Fetal common arterial trunk：echocardiographic and genetic characteristics
10.3760/cma.j.cn131148-20250207-00060
- VernacularTitle:胎儿共同动脉干的超声心动图及遗传学特征
- Author:
Lin SUN
1
;
Jiancheng HAN
;
Ying ZHAO
;
Xiaoyan HAO
;
Hairui SUN
;
Yanping RUAN
;
Tong YI
;
Xiaoyan GU
;
Chao XUE
;
Ye ZHANG
;
Zhuo CHEN
;
Yong GUO
;
Zhongshan GOU
;
Yuwei FU
;
Yihua HE
Author Information
1. 首都医科大学附属北京安贞医院心脏超声医学中心 北京安贞医院胎儿心脏病母胎医学中心，北京 100029
- Publication Type:Journal Article
- Keywords:
Echocardiography;
Common arterial trunk;
Ventricular septal defect;
Pulmonary artery branches;
Perinatal diagnosis;
Chromosomal abnormalities
- From:
Chinese Journal of Ultrasonography
2025;34(6):504-510
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the echocardiographic and genetic characteristics of fetuses with common arterial trunk（CAT）.Methods:A retrospective analysis was conducted on 77 480 fetal echocardiograms examined at the Maternal-Fetal Medicine center in Fetal Heart Disease of Beijing Anzhen Hospital from November 2010 to November 2024.Among them，106 fetuses were initially diagnosed with CAT，and 95 cases were ultimately confirmed（0.1%，95/77 480）. The echocardiographic and genetic features of CAT fetuses were analyzed. According to the modified Van Praagh classification，CAT was divided into types A1-A4［with ventricular septal defect（VSD）］and B1-B4（without VSD）based on the origin of the pulmonary artery branches and the presence or absence of a VSD. Additionally，CAT was categorized into isolated and complex types based on the presence of associated intracardiac or extracardiac anomalies.Results:① Among the 95 confirmed CAT fetuses，type A accounted for 90.5%（86/95），and type B accounted for 9.5%（9/95）. All 9 type B CAT fetuses exhibited no overriding of the arterial trunk ， with 8 cases showing left ventricular hypoplasia accompanied by mitral atresia or absence.② Of the 95 CAT fetuses，14 were isolated（14.7%，14/95） ， and 81 were complex（85.3%，81/95）.The main associated intracardiac anomalies included：single ventricle（22 cases），complete atrioventricular septal defect（12 cases），anomalous pulmonary venous drainage（10 cases），right aortic arch with mirror-image branching（16 cases），and persistent left superior vena cava（14 cases）. ③ Genetic testing was performed in 31 fetuses，with 18 showing positive results，primarily 22q11.21 deletion syndrome（29.0%，9/31）. Conclusions:Apart from VSD，the most common intracardiac anomaly associated with CAT fetuses is single ventricle. Type B CAT without trunk overriding is often associated with left ventricular hypoplasia and mitral atresia or absence. The most frequent genetic abnormality in CAT fetuses is 22q11.21 deletion syndrome. Prenatal echocardiography should clarify the CAT subtype and associated anomalies，and genetic testing is strongly recommended for perinatal counseling and prognostic evaluation.
