产前诊断的心脏外异位综合征中的心脏外畸形。

Extracardiac anomalies in prenatally diagnosed heterotaxy syndrome.

机构信息

Division of Prenatal Medicine and Gynecologic Sonography, Department of Gynecology and Obstetrics, University of Köln, Köln, Germany.

praenatal.de, Prenatal Medicine and Genetics, Köln, Germany.

出版信息

Ultrasound Obstet Gynecol. 2016 Apr;47(4):443-9. doi: 10.1002/uog.14871. Epub 2016 Mar 4.

DOI:10.1002/uog.14871

PMID:25847110

Abstract

OBJECTIVE

To assess the incidence and impact of extracardiac anomalies on the prognosis of fetuses with heterotaxy syndrome.

METHODS

All fetuses diagnosed with heterotaxy syndrome by three experienced examiners over a period of 14 years (1999-2013) were reviewed retrospectively.

RESULTS

In total, 165 fetuses with heterotaxy syndrome were diagnosed in the study period. One hundred and fifty (90.9%) had cardiac defects; extracardiac anomalies that did not involve the spleen were present in 26/165 (15.8%) cases. Of the total study cohort, termination of pregnancy was performed in 49 (29.7%) cases, intrauterine death occurred in 11 (6.7%), postnatal death occurred in 38 (23.0%) and 67 (40.6%) were alive at the latest follow-up, resulting in a total perinatal and pediatric mortality of 59.4%. Among the 105 liveborn neonates, 15 (14.3%) had extracardiac anomalies with significant impact on the postnatal course: one neonate died following repair of an encephalocele, six had successful treatment for various types of intestinal malrotation and/or atresia and one underwent hiatal hernia repair; the remaining seven had biliary atresia, of which five died and the two survivors are awaiting liver transplantation. The status of the spleen was assessed in 93/105 liveborn children and was found to be abnormal in 84/93 (90.3%). There were three cases of lethal sepsis, all associated with asplenia. Of the 38 postnatal deaths, 29 (76.3%) had a cardiac cause, seven (18.4%) had an extracardiac cause and in two (5.2%) the reason was uncertain.

CONCLUSIONS

Although the leading causes of death in fetuses and children with heterotaxy syndrome are cardiac, a small subset of fetuses have extracardiac anomalies with significant impact on outcome. These anomalies often escape prenatal detection, and therefore neonates at risk should be monitored for bowel obstruction, biliary atresia and immune dysfunction in order to allow timely intervention through a multidisciplinary approach. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

摘要

目的

评估心脏异位综合征胎儿心脏外畸形的发生率和对预后的影响。

方法

回顾性分析 14 年间（1999 年至 2013 年）由 3 位经验丰富的检查医师诊断的所有心脏异位综合征胎儿。

结果

研究期间共诊断出 165 例心脏异位综合征胎儿。150 例（90.9%）有心脏缺陷；165 例中有 26 例（15.8%）心脏外畸形不涉及脾脏。在整个研究队列中，49 例（29.7%）终止妊娠，11 例（6.7%）宫内死亡，38 例（23.0%）新生儿死亡，67 例（40.6%）在最近的随访中存活，围产期和儿科总死亡率为 59.4%。在 105 例存活新生儿中，15 例（14.3%）有心脏外畸形，对新生儿期有显著影响：1 例新生儿在修复脑膨出后死亡，6 例成功治疗各种类型的肠旋转不良和/或闭锁，1 例行膈疝修补术；其余 7 例患有胆道闭锁，其中 5 例死亡，2 例幸存者正在等待肝移植。在 93 例存活儿童中评估了脾脏的情况，发现 84/93（90.3%）异常。有 3 例致命性败血症，均与无脾有关。38 例新生儿死亡中，29 例（76.3%）为心脏原因，7 例（18.4%）为心脏外原因，2 例（5.2%）原因不明。