摘要
目的探讨胎儿心内强回声病灶出现的意义和临床处理原则。方法对产前超声检查发现的163例胎儿心内强回声病灶(EIF)孕妇进行临床追踪随访(其中,存在其他染色体异常高危因素的孕妇为43例)。对自愿选择并愿意承担羊膜腔或脐静脉穿刺风险的孕妇,行产前染色体核型分析。对同时存在其他胎儿异常而选择终止妊娠放弃胎儿,在家属知情同意情况下行尸体解剖和病理检查。对继续妊娠者,在新生儿期至2岁内行心脏结构和功能复查。结果 1.163例胎儿EIF中,124例EIF仅存在于左心室(76.1%),34例EIF仅存在于右心室(20.9%),5例EIF同时存在于两左右心室(3.1%)。2.163例胎儿EIF中,3例合并心脏畸形(1.8%),3例合并染色体异常(1.8%)。其中1例为法洛四联征伴发21-三体;1例为伴发室间隔膜部缺损伴发21-三体,1例为三尖瓣下移畸形(染色体正常),另1例为18-三体。此4例患者行引产放弃胎儿,胎儿病理解剖结果显示EIF为心室乳头肌钙化灶。3.其他159例仅存在EIF而不伴其他超声异常者,21例选择孕期行羊膜腔或脐静脉穿刺(19例存在高危因素),染色体核型分析结果提示染色体均正常。余138例中,114例(82.6%)分娩时取脐带血行染色体核型分析,1例9号染色体臂间倒位,其余染色体均正常。另1例伴发左手6指畸形。4.在临床随访中发现11例(6.9%)EIF消失,其中2例于妊娠晚期消失,9例于2岁内消失。其余148例EIF在随访期内与胎儿期表现相同,但没有任何不良临床表现。结论 1.当胎儿存在EIF时,其发生心脏畸形的风险略高于正常人群。2.孤立存在的胎儿EIF没有病理意义,没有明显增加胎儿染色体异常风险,胎儿临床结局良好。3.对于伴发胎儿其他结构异常或存在染色体异常高危因素的胎儿心内EIF,其存在染色体异常的风险较高。
Objective：To investigate the clinical significance of an echogenic intracardiac focus in the fetal heart.Methods：163 pregnancies with an echogenic intracardiac focus in the fetal heart were included in this study （43 cases among them were high risk pregnancy for abnormal chromosome）.Blood sample from umbilical vein or amniotic fluid sample from amniocentesis was used to evaluate fetal chromosome if the mother will to accept the risks for these invasive tests.An autopsy was conducted for cases whose pregnancy was terminated.A fetal echocardiography was performed for a close following-up was given for those continuing pregnancy until two years after delivery,and for statistic analysis,the Cochran＇s Mantel-haenszel statistics were used.Results：1.Among 163 pregnancies with EIF,EIF was located in left ventricle only in 124 cases,located in right ventricle only in 34 cases,located in both ventricles in 5 cases.2.Among 163 pregnancies with EIF,three cases were found heart defects,two of them complicated with 21-trisomy.Three cases were found chromosome abnormality （two were 21-trisomy,see above;one was 18-trisomy）.All four cases chose a termination,the pathological examination showed that EIF was caused by calcification of papillary muscular.3.Other 159 cases with EIF,135 were performed the chromosome analysis,and the results showed that the chromosome was abnormality in one case [inv （9）];another case was found hexadactyly in the left hand.4.All the 159 cases had a good clinical outcome and 11 cases （6.9%） had EIF disappeared within two years after delivery.Conclusions：1.The risk of heart malformation is slightly higher in fetuses with EIF compared with normal population.2.Isolated EIF has no clinical significance,it doesn＇t increase risk for chromosome abnormalities and such fetus can have a good clinical outcome,3.The risk for chromosome abnormalities increased for cases with EIF complicating other structure abnormalities or having other high-risk factors of chromosome abnormalities and heart malformation.
出处
《中国优生与遗传杂志》
2010年第7期56-57,62,共3页
Chinese Journal of Birth Health & Heredity
基金
国家十一五科技支撑计划资助
项目号:2006BAI05A04
辽宁省科技攻关项目资助课题
项目号2005225008
关键词
胎儿
心脏
强回声灶
Fetus
Heart
Echogenic intracardiac focus
