胎儿心脏锥干畸形产前诊断评价

目的评价胎儿心脏锥干畸形产前超声心动图诊断准确性。方法运用胎儿超声心动图进行先天性心脏病产前诊断，并与心脏病理诊断或新生儿心脏超声诊断进行比较分析。结果2063例胎儿进行心脏超声检查，产前发现胎儿心脏锥干畸形28例，诊断时平均孕周26．6周（16～40周），产前诊断包括大血管转位5例，法洛四联症5例，右室双出口6例，永存动脉干9例，室间隔缺损合并主动脉骑跨可能1例，2例检查发现大血管位置异常但胎儿超声心动图未予明确诊断。24例经胎儿心脏病理检查或新生儿心脏超声检查确诊，4例失访（包括1例TOF／TA？，2例“大血管发育异常”，1例TGA）。比较产前诊断与产后诊断，分析大血管位置关系诊断准确性为75．0％（18／24）。结论胎儿超声心动图可正确诊断胎儿心脏锥干畸形，需运用多种超声切面及彩色脉冲多普勒确定大血管位置关系。

Prenatal diagnosis of fetal conotruncal anomalies by echocardiography

Objective To evaluate the accuracy of prenatal diagnosis of fetal conotruncal anomalies with echocardiography. Methods Fetal echocardiography were conducted for all women in their antenatal visits from Jan 2003 to Dec 2004. The echocardiographic diagnosis was compared with cardiac pathology results. Results Among 2063 women who had fetal echocardiographiy performed, conotruncal anomaly was detected in 28 fetuses with the average gestation of 26. 6 (16-40) weeks when the diagnosis was made, including tetralogy of Fallot (n=5), double outlet right ventricle (n = 6) , transposition of the great arteries (n = 5) , truncus arteriosus (n = 9) and ventricular septal defect with suspected overriding aorta (n=1). Four of the 28 fetuses were lost during follow up and the accurate rate of prenatal assessment of the great artery relationship was 75. 0% (18/24). Two fetuses with prenatal diagnosis of truncus arteriosus were reported as having pulmonary atresia with ventricular septal defect at autopsy. An overriding aorta was suspected in the other case, but postnatal echocardiography was diagnosed as perimembranous subaortic defect. Two fetuses with prenatally suspected double outlet right ventricle were diagnosed as having transposition of the great arteries at autopsy. Only one false-negative diagnosis was made in this series (4. 2%). Conclusions Conotruncal anomalies can be correctly diagnosed by fetal echocardiography. A combination of different views is necessary to define the exact spatial relationship of the great arteries. Specific diagnosis remains a challenge in some cases.