胎儿先天性心脏病产前超声筛查诊断模式的评价

Evaluation of the prenatal screening mode for fetal congenital heart diseases by ultrasound

目的评价胎儿先天性心脏病产前超声筛查诊断模式。方法收集2004年2月-2007年5月复旦大学附属妇产科医院产科在孕24周前行产前诊断的11410例孕妇，应用超声筛查其11544例胎儿的先天性心脏病发生情况。超声筛查切面包括四腔心切面、流出道切面（包括左室流出道＋三血管切面），计算不同切面诊断先天性心脏病的敏感性及特异性，并随访胎儿预后。结果（1）11544例胎儿中，筛查出先天性心脏病48例，漏诊6例，先天性心脏病发生率为0．47％（54／11544）。（2）四腔心切面发现胎儿先天性心脏病33例，主要为室间隔缺损18例（其中9例合并锥干异常）、房室瓣膜异常6例及左、右心不对称9例。四腔心切面诊断先天性心脏病的敏感性为61．11％（33／54），特异性为99．98％（11488／11490）。流出道切面诊断胎儿先天性心脏病15例，包括肺动脉闭锁1例，肺动脉瓣狭窄3例，大血管错位2例，肺动脉狭窄及大血管错位1例，法洛四联症6例，肺动脉狭窄2例。四腔心切面＋流出道切面诊断胎儿先天性心脏病的敏感性为88．89％（48／54），特异性99．98％（11488／11490）。（3）48例先天性心脏病胎儿中，有11例合并其他器官系统异常，另有11例行羊膜腔穿刺检查胎儿染色体，其中5例为21三体。结论四腔心切面＋流出道切面对胎儿先天性心脏病的产前超声筛查有较高的检出率，此产前超声筛查诊断模式在临床上诊断胎儿先天性心脏病切实可行。

Objective To assess prenatal heart disease screening program by ultrasound, Methods A total of 11 544 second-trimester screening scans were performed before 24 weeks＇ gestation on 11 410 women between February 2004 and May 2007 in Obstetrics and Gynecology Hospital of Fudan University. Fetal heart screening was based on four-chamber and outflow tract views（ left ventricular outflow ＋ three vessel view ）. The sensitivity and specificity of different views were evaluated. Follow-up data of newborns was obstained. Results （1）Among 11 544 cases ,48 cases of congenital heart disease （CHD） were diagnosed in utero. Six cases were false negative, and 2 cases were false positive. The incidence of CHD was 0.47% （54/11 544）. （2） Thirty-three CHDs were detected based on the four-chamber view, including 18 ventricular septal defect （9 with conotruncal anomalies）, 6 anomalous atrioventricle valve, 9 disproportion of left/right ventricle. The sensitivity of the four-chamber view alone was 61, 11% （33/54）, and the specificity was 99.98% （ 11 488/11 490）. Fifteen CHDs were detected based on the left ventricular outflow and three vessel views, including 1 pulmonary atresia, 3 pulmonary valve stenosis, 2 transposition of the great arteries （ TGA ）, 1 pulmonary stenosis with TGA, 6 tetralogy of Fallot, and 2 pulmonary stenosis. The sensitivity of the combination of the four-chamber and outflow tract views was 88. 89% （48/54） , and the specificity was 99.98% （11 488/11 490）. （3）Of48 CHDs,11 cases were accompanied by other malformations. Eleven cases were performed amniocentesis, amony whom 5 cases were trisomy 21. Conclusion The screening program based on four-chamber and outflow tract views shows good sensitivity and excellent specificity. Our prenatal heart screening program is clinically feasible.