胎儿心室内强回声斑在染色体检测中的应用研究

Application of fetal echogenic intracardiac focus in chromosome detection

目的探讨产前超声发现胎儿心室强回声斑(EIF)与染色体异常的关系。方法选择行产前超声筛查的4500例单胎孕妇的超声图像进行回顾性分析,产前超声发现EIF并成功随访到染色体检测结果的143例胎儿。按照胎儿合并或不合并其他超声异常分组,并根据EIF出现在心室的不同部位分为亚组。孤立性EIF组共86例,其左心室EIF亚组82例,右心室EIF亚组3例,双室EIF亚组1例;非孤立性EIF组共57例,其左心室EIF亚组53例,右心室EIF亚组1例,双室EIF亚组3例。结果孤立性EIF组纳入86例,非孤立性EIF组纳入57例。染色体结果异常者共计12例,染色体结果无异常者131例,异常率9.16%。孤立性EIF组与非孤立性EIF组染色体异常结果比较差异无统计学意义(P>0.05),按照EIF出现在不同部分,这3个亚组染色体异常结果无统计学差异(P>0.05),所有病例中检出染色体非整倍体异常均为21-三体,共计6例,其中4例为孤立性左心室EIF,2例为EIF合并胎儿鼻骨发育异常。结论EIF与21-三体的发生存在相关性,超声诊断EIF后需建议孕妇行染色体核型或CMA检查,以避免漏诊胎儿染色体异常。

Objective To investigate the relationship between fetal echogenic intracardiac focus(EIF)and chromosomal abnormalities.Methods The ultrasound images of 4500 singleton pregnant women who underwent prenatal ultrasound screening were retrospectively analyzed.143 fetuses were enrolled in the study,and all of them were diagnosed with EIF by prenatal ultrasound and followed up with chromosome test.According to whether fetuses had other ultrasound abnormalities,the cases were divided into isolated EIF group and non-isolated EIF group.According to the presence of EIF in different parts of the ventricle,each group was further divided into left ventricular EIF,right ventricular EIF and biventricular EIF subgroups.Results 86 cases were in isolated EIF group and 57 cases were in non-isolated EIF group.There were 12 cases with chromosomal abnormalities and 131 cases without chromosomal abnormalities,there was no significant difference in the incidence of chromosomal abnormalities between isolated EIF group and non-isolated EIF group(P>0.05).According to the presence of EIF in different ventricles,there was also no significant difference in the incidence of chromosomal abnormalities among the three subgroups(P>0.05).In all cases,there were six cases in chromosome aneuploidy 21-trisomy,including four cases of isolated left ventricular EIF and two cases of EIF combined with fetal nasal bone dysplasia.Conclusion There is positive correlation between EIF and 21-trisomy.Pregnant women with EIF should be advised to check chromosome karyotype or CMA so as to avoid missed diagnosis of fetal chromosomal abnormalities.