产前超声诊断胎儿右位主动脉弓合并迷走左锁骨下动脉及染色体核型分析

Prenatal ultrasonographic diagnosis and chromosome karyotype for right aortic arch with aberrant left subclavian artery

目的总结右位主动脉弓合并迷走左锁骨下动脉(RAA-ALSA)的产前超声特征及染色体核型结果。方法回顾性分析我院产前超声诊断为RAA-ALSA的28例胎儿资料,包括产前超声、产后新生儿心脏彩超或尸解结果、染色体核型分析结果以及临床随访情况。结果 28例产前诊断的RAA-ALSA均经过出生后新生儿心脏彩超或引产后尸解证实,其中仅1例为18-三体综合征,其余27例染色体核型正常。该组病例中,21例为孤立性RAA-ALSA,均为左位动脉导管、活产,随访至今未出现呼吸窘迫、吞咽困难等气管食管压迫症状。其余7例为RAA-ALSA伴左位动脉导管合并其他心内外畸形,其中4例合并室间隔缺损、主动脉骑跨、肺动脉狭窄;1例合并室间隔缺损、主动脉骑跨及胎儿左侧多囊性发育不良肾;1例合并完全性大动脉转位;1例合并过渡型心内膜垫缺损、永存左上腔静脉及胎儿唇腭裂畸形;此7例孕妇及家属选择引产并同意尸解。结论 RAA-ALSA多为孤立性,染色体核型分析多无异常,预后较好;RAA-ALSA有典型超声图像特征,产前超声能够对此以及合并的其他畸形作出诊断,从而为产前咨询及预后的个体化评估提供依据。

Objective To explore the prenatal ultrasonographic features and chromosome karyotype for right aortic arch with aberrant left subclavian artery(RAA-ALSA).Methods Prenatal echocardiography,postnatal echocardiography or autopsy pathological data,chromosome karyotype results and outcome of fetal RAA-ALSA in 28 cases were analyzed retrospectively.Results The 28 cases were confirmed by postpartum echocardiography or autopsy pathology,including 27 cases with normal chromosome karyotype and one case with Trisomy 18.Twenty-one cases which were isolated type(1 eft-sided ductus arteriosus)were live birth,and had no respiratory tract and esophageal compression symptoms such as respiratory distress and dysphagia so far.The rest seven cases were complicated type,including intracardiac and extracardiac anomaly as follows:1)Four cases with ventricular septal defect,aortic riding and pulmonary artery stenosis.2)One case with ventricular septal defect,aortic riding and fetal left polycystic dysplastic kidney.3)One case with transposition of great arteries.4)One case with transitional endocardial cupshion defect,persistent left superior vena cava and fetal cleft lip and palate.All the seven cases were terminated.Conclusion RAA-ALSA is mostly isolated.Most of them have no abnormalities in chromosome karyotype analysis and have good prognosis.RAA-ALSA has characteristic ultrasound findings.Associated intracardiac and extracardiac anomaly can be accurately diagnosed by prenatal ultrasound,which can provide scientific basis for prenatal counseling and fetal prognosis assessment.