孕中期超声联合母体血清DGCR8、TPM4水平对胎儿心脏畸形的诊断价值  

The Diagnostic Value of Mid Pregnancy Ultrasound Combined with Maternal Serum DGCR8 and TPM4 Levels for Fetal Heart Malformations

作　　者：吴立娟 高含 Wu Lijuan;Gao Han(Department of Ultrasound,Jiangsu Subei People's Hospital,Yangzhou,Jiangsu 225001,China)

机构地区：[1]江苏省苏北人民医院超声科,江苏扬州225001

出　　处：《四川医学》2025年第1期28-32,共5页Sichuan Medical Journal

摘　　要：目的探讨孕中期超声联合母体血清迪乔治综合征危象区基因8(DGCR8)、原肌球蛋白4(TPM4)水平对胎儿心脏畸形的诊断价值。方法选取2018年8月至2022年10月于我院接诊胎儿疑似有心脏畸形的479例孕妇。孕中期检测血清DGCR8、TPM4水平及四维时间-空间关联成像(4D-STIC)超声检查,受试者工作特性(ROC)曲线分析血清DGCR8、TPM4对胎儿心脏畸形的诊断价值;采用四格表法分析4D-STIC超声检查以及4D-STIC超声检查联合血清DGCR8、TPM4对胎儿心脏畸形的诊断价值。结果479例高度怀疑胎儿心脏畸形的孕妇中,确诊心脏畸形63例,主要以室间隔缺损(30.16%)为主;胎儿心脏畸形组血清DGCR8、TPM4水平显著低于胎儿发育正常组(P<0.05);血清DGCR8诊断胎儿心脏畸形的曲线下面积为0.834,敏感度为76.19%,特异度为93.27%,最佳截断值为0.89;血清TPM4诊断胎儿心脏畸形的曲线下面积为0.882,敏感度为88.89%,特异度为69.95%,最佳截断值为1.12 fmol/ml;超声检查结果显示,胎儿心脏畸形的阳性91例,阴性388例;三项联合检测的敏感度、准确度均显著高于血清DGCR8、TPM4、超声检查各项单独诊断(P<0.05),三项联合检测的特异度均显著高于TPM4、超声检查单独诊断(P<0.05),三项联合检测的漏诊率均显著低于DGCR8、TPM4、超声检查单独诊断(P<0.05),三者联合检测与金标准的一致性较高(Kappa=0.726,P<0.001)。结论胎儿心脏畸形的孕妇孕中期血清DGCR8、TPM4水平降低,且4D-STIC超声联合血清DGCR8、TPM4水平诊断胎儿心脏畸形的效能较高,有助于早期筛查疑似胎儿心脏畸形,对减少母婴伤害,提高人口质量具有重要意义。Objective To explore the diagnostic value of mid pregnancy ultrasound combined with maternal serum levels of DiGeorge's syndrome critical region 8(DGCR8)and tropomyosin 4(TPM4)for fetal heart malformations.Methods From August 2018 to October 2022,479 pregnant women with suspected fetal cardiac abnormalities who were accepted by our hospital were selected.The serum DGCR8 and TPM4 levels were detected and the four dimensions spatiotemporal image correlation(4D-STIC)ultrasound examination was implemented in mid pregnancy,receiver operating characteristic(ROC)was applied to analyze the diagnostic value of serum DGCR8 and TPM4 for fetal heart malformation;Fourfold table method was applied to analyze the diagnostic value of 4D-STIC ultrasound examination and the combination of 4D-STIC ultrasound examination with serum DGCR8 and TPM4 for fetal heart malformations.Results Among the 479 pregnant women who were highly suspected of fetal cardiac malformations,63 cases were diagnosed with cardiac malformations,mainly ventricular septal defect(30.16%);the serum levels of DGCR8 and TPM4 in the fetal heart malformation group were obviously lower than those in the normal fetal development group(P<0.05);the area under the curve of serum DGCR8 for diagnosing fetal heart abnormalities was 0.834,with a sensitivity of 76.19%,a specificity of 93.27%,and an optimal cutoff value of 0.89;The area under the curve of serum TPM4 for diagnosing fetal heart abnormalities was 0.882,with a sensitivity of 88.89%,a specificity of 69.95%,and an optimal cutoff value of 1.12 fmol/ml;The results of ultrasound examination showed that 91 cases were positive for fetal cardiac malformation and 388 cases were negative;The sensitivity and accuracy of the three combined tests were obviously higher than those of serum DGCR8,TPM4,and ultrasound alone(P<0.05),the specificity of the three combined tests was obviously higher than that of TPM4 and ultrasound alone(P<0.05),the missed diagnosis rates of the three combined tests were obviously lower than those of DG

关 键 词：4D-STIC超声 迪乔治综合征危象区基因8 原肌球蛋白4 胎儿心脏畸形 

分 类 号：R714.53[医药卫生—妇产科学]