Wittek Agnes, Plöger Ruben, Walter Adeline, Strizek Brigitte, Geipel Annegret, Gembruch Ulrich, Neubauer Ricarda, Recker Florian
Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Venusberg Campus 1, 53127 Bonn, Germany.
J Clin Med. 2024 Oct 15;13(20):6143. doi: 10.3390/jcm13206143.
: Truncus arteriosus communis (TAC) is a rare congenital heart defect characterized by a single arterial trunk that supplies systemic, pulmonary, and coronary circulations. This defect, constituting approximately 1-4% of congenital heart diseases, poses significant challenges in prenatal diagnosis, management, and postnatal outcomes. : A retrospective analysis was conducted at the local tertiary referral center on cases of TAC diagnosed prenatally between 2019 and 2024. Additionally, a systematic literature review was performed to evaluate the accuracy of prenatal diagnostics and the presence of associated anomalies in fetuses with TAC and compare already published data with the local results. The review included studies that especially described the use of fetal echocardiography, the course and outcome of affected pregnancies, and subsequent management strategies. : The analysis of local prenatal diagnoses revealed 14 cases. Of the 11 neonates who survived to birth, the TAC diagnosis was confirmed in 7 instances. With all seven neonates undergoing surgery, the intention-to-treat survival rate was 86%, and the overall survival rate was 55%. By reviewing published case series, a total of 823 TAC cases were included in the analysis, of which 576 were diagnosed prenatally and 247 postnatally. The presence of associated cardiac and extracardiac manifestations as well as genetic anomalies was common, with a 22q11 microdeletion identified in 27% of tested cases. : Advances in prenatal imaging and early diagnosis have enhanced the management of TAC, allowing for the detailed planning of delivery and immediate postnatal care in specialized centers. The frequent association with genetic syndromes underscores the importance of genetic counseling in managing TAC. An early surgical intervention remains crucial for improving long-term outcomes, although the condition is still associated with significant risks. Long-term follow-up studies are essential to monitor potential complications and guide future management strategies. Overall, a coordinated multidisciplinary approach from prenatal diagnosis to postnatal care is essential for improving outcomes for individuals with TAC.
共同动脉干（TAC）是一种罕见的先天性心脏缺陷，其特征是单一动脉干供应体循环、肺循环和冠状动脉循环。这种缺陷约占先天性心脏病的1 - 4%，在产前诊断、管理及产后预后方面带来了重大挑战。
在当地三级转诊中心对2019年至2024年间产前诊断为TAC的病例进行了回顾性分析。此外，进行了系统的文献综述，以评估产前诊断的准确性以及TAC胎儿相关异常的存在情况，并将已发表的数据与当地结果进行比较。该综述纳入了特别描述胎儿超声心动图的使用、受影响妊娠的过程和结局以及后续管理策略的研究。
对当地产前诊断的分析发现了14例病例。在11例存活至出生的新生儿中，7例确诊为TAC。所有7例新生儿均接受了手术，意向性治疗生存率为86%，总体生存率为55%。通过回顾已发表的病例系列，分析共纳入823例TAC病例，其中576例为产前诊断，247例为产后诊断。心脏和心脏外表现以及遗传异常的存在很常见，在27%的检测病例中发现了22q11微缺失。
产前成像和早期诊断的进展改善了TAC的管理，使得能够在专业中心对分娩和产后即刻护理进行详细规划。与遗传综合征的频繁关联凸显了遗传咨询在TAC管理中的重要性。尽管该疾病仍伴有重大风险，但早期手术干预对于改善长期预后仍然至关重要。长期随访研究对于监测潜在并发症和指导未来管理策略至关重要。总体而言，从产前诊断到产后护理的协调多学科方法对于改善TAC患者的预后至关重要。
