Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome.
Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome.
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DOI：
10.5468/ogs.2014.57.1.11
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发表时间：
2014-01
影响因子：
--
通讯作者：
Kim A
中科院分区：
文献类型：
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作者：
Lee MY;Won HS;Baek JW;Cho JH;Shim JY;Lee PR;Kim A
分析患有 22q11.2 缺失综合征的韩国人群中产前诊断的先天性心脏病谱，并为产前筛查 22q11.2 缺失提供指南。这项回顾性研究评估了 2002 年 9 月至 2012 年 12 月期间在韩国首尔峨山医疗中心对 1,137 个因疑似先天性心脏病而进行了 22q11.2 缺失产前基因检测的胎儿。 53例确诊22q11.2缺失的胎儿中，主要心血管疾病为法洛四联症（n = 24， 45%）、主动脉弓中断（n = 10， 19%）、室间隔缺损（n = 5， 9%）、右心室双出口（n = 4， 8%）和主动脉缩窄（n = 4， 8%）。其他心脏缺陷很少与 22q11.2 缺失相关。一名胎儿患有持续性动脉干，一名胎儿患有主动脉瓣狭窄，一名胎儿患有右心发育不全综合征。两个胎儿具有正常的心内解剖结构，具有孤立的右主动脉弓，一个胎儿具有孤立的双侧上腔静脉。胎儿时期就出现了多种先天性心脏病。除大动脉转位外，圆锥干心脏缺陷与 22q11.2 缺失密切相关。当胎儿超声心动图诊断出此类异常时，应进行 22q11.2 缺失的基因检测。即使检测到频率较低的与缺失相关的心脏缺陷，也应评估其他相关异常，例如胸腺发育不全或发育不全，以排除 22q11.2 缺失。
To analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22q11.2 deletion syndrome, and to provide guidelines for screening 22q11.2 deletion prenatally. This retrospective study evaluated 1,137 consecutive fetuses that had prenatal genetic testing for 22q11.2 deletion because of suspected congenital heart disease between September 2002 and December 2012, at Asan Medical Center, Seoul, Korea. Main cardiovascular diseases in the 53 fetuses with confirmed 22q11.2 deletions were tetralogy of Fallot (n = 24, 45%), interrupted aortic arch (n = 10, 19%), ventricular septal defect (n = 5, 9%), double outlet right ventricle (n = 4, 8%), and coarctation of the aorta (n = 4, 8%). Other cardiac defects were rarely associated with 22q11.2 deletion. One fetus had persistent truncus arteriosus, one had aortic stenosis, and one had hypoplastic right heart syndrome. Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava. A variety of congenital heart diseases were seen during the prenatal period. Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion. When such anomalies are diagnosed by fetal echocardiography, genetic testing for 22q11.2 deletion should be offered. Even if less frequent deletion-related cardiac defects are detected, other related anomalies, such as thymic hypoplasia or aplasia, should be evaluated to rule out a 22q11.2 deletion.