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摘要: 先天性心脏病(congenital heart disease, CHD)主要指心脏及大血管的局部解剖结构异常, 具有高致残性和高致死性, 是严重威胁人类健康的全球性心血管疾病。超声检查是目前临床上筛查、诊断CHD重要的无创诊断技术, 可在妊娠18~22周行胎儿心脏超声筛查, 并在合适孕周进行随诊。目前常用的超声检查方法包括二维灰阶显像、彩色多普勒血流显像及频谱多普勒超声心动图。时间-空间相关成像技术是在二维超声基础上建立的新技术, 具有多种成像模式, 可实现对心脏解剖结构显示和CHD诊断。规范的胎儿心脏超声检查及专业的超声结果解读可提高CHD的产前诊断质量, 给予孕妇合理的产前咨询和产科管理, 降低致死性CHD胎儿的出生, 提高CHD患儿的生命质量, 具有重要的临床价值和深远的社会意义。
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关键词:
- 先天性心脏病 /
- 胎儿心脏超声 /
- 预后 /
- 时间-空间相关成像技术
Abstract: Congenital heart diseases (CHD) are a kind of defects of the heart and great vessels, which have high disabilities and high mortalities and are a serious threat to human health. Fetal echocardiography is a crucial noninvasive technique to screen and diagnose CHD. Fetal echocardiography can be started at the 18-22 gestational week, and be periodically reviewed during the gestation. Now fetal echocardiography examination includes two-dimensional, color Doppler and spectral Doppler imaging. Spatio-temporal image correlation (STIC) is an advanced technique based on two-dimensional echocardiography and has multiple imaging models. STIC technique shows cardiovascular spatial relations and morphologies for the diagnosis of CHD. Standardized fetal echocardiography and professional explanation are very important and helpful to provide optimal consultation and clinical management, to avoid the loss of operative opportunity due to delayed diagnosis, to decrease the birth of infants with fatal CHD, which has clinical value and social meaning.作者贡献: 孟红负责文章撰写及修订; 王剑鹏负责文章审校。利益冲突: 无 -
表 1 胎儿CHD超声检查需关注和评估的重点
