胎儿右位主动脉弓与染色体异常的相关性分析

Correlation between fetal right aortic arch and chromosome abnormality

目的：对系统超声检出胎儿右位主动脉弓与染色体异常的相关性进行分析。方法采集2009年1月至2014年12月在我院进行系统超声产前筛查19例右位主动脉弓胎儿,所有入选右位主动脉弓胎儿均进行羊水穿刺进行染色体核型分析,评价系统超声检测出的胎儿右位主动脉弓与染色体异常之间的相关性。结果15例右位主动脉弓超声像图表现气管和食管被气管左侧的动脉导管和气管后方的迷走左锁骨下动脉围成一“U”字形血管结构；1例胎儿有双主动脉弓超声主要表现为气管和食管被左右两侧的主动脉弓环绕成一个“O”字形包绕；3例右位主动脉弓胎儿另有左位动脉导管及头臂动脉影像分支,超声图主要表现为动脉导管在三血管-气管切面上并未有显示出来,气管的前方是动脉导管,未形成血管环；19例右位主动脉弓胎儿均进行染色体核型分析,3例伴室间隔缺损、单心房、三尖瓣闭锁、肺动脉狭窄,核型为18-三体；4例伴室间隔缺损、完全性房室通道、单心房、右室双出口、肺动脉狭窄近闭锁,核型为18-三体；3例伴单心室、单心房,核型为21-三体；1例法洛四联症和1例右位心、主动脉狭窄,伴有22q11.2。结论在产前胎儿超声筛查中要重视三血管-气管切面上的超声图像,有助于提高右位主动脉弓的检出率,胎儿右位主动脉弓与18-三体、21-三体等染色体病有明显相关性,若发现胎儿右位主动脉弓,应进行染色体核型进一步分析,排除染色体病变,从而达到优生优育的目的。

Objective To analyze the correlation between fetal right aortic arch and chromosome ab-normality by ultrasound.Methods From January Jan 2009 to Dec 2014,nineteen cases with fetal right aortic arch were enrolled.They were all determined by chromosome karyotype analysis.The correlation of fetal right aortic arch and chromosome abnormalities detected by ultrasound were evaluated.Results Left lock,a “U”shaped vascular structure,were found in 15 cases.One case of fetal aortic arch was surrounded by a “O”shaped package.Three cases of right aortic arch showed fetal left artery catheter and brachiocephalic artery ima-ging branch.Echocardiography mainly for arterial catheter in three vessel trachea view did not show up.Artery catheter,in front of the trachea,did not form the vascular ring.Nineteen cases of right aortic arch were exam-ined by fetal karyotype analysis.Three patients with trisomy 18-karyotype presented ventricular septal defect, single artium,three tricuspid atresia,pulmonary artery stenosis.Four cases with trisomy 18-karyotype presen-ted ventricular septal defect,complete atrioventricular canal,single artium,double outlet right ventricle,pul-monary artery stenosis in atresia.Three cases with trisomy 21 -karyotype showed single ventricle,single atri-um.One case was with tetralogy of Fallot and one case with dextrocardia,aortic stenosis,accompanied by 22q 1 1.2.Conclusion In prenatal ultrasound screening,we should pay attention to three vessels-trachea view on ultrasound image,which can improve the detection rate of right aortic arch.Fetal right aortic arch and triso-my 18-,trisomy 21 -,chromosomal diseases are substantially correlated.Further analysis of chromosome kary-otype is needed to exclude chromosomal lesions,so as to achieve the purpose of prenatal and postnatal care.