Department of Ultrasonography, Second Xiangya Hospital of Central South University, 139 Renmin Road (M), 410011, Changsha, Hunan, China.
Department of Obstetrics, Xiangya Hospital of Central South University, 87 Xiangya Road, 410008, Changsha, Hunan, China.
BMC Pregnancy Childbirth. 2020 Oct 12;20(1):614. doi: 10.1186/s12884-020-03300-4.
Fetal double aortic arch (DAA) malformation is a rare congenital heart disease with few reported cases in the literature. We aimed to investigate the characteristics of prenatal ultrasound and postnatal computed tomography angiography (CTA) of DAA and to describe the associated anomalies and clinical outcomes to improve prenatal diagnosis and assist in perinatal management.
The obstetric ultrasound imaging databases of seven tertiary referral centers were reviewed retrospectively to identify fetuses with a prenatal diagnosis of DAA between January 2013 and December 2018. Ultrasonographic findings, associated anomalies, genetic abnormalities, postnatal CTA images, and long-term postnatal outcomes were evaluated.
A total of 36 cases out of 40 prenatally diagnosed DAA fetuses were confirmed by postnatal diagnosis (fetal autopsy, CTA, and surgery). In this cohort of 36 confirmed cases, 24 (67%) were isolated anomalies, while 12 (33%) were associated with intracardiac or extracardiac anomalies, and 2 (6%) had a 22q11.2 chromosome deletion. Among nine cases of pregnancy termination with a fetal autopsy, 7 had other abnormalities. Among the remaining 27 live births, 16 (59%) were asymptomatic and 11 (41%) received surgical treatment due to tracheal or esophageal compression symptoms, all with satisfactory outcomes. Prenatal echocardiography showed that DAA was mainly characterized by a bifurcation of the ascending aorta into the right and left aortic arch and the formation of a complete O-shaped vascular ring around the trachea on the three-vessel tracheal view. A variant in the aortic arch branching pattern was found for the first time. The airway obstruction, branching pattern, and atretic arch of DAA were clearly shown by postnatal CTA.
Fetal DAA has unique features on prenatal echocardiography and postnatal CTA, and systematic prenatal examination and timely postnatal CTA evaluation are required. A certain proportion of intracardiac and extracardiac abnormalities are associated with DAA, but the probability of chromosome abnormalities is low, especially for isolated DAA.The clinical outcomes of isolated DAA are favorable, even if surgery is performed due to symptoms. Determining whether other malformations or chromosomal anomalies exist is crucial for prognosis evaluation and prenatal counseling.
胎儿双主动脉弓（DAA）畸形是一种罕见的先天性心脏病，文献报道病例较少。我们旨在研究 DAA 的产前超声和产后 CT 血管造影（CTA）特征，并描述相关异常和临床结局，以提高产前诊断水平并协助围生期管理。
回顾性分析 2013 年 1 月至 2018 年 12 月期间，7 家三级转诊中心的产科超声影像数据库，以确定产前诊断为 DAA 的胎儿。评估超声表现、相关异常、遗传异常、产后 CTA 图像和长期产后结局。
36 例产前诊断为 DAA 的胎儿经产后诊断（胎儿尸检、CTA 和手术）证实。在这 36 例确诊病例中，24 例（67%）为孤立性异常，12 例（33%）合并心内或心外异常，2 例（6%）存在 22q11.2 染色体缺失。9 例因胎儿尸检而终止妊娠的病例中，7 例存在其他异常。其余 27 例活产儿中，16 例（59%）无症状，11 例（41%）因气管或食管受压症状接受手术治疗，均取得满意效果。产前超声心动图显示，DAA 主要表现为升主动脉分为右、左主动脉弓，并在三血管气管切面形成完整的 O 形血管环环绕气管。首次发现主动脉弓分支模式的变异。产后 CTA 清晰显示 DAA 的气道阻塞、分支模式和闭锁弓。
胎儿 DAA 在产前超声心动图和产后 CTA 上具有独特特征，需要系统的产前检查和及时的产后 CTA 评估。DAA 与一定比例的心内和心外异常相关，但染色体异常的概率较低，尤其是孤立性 DAA。孤立性 DAA 的临床结局良好，即使因症状而行手术治疗也是如此。确定是否存在其他畸形或染色体异常对于预后评估和产前咨询至关重要。
