Abel J S, Berg C, Geipel A, Gembruch U, Herberg U, Breuer J, Brockmeier K, Gottschalk I
Division of Prenatal Medicine, Department of Obstetrics and Gynecology, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.
Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
Arch Gynecol Obstet. 2021 Aug 28. doi: 10.1007/s00404-021-06157-w.
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.
39 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 21 of 24 (87.5%) cases and of TAC subtype in 19 of 21 (90.5%) cases. Prenatal diagnosis of TAC was incorrect in three cases: one newborn had aortic atresia with ventricular septal defect postnatally, one had hypoplastic right ventricle with dextro Transposition of the Great Arteries with coartation of the aorta and a third newborn had Tetralogy of Fallot with abnormal origin of the left pulmonary artery arising from the ascending aorta postnatally. These three cases were excluded from further analysis. In 9 of 34 (26.5%) cases, TAC was an isolated finding. 13 (38.2%) 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 3 (8.8%) and in 20 (58.8%) cases, respectively. Predominantly, extra-cardiac anomalies occurred in association with chromosomal anomalies. Additionally, severe IUGR occurred in 6 (17.6%) cases. 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 11 (78.6%) infants, but 5 (46.2%) of them needed repeated re-interventions due to recurrent pulmonary artery or conduit stenosis. The other 3 (21.4%) survivors were significantly impaired due to non-cardiac problems.
TAC 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 short- and medium-term 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）胎儿的相关异常谱、宫内病程、产后结局及处理方法。方法：回顾性收集两个三级转诊中心8年间产前诊断的所有TAC病例。评估所有其他产前检查结果并与结局相关联。评估产前诊断的准确性。
产前诊断出39例TAC。首次诊断时的平均孕周为22周（范围13 - 38周）。2例失访。24例中有21例（87.5%）TAC产前诊断正确，21例中有19例（90.5%）TAC亚型产前诊断正确。3例TAC产前诊断错误：1例新生儿出生后为主动脉闭锁合并室间隔缺损，1例为右心室发育不良合并大动脉右转位及主动脉缩窄，第3例新生儿出生后为法洛四联症合并左肺动脉异常起源于升主动脉。这3例被排除在进一步分析之外。34例中有9例（26.5%）TAC为孤立性发现。13例（38.2%）胎儿有其他染色体异常。其中，22q11.2微缺失最常见，在我们的队列中患病率为17.6%。另外3例胎儿因存在心脏外异常高度怀疑非染色体遗传综合征，但无法提供分子诊断。主要心脏和心脏外异常分别发生在3例（8.8%）和20例（58.8%）中。主要是，心脏外异常与染色体异常相关。此外，6例（17.6%）发生严重胎儿生长受限。14例（41.2%）终止妊娠，1例（2.9%）宫内胎儿死亡，5例（14.7%）产后死亡，14例（41.2%）婴儿在最后一次随访时存活。意向性治疗生存率为70%。幸存者的平均随访时间为42个月（范围6 - 104个月）。11例（78.6%）婴儿术后健康状况良好，但其中5例（46.2%）因复发性肺动脉或管道狭窄需要再次干预。另外3例（21.4%）幸存者因非心脏问题有明显功能障碍。
TAC是一种罕见且复杂的心脏异常，产前可高精度诊断。TAC常与染色体和心脏外异常相关，因终止妊娠和围手术期死亡率导致高宫内和产后损失率。无严重心脏外异常时，术后短期和中期健康状况良好，与TAC亚型无关，但因复发性狭窄导致的再次干预患病率高。
