胎儿先天性矫正型大动脉转位的产前超声心动图诊断

目的探讨并总结胎儿先天性矫正型大动脉转位（cc-TGA）产前超声心动图图像特征。 方法回顾分析2011年1月至2017年12月黑龙江省哈尔滨市红十字中心医院行产前超声心动图诊断，并经引产后病理解剖或产后小儿超声心动图确诊的5例cc-TGA胎儿超声心动图影像，总结其超声心动图特征、诊断及鉴别诊断方法。 结果5例cc-TGA胎儿中，4例引产后病理解剖证实为cc-TGA SLL型；1例活产后经小儿超声心动图证实为cc-TGA IDD型，小儿产后90 d状态良好。5例cc-TGA胎儿中2例行胎儿染色体检查，染色体核型正常。5例cc-TGA胎儿产前超声心动图四腔心切面与上腹部横切面联合应用、左右心室流出道切面、主动脉弓与动脉导管弓切面、三血管切面、三血管气管切面具有特征性表现。产前超声心动图显示5例cc-TGA胎儿合并多种心内外畸形：4例SLL型胎儿中3例合并室间隔缺损，2例合并肺动脉闭锁，1例合并肺动脉狭窄，2例合并永存左上腔，2例合并房室瓣返流，1例合并心内膜垫缺损；1例SLL型胎儿合并心外多发畸形，包括双侧脑积水、脊柱裂、双侧足内翻；1例IDD型胎儿合并心内多发畸形，包括室间隔缺损、肺动脉轻度狭窄、右位主动脉弓，合并心外畸形有腹腔脏器镜像反位。 结论掌握cc-TGA各切面超声心动图特征可以有效发现、诊断本病。胎儿cc-TGA预后差异很大，取决于相关缺陷的严重程度。

Prenatal ultrasonographic diagnosis of fetal congenitally corrected transposition of the great arteries

ObjectiveTo analyze and summarize the prenatal echocardiographic features of fetal congenitally corrected transposition of the great arteries (cc-TGA). MethodsThe echocardiographic images of five cases of fetal cc-TGA diagnosed and confirmed by the postnatal pathology or postpartum pediatric echocardiography at the Harbin Red Cross Center Hospital from January 2011 to December 2017 were retrospectively analyzed to explore the prenatal echocardiography characteristics, diagnosis, and differential diagnosis of cc-TGA. ResultsOf the five cases of cc-TGA , four were confirmed by anatomical pathology after induced labor, and one was confirmed by postpartum echocardiography (the child was in good condition 90 days after delivery). Two of the five cc-TGA cases underwent chromosome examination, and the karyotype was normal. With regard to prenatal echocardiography in the five cases, the four-chamber heart view combined with upper abdominal cross-section, the left and right ventricular outflow view, the view of the aortic arch and ductal arch, the three-vessel view (3VV), and the three-vessel trachea view (3VT) showed characteristic manifestations. Prenatal echocardiography revealed multiple intracardiac and extracardiac malformations; in four cases of SLL type, ventricular septal defect (VSD) was observed in three cases, pulmonary artery atresia in two, pulmonary artery stenosis in one, persistent left superior vena in two, atrioventricular regurgitation in two, and endocardial cushion defect (ECD) in one; one case of SLL type was complicated with multiple extracardiac malformations, including lateral ventricles hydrocephalus, spina bifida, and strephenopodia in both feet; one case of IDD was associated with multiple intracardiac malformations, including ventricular septal defect, mild pulmonary artery stenosis, right aortic arch, and extracardiac malformations with situs inversus of abdominal organs. ConclusionUnderstanding the features of echocardiography in various views of cc-TGA can help effectively detect and diagnose this disease. The prognosis of fetal cc-TGA is very different, depending on the severity of relevant defects.