CHD种类 关注和评估的重点 全肺静脉异位引流 回流入左心房的肺静脉数目; 左心房与降主动脉之间距离有无增宽; 三血管气管切面肺动脉左侧有无异常血管; 有无异常血管汇入冠状静脉窦、上腔静脉、肝静脉或门静脉; 肺静脉干的异常回流部位有无血流汇聚(即梗阻); 尽可能评估肺静脉有无狭窄 ASD/VSD 房间隔下部、室间隔上部有无回声中断; 如存在VSD, 其缺损大小; 房室瓣膜是否仍具有两组房室瓣环或形成完全共同的房室瓣膜, 尽可能鉴别ASD/VSD分型(完全型、过渡型、部分型); 共同房室瓣前共瓣腱索附着位置(室缺残端、右心室), 房室瓣膜发育情况及反流程度 肺动脉瓣狭窄/ 法洛四联症/ 肺动脉闭锁/ 肺动脉狭窄 室间隔连续性, 有无合并VSD, 如合并VSD, 其缺损大小, 与主动脉的关系, 主动脉骑跨率; 肺动脉瓣叶增厚情况, 狭窄程度, 甚至闭锁, 有无合并反流及其程度; 肺动脉瓣环发育情况(瓣环直径及Z值); 肺动脉发育情况, 主肺动脉及左右肺动脉内径及Z值; 右心室发育情况, 比较右心室与左心室各径线; 三尖瓣发育情况, 瓣环直径及Z值, 瓣叶情况, 有无增厚, 三尖瓣反流程度; 警惕威廉斯氏综合征 主动脉缩窄 室间隔连续性, 有无合并VSD; 如合并VSD, 其缺损大小, 与主动脉的关系; 主动脉根部发育情况, 主动脉瓣环直径及Z值, 升主动脉内径及Z值; 主动脉横弓部内径及Z值; 降主动脉峡部内径及Z值; 降主动脉走形, 有无迂曲, 分支动脉分布间距; 峡部血流有无反向或舒张期延迟; 需重点排除有无导致左心室流出道容量减少的因素(如卵圆孔开放受限、VSD、左上腔静脉/主动脉瓣畸形、左心发育不良、右心室双出口等) 主动脉弓离断 需特别关注主动脉弓离断的部位; 鉴别主动脉弓离断的类型(A型: 位于左锁骨下动脉远端; B型: 左颈总动脉与左锁骨下动脉之间; C型: 无名动脉与左颈总动脉之间); 其他观察重点同主动脉缩窄; B型弓离断需警惕特纳综合征 完全型大动脉转位 室间隔的连续性, 有无合并VSD; 如合并VSD, 其缺损大小; 主动脉与肺动脉的空间位置及关系, 有无正常的螺旋关系, 或异常平行排列; 心室与动脉的连接关系; 主动脉瓣及肺动脉瓣瓣叶情况, 有无明显狭窄或反流, 瓣下有无异常结构, 瓣环发育情况(瓣环直径及Z值); 肺动脉发育情况, 主肺动脉及左右肺动脉内径及Z值 右心室双出口 室间隔的连续性, 有无合并VSD; 如合并VSD, 缺损大小; 主动脉与肺动脉的空间位置及关系; 心室与动脉的连接关系, 缺损与动脉的关系, VSD是否位于动脉下或远离动脉, 修补VSD能否重建左心室与主动脉的连接, 或通过建立左心室肺动脉内隧道及动脉调转手术; 其他观察重点同完全性大动脉 CHD: 先天性心脏病; ASD: 房间隔缺损; VSD: 室间隔缺损 表 2 我国CHD患儿的预后情况[11]
CHD种类 预后情况定义 备注 小的VSD(特别是膜周部或肌部)、小的ASD、轻度肺动脉狭窄、轻度弓缩窄; 胎儿期特有的孕期异常, 包括动脉导管提前收缩、卵圆孔开放受限或早闭 出生时或生后数日无血流动力学不稳定的危险因素 建议胎儿出生后定期复查随诊 绝大多数CHD, 包括但不限于ASD/VSD、动脉导管未闭、心内膜垫缺损、主动脉瓣下隔膜、功能改变不明显的主动脉瓣二瓣化畸形、较轻的三尖瓣下移畸形、肺动脉狭窄、法洛四联症(肺动脉及瓣环发育较好)、冠状动脉瘘及异常起源、主动脉缩窄/离断, 完全/部分型肺静脉异位引流、完全型大动脉转位、多数右心室双出口等 出生后需介入或外科治疗, 一般单次手术可取得根治效果, 对患儿生活质量和预期寿命无明显影响 需同时考虑合并遗传性疾病及心外畸形对生活质量和预期寿命的影响 瓣膜发育较差的完全型心内膜垫缺损、较重的三尖瓣下移畸形、肺动脉及瓣环发育较差的法洛四联症、肺动脉闭锁、肺动脉瓣缺如、二尖瓣发育异常(瓣上隔膜除外)、主动脉瓣病变、共同动脉干、合并瓣膜病变的完全型大动脉转位及右心室双出口、矫正型大动脉转位等 出生后需介入或外科治疗, 可能需多次手术获得根治效果 部分复杂畸形如大动脉转位、右心室双出口及矫正型大动脉转位等, 往往合并其他畸形, 其治疗效果一般由合并的畸形决定 合并一侧心室发育不良, 单心室、严重的三尖瓣下移畸形或缺如、部分4型肺动脉闭锁、一侧房室瓣发育不良或闭锁、主动脉瓣环发育不良、室间隔发育不良、部分难以建立内隧道连接的右心室双出口 不能手术根治, 只能做功能矫正手术, 影响预期寿命和生活质量 功能矫正手术包括右心旁路术、体肺分流术、肺动脉环缩术等, 通过改善紫绀、减少心脏负荷、防止肺血管病变加重等, 改善患者生活质量和预期寿命 左心发育不良(房间隔完整型)、合并左右肺动脉未发育或严重的肺静脉狭窄、由心脏结构性病变或心肌病变引发的心室功能减低 预后不良的CHD(手术难度极大、需心脏移植或不能手术) CHD、VSD、ASD: 同表 1 -
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