胎儿左心发育不良综合征的超声特征与染色体异常相关性研究  

The Prenatal Sonographic Characteristics of Hypoplastic Left-heart Syndrome and Relationship with Chromosome Abnormalities

作　　者：朱云晓[1] 谢红宁[1] 李丽娟[1] 何花[1] 罗艳敏 

机构地区：[1]中山大学附属第一医院超声科 中山大学超声诊断与介入超声研究所超声科,州市510080 [2]胎儿医学中心

出　　处：《中国超声医学杂志》2009年第4期420-423,共4页Chinese Journal of Ultrasound in Medicine

基　　金：广东省部产学研合作专项基金项目（No.20078090400140）

摘　　要：目的探讨胎儿左心发育不良综合征（HLHS）的超声特征及其合并心内、心外结构异常与染色体异常的关系。方法总结2 980例次中产前超声诊断为胎儿HLHS、经产后或引产后病理证实的病例其超声声像特征、合并心内、心外结构异常等特征,分析HLHS与染色体核型、临床结局的关系。结果产前系统超声检查检出39例胎儿HLHS,孕妇中位数年龄29岁,中位数孕周24周。33例引产,4例活产儿均在8d内死亡,1例晚期流产,1例失访。超声扫查显示39例HLHS均有二尖瓣、主动脉瓣或升主动脉的狭窄或闭锁;29例（74.4%）合并其他心内异常,31例（79.5%）合并心外异常,22例（56.4%）同时合并心内、心外异常;18例接受胎儿染色体检查,染色体核型正常6例,异常核型12例,包括13三体征4例,18三体征3例,1例45,X,4例染色体片段异常;同时合并心内、心外异常的9例HLHS胎儿染色体全部异常,4例仅合并心外异常者有3例染色体异常;1例单纯HLHS和4例仅合并心内异常胎儿染色体全部正常,HLHS合并心外异常的染色体异常率明显高于未合并心外异常者（P=0.001）。结论产前超声系统扫查胎儿心脏及其全身结构辅助诊断HLHS及其合并异常,有助于指导临床处理,HLHS胎儿同时有心外异常时提示其合并染色体异常的可能性大。Objective To investigate the relationship between sonographic characteristics of HLHS, with or without other inter-cardiac and extra cardiac anomalies, and chromosome abnormalities. Methods To collect and analyze the sonographic manifestation of cardiac and extra-cardiac deformity, clinic end, and results of autopsy and chromosome analysis for all cases of fetus with confirmed HLHS in 2980 gravidas examined in our hospital. And analyze the relationship between combined anomalies of fetal HLHS and their karotype results. Results There were 39 ca- ses diagnosed as fetal HLHS. The medium ages for the mothers were 29 years old, medium gestational weeks were 24 weeks. Within 33 cases of induced abortion, 20 cases underwent autopsy. The US examination showed mitral valve, aortic valve and ascending aorta stenosis or atresia in all of 39 cases. Other-cardiac anomalies were found in 28 （71.8 %） cases. Extracardiac anomalies were found in 31 （79.5%） cases. 18 cases underwent chromosome analysis for the fetus, with the results of 6 cases of normal karotype, 12 cases of chromosome abnormalities. Within the 18 cases of HLHS, the 9 cases with both other-cardiac and extra-cardiac anomalies and 3 of 4 cases with only extra-cardiac anomalies were found with chromosome abnormality. 1 case without other anomalies and 4 cases with only other-cardiac anomalies were found with normal karotype. The ratio of chromosome abnormality in fetuses of HLHS with extra-cardiac anomalies was significant higher than in fetuses of HLHS without extra-cardiac anomalies （P= 0. 001）. Conclusions The systemic sonographic examination is helpful for prenatal diagnosis of HLLIS and associated anomalies; fetuses of HLHS combined with extra-cardiac abnormalities have high risk in associated with chromosome abnormalities.

关 键 词：产前诊断 左心发育不良综合征 染色体异常 超声检查 

分 类 号：R541.1[医药卫生—心血管疾病] R596.1[医药卫生—内科学]