Fetal Heart Centre, Department of Obstetrics and Gynecology, Justus Liebig University, Giessen, Germany.
Fetal Diagn Ther. 2011;30(4):299-305. doi: 10.1159/000332982. Epub 2011 Nov 17.
Interrupted aortic arch (IAA) is a rare but serious anomaly. Prenatal diagnosis is challenging and published data are limited. The aim of the study was to review the data of fetuses and neonates diagnosed with IAA during a 16-year period at Children's Hospital Giessen.
Retrospective ascertainment of 8 fetuses and 20 neonates with a confirmed diagnosis of IAA from 1994 to 2010 by reviewing the hospital database of the cardiovascular program of the prenatal and pediatric cardiology clinics at the University Hospital Giessen.
Eighteen cases with IAA type B and 10 cases with IAA type A were found. After 2005, prenatal diagnosis was achieved in 8 cases and postnatal imaging confirmed IAA in all 8 neonates. Twenty-nine percent of individuals had a chromosomal anomaly, with microdeletion 22q11.2 being the most common abnormality (n = 6, 21%). In 46% (13/28) other complex cardiac anomalies were present. Mortality after surgery was 18%. Long-term morbidity and mortality was due to neurological impairment in the presence of microdeletion 22q11.2 and the need of surgical or catheter re-intervention.
Despite the difficulties and challenges in diagnosis, the prenatal detection rate of IAA is increasing. Associated complex cardiac and chromosomal abnormalities influence the outcome of patients with IAA and are important issues of parental counseling.
主动脉弓中断（IAA）是一种罕见但严重的畸形。产前诊断具有挑战性，且已发表的数据有限。本研究的目的是回顾在吉森儿童医院的 16 年间，经诊断患有 IAA 的胎儿和新生儿的数据。
通过回顾吉森大学医院产前和儿科心脏病诊所心血管项目的医院数据库，对 1994 年至 2010 年间确诊为 IAA 的 8 例胎儿和 20 例新生儿进行回顾性确定。
发现 18 例 B 型 IAA 和 10 例 A 型 IAA。2005 年后，8 例实现了产前诊断，所有 8 例新生儿的产后影像学检查均证实了 IAA。29%的个体存在染色体异常，微缺失 22q11.2 是最常见的异常（n=6，21%）。46%（13/28）的个体存在其他复杂的心脏畸形。手术后的死亡率为 18%。尽管存在神经发育障碍和微缺失 22q11.2，但由于手术或导管再介入的需要，长期发病率和死亡率仍然较高。
尽管诊断存在困难和挑战，但 IAA 的产前检出率正在增加。相关的复杂心脏和染色体异常影响 IAA 患者的预后，是家长咨询的重要问题。
