Division of Prenatal Medicine, Department of Obstetrics and Gynecology, University of Cologne, Kerpenerstr. 34, 50931, Cologne, Germany.
Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
Arch Gynecol Obstet. 2021 Dec;304(6):1455-1466. doi: 10.1007/s00404-021-06067-x. Epub 2021 May 24.
To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with truncus arteriosus communis (TAC) METHODS: All cases of TAC diagnosed prenatally over a period of 8 years were retrospectively collected in two tertiary referral centers. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed.
Thirty nine cases of TAC were diagnosed prenatally. Mean gestational age at first diagnosis was 22 weeks (range 13-38). Two cases were lost follow-up. Correct prenatal diagnosis of TAC was made in 87.5% and of TAC subtype in 90.5%. Prenatal diagnosis was incorrect in three cases: one newborn had aortic atresia with ventricular septal defect (VSD) postnatally, one had hypo-plastic right ventricle with dextro transposition of the great arteries (d-TGA) with coarctation of the aorta and a third newborn had tetralogy of fallot (TOF) with abnormal origin of the left pulmonary artery arising from the ascending aorta postnatally. These 3 cases were excluded from further analysis. In 26.5% of cases, TAC was an isolated finding. 38.2% of fetuses had additional chromosomal anomalies. Among them, microdeletion 22q11.2 was most common with a prevalence of 17.6% in our cohort. Another 3 fetuses were highly suspicious for non-chromosomal genetic syndromes due to their additional extra-cardiac anomalies, but molecular diagnosis could not be provided. Major cardiac and extra-cardiac anomalies occurred in between 8.8% and 58.8%, respectively. Predominantly, extra-cardiac anomalies occurred in association with chromosomal anomalies. Additionally, severe IUGR occurred in 17.6%. There were 14 terminations of pregnancy (41.2%), 1 (2.9%) intrauterine fetal death, 5 postnatal deaths (14.7%) and 14 (41.2%) infants were alive at last follow-up. Intention-to-treat survival rate was 70%. Mean follow-up among survivors was 42 months (range 6-104). Postoperative health status among survivors was excellent in 78.6%, but 46.2% needed repeated re-interventions due to recurrent pulmonary artery or conduit stenosis. The other 21.4% of survivors were significantly impaired due to non-cardiac problems.
Truncus arteriosus communis is a rare and complex cardiac anomaly that can be diagnosed prenatally with high precision. TAC is frequently associated with chromosomal and extra-cardiac anomalies, leading to a high intrauterine and postnatal loss rate due to terminations and perioperative mortality. Without severe extra-cardiac anomalies, postoperative health status is excellent, independent of the subtype of TAC, but the prevalence of repeated interventions due to recurrent stenosis is high.
评估共同动脉干（TAC）胎儿的相关畸形谱、宫内过程、围生期结局和处理方法。
在两个三级转诊中心，回顾性收集了 8 年来所有产前诊断为 TAC 的病例。评估所有其他产前发现，并与结局相关联。评估产前诊断的准确性。
39 例 TAC 病例在产前诊断。首次诊断的平均孕周为 22 周（范围 13-38）。有 2 例失访。TAC 的产前正确诊断率为 87.5%，TAC 亚型的产前正确诊断率为 90.5%。3 例产前诊断错误：1 例新生儿出生后诊断为主动脉瓣闭锁伴室间隔缺损（VSD），1 例新生儿诊断为右心室发育不良伴大动脉转位（d-TGA）伴主动脉缩窄，第 3 例新生儿出生后诊断为法洛四联症（TOF）伴左肺动脉异常起源于升主动脉。这 3 例病例被排除在进一步分析之外。26.5%的病例为孤立性 TAC。38.2%的胎儿存在额外的染色体异常。其中，22q11.2 微缺失最为常见，在本队列中的患病率为 17.6%。另外 3 例由于其额外的心脏外畸形，高度怀疑为非染色体遗传综合征，但无法提供分子诊断。主要的心脏和心脏外畸形分别发生在 8.8%和 58.8%之间。主要的心脏外畸形与染色体异常相关。此外，17.6%的胎儿存在严重宫内生长受限（IUGR）。共有 14 例（41.2%）终止妊娠，1 例（2.9%）胎儿宫内死亡，5 例（14.7%）新生儿死亡，14 例（41.2%）存活至最后随访。意向治疗生存率为 70%。存活者的平均随访时间为 42 个月（范围 6-104）。存活者的术后健康状况良好，占 78.6%，但 46.2%因肺动脉或管道再狭窄需要重复介入治疗。另外 21.4%的存活者因非心脏问题而明显受损。
共同动脉干是一种罕见且复杂的心脏畸形，可以通过产前检查以高精度进行诊断。TAC 常与染色体和心脏外畸形相关，由于终止妊娠和围生期死亡率高，导致宫内和围生期死亡率高。无严重心脏外畸形者，术后健康状况良好，与 TAC 亚型无关，但因再狭窄而反复介入治疗的发生率较高。
