超声联合染色体检测对胎儿心血管畸形的诊断价值

The Diagnostic Value of Fetal Heart Ultrasound Combined with Chromosome Detection for Fetal Cardiovascular Malformations

目的:探讨超声联合染色体检测对胎儿心血管畸形的诊断价值。方法:2017年6月到2020年12月选择在本院诊治的高危孕妇117例作为研究对象,所有孕妇都给予胎儿心脏超声检查与羊膜穿刺染色体检查,判断胎儿心血管畸形情况。结果:在117例孕妇中,胎儿心脏超声检出胎儿心血管畸形37例,占比31.6%,前三位主要为室间隔缺损、左上腔静脉、右锁骨下动脉。羊膜腔穿刺术检出32例染色体异常胎儿,占比27.4%,其中染色体数目异常30例,染色体结构异常2例,前三位分别为21-三体、13-三体与18-三体。超声检查胎儿心血管畸形37例中,染色体异常30例;超声检查胎儿心血管正常80例中,染色体异常2例,对比差异有统计学意义(P<0.05)。联合诊断为胎儿心血管畸形39例,随访后确诊为胎儿心血管畸形40例,超声联合染色体检测对胎儿心血管畸形的敏感性与特异性为100.0%(39/39)和98.7%(77/78)。结论:胎儿心脏超声联合染色体检测对胎儿心血管畸形的诊断具有很高敏感性与特异性,可尽最大可能提高出生缺陷儿的检出率,有很好的应用价值。

Objective:To explore the diagnostic values of fetal heart ultrasound combined with chromosome detection for fetal cardiovascular malformations.Methods:From June 2017 to December 2020,117 cases of high-risk pregnant women who were diagnosed and treated in this hospital were selected as the research subjects.All pregnant women were given fetal heart ultrasound and amniocentesis chromosome examination,and were to determine the fetal cardiovascular abnormalities.Results:There were 37 cases of fetal cardiovascular malformations were detected by fetal heart ultrasound in the 117 cases of high-risk pregnant women,accounted for 31.6%.The top three were mainly ventricular septal defect,left superior vena cava,and right subclavian artery.Amniocentesis detected 32 cases of fetuses with chromosomal abnormalities,accounted for 27.4%that 30 cases of abnormal chromosome number and 2 cases of abnormal chromosome structure.The top three were 21-trisomy,13-trisomy,and 18-trisomy.In the 37 cases of fetal cardiovascular malformations under fetal heart ultrasound examination,there were 30 cases of chromosomal abnormalities.In the 80 cases of fetal cardiovascular abnormalities under fetal heart ultrasound examination,there were 2 cases had chromosomal abnormalities that compared the difference were statistically significant(P<0.05).There were 39 cases of fetal cardiovascular malformations were jointly diagnosed and 40 cases were diagnosed as fetal cardiovascular malformations after followed-up.The sensitivity and specificity of fetal heart ultrasound combined with chromosome detection for fetal cardiovascular malformations were 100.0%(39/39)and 98.7%(77/78).Conclusion:Fetal heart ultrasound combined with chromosome detection has high sensitivity and specificity in the diagnosis of fetal cardiovascular malformations.It can increase the detection rate of birth defects as much as possible,and has very good application value.