相关性 

分 类 号：R714.5[医药卫生—妇产科学] R540.45[医药卫生—临床医学]