四维STIC联合SNP array技术对胎儿心脏发育畸形的诊断效能  

Efficacy of four-dimensional STIC combined with SNP array in fetal cardiac malformations

作　　者：刘继忆 田术 王燕 Liu Jiyi;Tian Shu;Wang Yan(Chongqing Jiangjin District Maternal and Child Health Care Hospital,402260)

机构地区：[1]重庆市江津区妇幼保健院,402260

出　　处：《现代科学仪器》2024年第2期51-54,共4页Modern Scientific Instruments

基　　金：四川省医学(青年创新)科研课题(编号:Q20054)项目名称:多DWI模型定量评价凶险性前置胎盘胎盘功能的研究。

摘　　要：探讨四维超声时空关联成像(STIC)技术联合单核苷酸多态性微阵列分析(SNP array)技术对孕24~28周胎儿心脏发育畸形的诊断效能。首先选取进行孕检且提示可能存在胎儿心脏发育畸形的80例孕24~28周孕妇,均行二维超声心动图及四维超声STIC技术检查,再对提示为畸形的胎儿行SNP array技术检查。然后以超声心动图诊断结果为“金标准”,分析二维超声心动图、四维STIC技术单独及联合诊断孕24~28周胎儿心脏发育畸形的灵敏度、特异度、准确度。结果表明在二维超声检查的基础上,辅助应用四维超声STIC技术对孕24~28周胎儿心脏发育畸形进行筛查,可提高诊断效能,进一步行SNP array技术,可为产前诊断与临床干预提供遗传学依据。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 gestation.80 cases of pregnant women at 24-28 weeks of gestation who underwent pregnancy examination in our hospital from February 2021 to January 2022 and suggested that there might be fetal heart malformation were selected,and all of them were underwent two-dimensional echocardiography and four-dimensional ultrasound STIC examination,further SNP array examination was performed on fetuses with malformations indicated by the above imaging examinations.In addition,the results of echocardiography as the"gold standard",and the sensitivity,specificity and accuracy of two-dimensional echocardiography and four-dimensional ultrasound STIC in the diagnosis of fetal cardiac malformations were analyzed.The results show that,On the basis of two-dimensional ultrasound,the auxiliary application of four-dimensional ultrasound STIC to screen fetal cardiac malformations at 24-28 weeks of gestation can improve the diagnostic efficiency.Further application of SNP array technology can provide genetic basis for prenatal diagnosis and clinical intervention.

关 键 词：四维超声时空关联成像技术 单核苷酸多态性微阵列分析技术 胎儿 心脏发育畸形 诊断效能 

分 类 号：R445.1[医药卫生—影像医学与核医学]