Paladini D, Rustico M, Todros T, Palmieri S, Gaglioti P, Benettoni A, Russo M G, Chiappa E, D'Ottavio G
Department of Gynecology and Obstetrics, University Federico II of Naples, Italy.
Ultrasound Obstet Gynecol. 1996 Oct;8(4):241-6. doi: 10.1046/j.1469-0705.1996.08040241.x.
This retrospective multicenter study represents an analysis of the intrauterine determinants of the prognosis for conotruncal anomalies. Data regarding reason for referral, presence of chromosomal or extracardiac anomalies, pregnancy and surgical outcome were recorded in 67 cases of conotruncal anomalies from three Italian referral units. Chromosomal aberrations effected 11 of the 60 (18.3%) fetuses in which a karyotype was available. Extra-cardiac malformations were present in 25/67 cases (37.3%). No chromosomal anomalies were present in fetuses with complete or corrected transposition of the great arteries. However, tetralogy of Fallot and double-outlet right ventricle were associated with chromosomal anomalies in 22% and 38% of cases, respectively, and with extracardiac anomalies in 45% and 46% of cases, respectively. Only 20 of the 67 (31%) cardiac malformations were associated with an abnormal four-chamber view. There were 28 (41.7%) terminations of pregnancy, six (8.9%) intrauterine deaths and 16 (23.8%) neonatal deaths. Seventeen neonates (25.3%) are currently alive, and 15 of these have undergone reparative surgery. The prognosis of conotruncal anomalies is poorer when the conditions is diagnosed in utero. This is mainly due to the frequent association with chromosomal and/or extracardiac anomalies, often leading to intrauterine or early neonatal death.
这项回顾性多中心研究对圆锥干畸形预后的宫内决定因素进行了分析。来自意大利三个转诊单位的67例圆锥干畸形病例记录了转诊原因、染色体或心外畸形的存在情况、妊娠及手术结果。在可进行核型分析的60例胎儿中，11例（18.3%）存在染色体畸变。67例中有25例（37.3%）存在心外畸形。大动脉完全转位或矫正型大动脉转位的胎儿未出现染色体异常。然而，法洛四联症和右心室双出口分别有22%和38%的病例与染色体异常相关，分别有45%和46%的病例与心外畸形相关。67例心脏畸形中只有20例（31%）与四腔心切面异常有关。有28例（41.7%）妊娠终止，6例（8.9%）宫内死亡，16例（23.8%）新生儿死亡。17例新生儿（25.3%）目前存活，其中15例已接受修复手术。圆锥干畸形在宫内被诊断时预后较差。这主要是由于其常与染色体和/或心外畸形相关，常导致宫内或早期新生儿死亡。
