VACTERL联合征的产前超声诊断分析

目的：探讨VACTERL联合征胎儿产前超声声像图特征及妊娠结局。方法对2003年1月至2013年9月深圳市妇幼保健院产前超声诊断为VACTERL联合征的55例胎儿超声声像图特征及产后随访结果进行总结分析。结果55例胎儿6种VACTERL联合征畸形产前超声检出率分别为：脊柱异常45.5%（25/55）、肛门闭锁30.9%（17/55）、心脏畸形81.8%（45/55）、气管食管瘘和（或）食管闭锁32.7%（18/55）、肾脏畸形60.0%（33/55）、肢体畸形83.6%（46/55）。55例胎儿均伴3种及3种以上VACTERL联合征畸形，产前超声表现及畸形特征：（1）55例胎儿中合并3种联合征畸形39例（70.9%，39/55），其中以肢体畸形（33/39）、心脏畸形（31/39）和肾脏畸形居多（21/39）。（2）55例胎儿中合并4种联合征畸形13例（23.6%，13/55），其中以心脏畸形（11/13）、肢体畸形（10/13）、肾脏畸形（9/13）和气管食管畸形居多（8/13）。（3）55例胎儿中合并5种联合征畸形3例（5.5%，3/55），均合并肛门闭锁、心脏、肾脏和肢体畸形（3/3）；其中2例合并脊柱异常（2/3）。（4）55例胎儿中未检出合并6种畸形的胎儿（0/55）。（5）55例VACTERL联合征胎儿中合并其他畸形29例（52.7%，29/55），以单脐动脉居多（38.2%，21/55）。55例胎儿超声检查后均引产，引产胎儿大体标本外观检查（55例）及胎儿标本解剖（9例）所见与产前超声检查结果均符合。结论 VACTERL联合征胎儿产前超声有典型声像图特征，胎儿均伴多发畸形，以肢体畸形、心脏畸形和肾脏畸形多见。超声检查时由畸形发生率高的部位向畸形发生率低的部位顺序扫查，有助于提高超声诊断符合率。产前超声诊断VACTERL联合征有助于指导产科处理。

Prenatal ultrasound diagnosis of VACTERL association

Objective To study the ultrasonic features and outcomes of VACTERL association fetuses. Methods From Jan 2003 to Sep 2013 in Shenzhen Maternity ＆ Child Healthcare Hospital there were 55 fetuses diagnosed as VACTERL association, the prenatal ulWasonographic characteristics and outcomes were summarized. Results Ultmsonography showed that the incidence of 6 VACTERL association anomalies were： vertebral defects were 45.5% （25/55）, anal atresia were 30.9% （46/55）, cardiac malformations were 81.8% （45/55）, tracheoesophageal fistula/esophageal atresia were 32.7% （18/55）, renal anomalies were 60.0% （33/55） and limb anomalies were 83.6% （17/55）. All the 55 fetuses had 3 or more VACTERL association malformations and the characteristic ultrasonic features were as follows： （l） There were 39 cases （70.9%, 39/55） co-occur with three VACTERL malformations, the more common malformations were limb anomalies （33/39）, cardiac malformations （31/39） and renal anomalies （21/39）. （2） There were 13 cases （23.6%, 13/55） co-occur with four VACTERL malformations, the more common malformations were cardiac malformations （11/13）, limb anomalies（10/13）, renal anomalies （9/13） and tracheoesophageal fistula/esophageal （8/13）. （3） There were 3 cases （5.5%, 3/55） co-occur with five VACTERL malformations, they were all with anal atresia, cardiac malformations, renal anomalies and limb anomalies （3/3）, and two were co-occur with vertebral defects （2/3）. （4） No fetus co-occur with six VACTERL malformations. There were 29 cases （52.7%, 29/55） co-occur with other malformations, of which 21 eases （38.2%, 21/55） with single umbilical artery. All the 55 cases underwent labor induction. The results of poslmortem appearance of 55 cases and autopsies of 9 cases were all consistent with prenatal ultrasound scan. Conclusions Fetuses with VACTERL association had characteristic prenatal ultrasound imaging, multiple malformations can be found and limb anomalies,