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。
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,