目的 分析胎儿右位主动脉弓产前超声的相关异常、遗传物质改变及其预后。方法 回顾性分析2013～2016年在本院产前超声诊断的右位主动脉弓并采用Affymetrix CytoScan HD行染色体微阵列分析（chromosomal microarray analysis, CMA）病例。结果 研究期间产前超声共诊断右位主动脉弓病例92例，6例失访，26例未行染色体微阵列分析。最常合并的产前超声异常是法洛氏四联症。60例染色体核型已知病例中，1例46, X, Yqh+, der(13)t(8;13)(q22.3;q33.2)，1例47, XYY，余58例染色体核型正常。本研究中，临床意义未明拷贝数变异和致病性拷贝数变异在胎儿右位主动脉弓的检出率分别是5.2%和5.2%。所有的致病性拷贝数变异均是22q11.2微缺失。右位主动脉弓合并异常组和单纯性右位主动脉弓组其合并染色体异常、分娩孕周和出生后存活率差异均无统计学意义。1例合并左锁骨下动脉迷走因出现呼吸系统症状需行手术治疗。结论 胎儿右位主动脉弓合并22q11.2微缺失风险约是5%，产前超声检测发现右位主动脉弓，建议CMA检测排除染色体异常。
Objective To assess the associated prenatal findings, genetic anomalies by using chromosomal microarray analysis (CMA) and clinical outcomes of fetal right aortic arch (RAA). Methods This retrospective study reviewed 92 cases diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016. Results Six cases were lost to follow up and genetic data could not be obtained in 26 cases. Tetralogy of the Fallot was the most common associated anomaly. Among the 60 fetuses with known karyotype, one was 46, X, Yqh+, der(13)t(8;13)(q22.3;q33.2), one was 47, XYY and the remaining were normal. Our study showed that CMA could detect uncertain significant copy number variants (CNVs) in 5.2% of fetal RAA and pathogenic CNVs in 5.2%, all of which were microdeletion in chromosome 22q11.21. The incidence of genetic anomalies, gestational age at diagnosis, gestational age at delivery and postnatal death rate were not significantly different between RAA-no intracardiac anomalies (ICA) and RAA-ICA group. One infant with aberrant left subclavian artery was performed a surgery for respiratory symptom. Conclusions Prenatal right aortic arch is associated with 22q11.2 deletion syndrome in approximately 5% and, therefore, prenatal testing, preferably using CMA, should be offered in these cases.
