染色体微阵列分析技术联合超声STIC技术筛查胎儿先天性心脏病及心外畸形效果

Clinical application of chromosal analysis microarray technology of fetus with congenital heart disease and extracardiac malformation screened by ultrasonic STIC technology in prenatal diagnosis

目的:探究染色体微阵列分析技术(CMA)联合四维超声时空关联成像(STIC)技术筛查胎儿先天性心脏病(CHD)及心外畸形临床效果。方法:选取2020年1月-2021年1月在本院行胎儿心脏检查的高危妊娠孕妇380例,通过二维超声检查与超声STIC技术筛查产前胎儿CHD发生情况,并与解剖病理与产后随访结果对比,分析诊断准确性。对比CAM检测、超声STIC技术筛查胎儿CHD及心外畸形致病性染色体拷贝数变异(CNV)检出情况,分析其临床价值。结果:380例高危妊娠孕妇中,检测CHD胎儿104例,共计301处心脏结构异常。以解剖病理与产后随访结果作为金标准,二维超声诊断CHD的敏感度为91.4%,特异度为98.9%;超声STIC技术诊断CHD的敏感度为96.2%,特异度为99.3%,两种超声诊断CHD有较好一致性(Kappa=0.919、0.960)。两种检查方式检测CHB的符合率、漏检率、误诊率无差异(P>0.05),检出心脏结构异常细节符合率对比有差异(χ^(2)=61.499,P<0.05)。染色体核型分析异常的100例超声STIC技术诊断CHD患者中,单一类型CHD患者66例(66.0%)、复合类型CHD患者34例(34.0%)。其中合并心外畸形CHD患者23例(23.0%),单一类型CHD合并心外畸形15例(15.0%),检出致病性CNV 6例;复合类型CHD合并心外畸形8例(8.0%),未检出致病性CNV。未合并心外畸形CHD患者77例(77.0%),单一类型CHD未合并心外畸形51例(51.0%),检出致病性CNV 6例;复合类型CHD未合并心外畸形26例(26.0%),检出致病性CNV 5例。结论:超声STIC技术在胎儿CHD及心外畸形产前诊断中具有良好价值,CMA应对染色体微重复与微缺失具有良好检出率。

Objective:To explore the clinical application of chromosomal analysis microarray(CAM)technology for fetus with congenital heart disease(CHD)and extracardiac malformation screened by ultrasonic STIC technology in the prenatal diagnosis.Methods:380 high-risk pregnant women with fetal heart examination were selected as the study subjects from January 2020 to January 2021.The situation of fetal CHD was screened by two-dimensional ultrasound and ultrasonic STIC technology,and which was compared with the results of anatomical pathology and postpartum follow-up for analyzing the accuracy of two-dimensional ultrasound and ultrasonic STIC technology.The detections of pathogenic chromosome copy number variation(CNV)of the fetus with CHD and extra-cardiac malformation were compared by between CAM technology and ultrasonic STIC technology,and their clinical values were analyzed.Results:Among 380 highrisk pregnant women,104 fetuses with CHD were detected,and a total of 301 cardiac structural abnormalities were found.The anatomical pathology and postpartum follow-up results were as the gold standard,the sensitivity and the specificity of two-dimensional ultrasound for diagnosing fetal CHD were 91.4%and 98.9%,and the sensitivity and the specificity of ultrasonic STIC for diagnosing fetal CHD were 96.2%and 99.3%,and the two kinds of ultrasonic technology for diagnosing fetal CHD had good consistency(Kappa=0.919,0.960).There were no significant differences in the coincidence rate,the missed detection rate,and the misdiagnosis rate for diagnosing fetal CHD between the two kinds of ultrasonic technology(P>0.05),but there was significant difference in the coincidence rate for diagnosing fetal cardiac structural abnormalities(χ^(2)=61.499,P<0.05).Among 100 fetal CHD with abnormal karyotype analysis,there were 66(66.0%)fetuses with single type CHD and 34(34.0%)fetuses with complex type CHD.Among the fetuses with complex type CHD,there were 23(23.0%)fetuses with CHD and extracardiac malformation,15(15.0%)fetuses with single CHD and extracardiac malformation,and 6 fetuses with pathogenic CNV.In the fetuses with complex type CHD,there were 8(8.0%)fetuses with CHD combined with extracardiac malformation and without pathogenic CNV.In the fetuses with single type CHD,there were 77(77.0%)CHD fetuses with without extracardiac malformation,51(51.0%)CHD fetuses without extracardiac malformation,and 6 fetuses with pathogenic CNV.In the 26(26.0%)fetuses with complex type CHD and extracardiac malformation,there were 5 fetuses with pathogenic CNV.Conclusion:Ultrasonic STIC technology has good diagnostic value for fetal CHD and extracardiac abnormalities during prenatal diagnosis,and CMA technique has good detectable rate for chromosome microduplication and microdeletion.