四维超声STIC联合SNP array技术在孕24~28周胎儿心脏发育畸形产前筛查中的价值探讨

Value of four-dimensional ultrasound STIC combined with SNP array technology in prenatal screening of fetal cardiac developmental abnormalities at 24-28 weeks of pregnancy

目的探讨四维超声时空关联成像(spatio-tem-poral image correlation,STIC)技术联合单核苷酸多态性微阵列(single nucleotide polymorphism microarray,SNP array)分析技术对孕24~28周胎儿心脏发育畸形的诊断效能。方法选取2021年5月—2023年12月在河南中医药大学第五临床医学院进行孕检且提示可能存在胎儿心脏发育畸形的245例孕24~28周孕妇,均行四维超声STIC技术检查,再对胎儿进一步行SNP array技术检查。另以引产或死产胎儿尸体病理活检或分娩活产新生儿超声心动图诊断结果为“金标准”,分析四维超声STIC技术及其联合SNP array技术在胎儿心脏发育畸形筛查中的效能。结果在245例疑似孕妇中,经引产或死产尸解以及分娩活产新生儿超声心动图检查,证实存在心脏发育畸形的有60例经四维超声STIC技术检查,判断胎儿心脏发育畸形的有55例,与“金标准”相比,四维超声STIC技术诊断胎儿心脏发育畸形的灵敏度、特异度、准确度、阳性预测值、阴性预测值分别为85.00%、97.84%、94.69%、92.73%、95.26%;对胎儿进一步行SNP array技术检查,拷贝数变异(copy number variation,CNV)检出率为10.20%(25/245),其中致病性CNV检出率为56.00%(14/25)、临床意义不明确CNV检出率28.00%(7/25)、良性CNV检出率16.00%(4/25);四维超声STIC联合SNP array技术诊断胎儿心脏畸形的灵敏度、特异度、准确度、阳性预测值、阴性预测值分别为96.67%、98.38%、97.96%、95.08%、98.91%,其中联合诊断灵敏度、准确度、阳性预测值、阴性预测值高于四维超声STIC技术单独诊断,联合特异度与四维超声STIC技术单独诊断基本相当。结论四维超声STIC联合SNP array技术对孕24~28周胎儿心脏发育畸形的诊断效能更高,可提高诊断精确度。

Objective To investigate the diagnostic efficacy of four-dimensional ultrasound spatio-tem-poral image correlation(STIC)combined with single nucleotide polymorphism microarray(SNP array)in fetal cardiac malformations at 24-28 weeks of pregnancy.Methods Totally 245 cases of pregnant women at 24-28 weeks of gestation who underwent pregnancy examination in the Fifth Clinical Medical College of Henan University of Chinese Medicine from May 2021 to December 2023 and suggested that there might be fetal heart malformation were selected,and all of them were underwent four-dimensional ultrasound STIC examination,then the fetuses were further examined by SNP array technique.In addition,the results of autopsy pathological biopsy of induced labor or stillbirth fetus or echocardiography of live birth newborn were regarded as the"gold standard",and the efficacy of four-dimensional ultrasound STIC technology and it combined with SNP array technique in screening fetal cardiac developmental abnormalities were analyzed.Results Among the 245 suspected pregnant women,60 cases were confirmed to have cardiac malformation by autopsy of induced labor or stillbirth and echocardiography of live birth newborns.By four-dimensional ultrasound STIC technology examination,there were 55 cases of fetal cardiac malformation.Compared with the"gold standard",the sensitivity,specificity,accuracy,positive predictive value and negative predictive value of four-dimensional ultrasound STIC technology in diagnosing fetal cardiac malformations were 85.00%,97.84%,94.69%,92.73%and 95.26%respectively.The SNP array technology was further performed of fetuses,and the detection rate of copy number variation(CNV)was 10.20%(25/245),and the detection rate of pathogenic CNV was 56.00%(14/25),and the detection rate of CNV with unclear clinical significance was 28.00%(7/25)and that of benign CNV was 16.00%(4/25).The sensitivity,specificity,accuracy,positive predictive value and negative predictive value of four-dimensional ultrasound STIC combined with SNP array technology in diagnosing fetal cardiac malformations were 96.67%,98.38%,97.96%,95.08%and 98.91%respectively,and the sensitivity,accuracy,positive predictive value and negative predictive value of combined diagnosis were higher than those of four dimensional ultrasound STIC technology for individual diagnosis,while the specificity of combined diagnosis was basically equivalent to that of four-dimensional ultrasound STIC technology for individual diagnosis.Conclusion The diagnostic efficiency of four-dimensional ultrasound STIC combined with SNP array technology for fetal cardiac malformation at 2428 weeks of gestation is higher,which can improve the diagnostic accuracy.