11~13^(+6)周胎儿大动脉转位的超声诊断及预后分析

Ultrasonographic diagnosis and prognosis of transposition of the great arteries at 11-13^(+6)weeks gestation

目的探讨孕11~13^(+6)周超声诊断胎儿大动脉转位(TGA)的价值。方法选择2015年1月至2022年3月于广西壮族自治区妇幼保健院行妊娠早期超声结构筛查的孕11~13^(+6)周胎儿进行前瞻性研究,采用三切面筛查法对胎儿心脏结构进行筛查,疑似TGA胎儿随访其后续超声检查、染色体、基因检查结果及妊娠结局,总结11~13^(+6)周TGA超声特征及预后。结果超声检出TGA 21例,其中完全型TGA 20例,矫正型TGA 1例,漏诊2例。超声检出的21例均在灰阶流出道切面显示两大动脉平行征。6例合并非整倍体超声软指标异常;2例合并心外畸形;13例行染色体及微阵列检查,4例染色体异常,均合并软指标异常,1例合并心外畸形。20例引产,1例流产,2例足月分娩,其中1例新生儿期术前死亡,1例存活。结论11~13^(+6)周规范化的超声扫描对诊断TGA具有较高的准确性,合并软指标异常或心外畸形其染色体异常发生率高。

Objective To investigate the value of ultrasonography in diagnosis of transposition of great arteries of the fetus at 11-13^(+6) weeks gestation.Methods A prospective study was conducted on fetuses screened by ultrasound in the first trimester in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2015 and March 2022.Fetal heart structure was screened by three-section screening method.Fetuses with suspected transposition of the great arteries at 11-13^(+6) weeks gestation underwent followed-up ultrasound examination,chromosome and gene test results.The ultrasound characteristics and prognosis pregnancy outcomes were summarized.Results Twenty-one cases of transposition of the great arteries were detected by ultrasonography,including complete transposition of great arteries(20 cases)and congenitaly corrected transposition of the great arteries(1 case).Two cases were miss diagnosed.Twenty-one cases showed parallel signs of two major arteries on grayscale outflow section at 11-13^(+6) weeks gestation.There were 6 cases with aneuploid ultrasonographic soft markers abnormality,2 cases with extracardiac malformation.Chromosome and microarray analysis were performed in 13 cases.4 cases with chromosomal abnormality.Four cases of chromosomal abnormalities were associated with ultrasonographic soft markers abnormality,and 1 case with extracardiac malformation.In the 23 cases,20 cases were induced,1 miscarried,and 2 delivered to term.Among the fetuses delivered at term,1 case died before neonatal operation and 1 case survived.Conclusions Standardized ultrasound scan at 11-13^(+6) weeks has high accuracy in diagnosis of transposition of the great arteries.And the incidence of chromosomal abnormality is high with ultrasonographic soft markers abnormality or extracardiac malformation.