目的:本研究旨在表征病理类型,诊断,染色体异常,胎儿右主动脉弓和双主动脉弓畸形的产后临床表现。
方法:在这项回顾性研究中,纳入2012年12月至2021年12月在我们的三级转诊中心进行常规二维超声心动图结合时空图像相关性的所有诊断为右主动脉弓或双主动脉弓异常的胎儿.
结果:总计,确定了234例主动脉弓异常的胎儿。41例失去了后续行动。本研究纳入了93例病例。88例右主动脉弓。双主动脉弓6例。右主动脉弓伴异常左锁骨下动脉的大多数病例(77/101,76.2%)为孤立性病变。而大多数具有镜像分支的患者(45/75,60%)与心内或心外异常相关。113例右主动脉弓胎儿产前筛查染色体异常,其中3例异常左锁骨下动脉(3/63,4.8%)和8例镜像分支(8/50,16%)染色体异常(p<0.05)。此外,3例有微缺失22q11.2,这些与心内畸形显著相关。
结论:除了孤立的左锁骨下动脉和孤立的左头臂干,大多数孤立的右主动脉弓病例没有临床症状。此外,孤立的右主动脉弓患者发生染色体异常的风险非常低.我们建议应告知孕妇进行侵入性产前染色体检测的风险和益处。
OBJECTIVE: This study aimed to characterize the pathological types, diagnosis, chromosomal abnormalities, and postnatal clinical manifestations of right and double aortic arch malformations in fetuses.
METHODS: In this retrospective study, all fetuses diagnosed with right or double aortic arch anomalies for whom conventional two-dimensional echocardiography combined with spatio-temporal image correlation was performed at our tertiary referral center between December 2012 and December 2021 were included.
RESULTS: In total, 234 fetuses with aortic arch abnormalities were identified. Forty-one cases lost to follow-up. One hundred ninety-three cases were included in this study. One hundred eighty-seven cases with right aortic arch. Six cases with double aortic arch. Most cases of right aortic arch with aberrant left subclavian artery (77/101, 76.2%) were isolated lesions, whereas most of those with mirror-image branching (45/75, 60%) were associated with intracardiac or extracardiac anomalies. Chromosomal abnormalities were screened prenatally in 113 fetuses with right aortic arch, among whom three with aberrant left subclavian artery (3/63, 4.8%) and eight with mirror-image branching (8/50, 16%) had chromosome anomalies (p < 0.05). Furthermore, three cases had microdeletion 22q11.2 and these were significantly associated with intracardiac malformations.
CONCLUSIONS: Most cases of isolated right aortic arch do not present with clinical symptoms except isolated left subclavian artery and isolated left brachiocephalic trunk. In addition, the risk of chromosomal abnormalities in patients with isolated right aortic arch is very low. We recommend that pregnant women should be informed of the risks and benefits of undergoing invasive prenatal chromosomal detection.