超声心动图对唐氏筛查胎儿先心病的诊断

Diagnosis of congenital heart diseases in Down's screening by fetal echocardiography

目的探讨胎儿超声心动图在唐氏筛查高危胎儿先天性心脏畸形中的诊断作用。方法收集2012年11月至2014年11月间共4 875例妊娠22~28周的孕妇,依据唐氏筛查结果将其分为高风险、低风险、未检查3组。选用胎儿超声心动图软件,应用局部放大功能,采用心脏四腔心观、五腔心观、左右室流出道观、大血管短轴观、上下腔静脉及三血管-气管平面观,判断胎儿是否发生先天性心脏病。结果在4 875例受检者中,唐氏筛查低风险者3 656例,高风险者147例(21-三体103例,18-三体36例,Turner8;例),其余1 072未进行染色体检查。超声心动图提示在合并有先天性心脏病的胎儿中,唐氏筛查高风险组的引产率明显高于低危组(x^2=5.08,P=0.02)。唐氏筛查高风险组的先天性心脏病发生率显著高于低风险组(x^2=718.89,P=0.00)。结论唐氏筛查高风险组中21-三体者多见,存在染色体核型异常的发生率也较高。超声心动图检查发现,高风险组的心脏畸形发生率远高于低风险组。及早对唐氏筛查高危患者进行产前检查,对减少围产期胎儿死亡具有重要意义。

Objective To explore the role of fetal echocardiogram in diagnosis of congenital heart disease in high-risk fetus detected in Down＇s screening.Methods From November 2012 to November 2014 totally 4 875 pregnant women at gestational age of 22-28 weeks were divided into high-risk group, low-risk group and unexamined group according to Down＇s screening results.By using zoom technique, fetal echocardiogram software was used to judge whether congenital heart diseases developed from the views of four chamber, five chamber, long axis view, short axis view, superior and inferior vena cava and three-vessel-trachea view.Results In 4 875 detected cases, 3 656 were classified into low-risk group and 147 were classified into high-risk group （103 cases of trisomy 21, 36 cases of trisomy 18, 8 cases of Turner） .The other 1 072 cases did not take Down＇s screening.Echocardiography indicated that among fetuses complicated with congenital heart disease the abortion rate in high-risk group was significantly higher than in low-risk group （χ^2 =5.08,P=0.02）.The incidence of congenital heart disease in high-risk group was obviously higher than that in low-risk group （χ^2 =718.89, P=0.00） .Conclusion In high-risk group trisomy 21 is common and the incidence of chromosome abnormalities is higher.Echocardiography shows that the incidence of cardiac anomalies is remarkably higher in high-risk group than in low-risk group.Early prenatal examination for high-risk fetuses screened in Down＇s screening is of great importance for reducing perinatal mortality.