胎儿心内强回声病灶与胎儿染色体异常关系探讨

Relationship of fetal intracardiac echogenic focus to fetal chromosome abnormalities

目的探讨胎儿心内强回声病灶是否与胎儿染色体异常相关。方法本研究对216例产前发现胎儿心内强回声病灶孕妇进行临床追踪随访,并进行仔细胎儿心脏结构检查。对部分合并其他高危因素患者行羊水或脐静脉穿刺采样进行胎儿染色体分析,其余患者引产或足月分娩时取脐静脉血进行染色体分析。结果1.216例孕妇中,存在其他染色体异常高危因素的孕妇为42例,不伴其他高危因素者为174例。2.216例患者进行了胎儿超声心动检查,2例被发现合并胎儿心脏畸形,其中1例为法洛四联症伴21三体,1例为室间隔缺损。此2例患者均发生于高危妊娠组(2/42,4.76%)。3.3例被发现胎儿染色体异常,均为21三体,均发生于高危妊娠组(3/42,7.14%)。结论1.孤立存在的胎儿心内强回声病灶与染色体异常和胎儿心脏畸形无明显相关性。2.伴随其他染色体异常高危因素的胎儿心内强回声病灶时,则胎儿染色体异常和心脏畸形的发生风险明显增高。

Objective： To determine whether an echogenic intracardiac focus in the fetal heart is associated with fetal chromosome abnormalities. Methods： 216 pregnancies with an echogenic intracardiac focus in the fetal heart were included in this study. Blood sample from umbilical vein or amniotic fluid sample from amniocentesis was used to evaluate fetal chromosome. A fetal echocardiography was performed for these cases. Results： 1. 42 cases with an echogenic intracardiac focus in the fetal heart accompanying other high risks for chromosome abnormalities at the same time. 174 cases were isolated an echogenic intracardiac focus in the fetal heart. 2. Two cases were found fetal heart malformation in this population, one was tetralogy of Fallot with 21 trisomy, one was ventricular septal defect. Both of them were in high risks for chromosome abnormalities group. 3. Three cases were found 21 trisomy and all of them were in high risks for chromosome abnormalities group. One case was found an inverse position of chromosome No. 9 in isolated echogenic intracardiac focus group （the chromosome is same as her mother）. Conclusions： 1. An isolated echogenic intracardiac focus in the fetal heart is not associated with increased risk for chromosome abnormalities. 2. An echogenic intracardiac focus in the fetal heart with other high risk factors increased the risk for chromosome abnormalities and heart malformation.