115例胎儿心脏畸形的产前诊断分析

Analysis on the prenatal diagnosis of fetal heart malformation in 115 cases

目的:探讨胎儿心脏畸形的特点及其与染色体异常的关系。方法:对我院产前超声诊断的115例胎儿心脏畸形进行侵入性产前诊断,分析心内外畸形及染色体异常的类型和比例。结果:115例胎儿中心脏单发畸形74例,多发畸形41例;未合并心外畸形54例,合并心外畸形61例。染色体异常31例,包括21三体15例和18三体11例,右室双出口、室缺、完全型心内膜垫缺损及三尖瓣反流合并染色体异常比例分别占63.6%、44.4%、35.7%及33.3%。心脏单发畸形中24.3%合并染色体异常,心脏多发畸形中31.7%合并染色体异常,两者比较差异无统计学意义(P>0.05);未合并心外畸形中14.8%合并染色体异常,合并心外畸形中37.7%合并染色体异常,两者比较差异有统计学意义(P<0.05)。结论:胎儿心脏畸形常合并心外畸形及染色体异常,染色体异常以非整倍体为主,其中右室双出口、室缺、完全型心内膜垫缺损及三尖瓣反流合并染色体异常较常见,合并心外畸形时,染色体异常的比例增加。

Objective：To evaluate the features of fetal heart malformation and the relation-ship with chromosomal abnormality. Methods：Invasive prenatal diagnosis and chromosome analysis were given to 115 cases of fetal heart malformation diagnosed by prenatal ultrasound examination, and the type and ratio of the cardiac malformation,extracardiac malformation and chromosomal ab-normality were analyzed. Results：115 cases included 74 of single heart defect,41 of multiple heart defects,54 of simple heart defect,61 of cases with extracardiac defects. 31 of cases were complicated with chromosome abnormalities,including 15 of trisomy 21 and 11 of trisomy 18. 63. 6% of double outlet right ventricle,44. 4% of ventricular septal defects,35. 7% of complete endocardial cushion defects and 33. 3% of tricuspid regurgitation were complicated with chromosomal abnormalities re-spectively. The ratio of chromosome abnormality in single heart defect （24. 3%） was not significant-ly different from that in multiple heart defects （31. 7%）（P〉0. 05）. The ratio of chromosome abnor-mality in simple heart defect （14. 8%） was significantly different from that in cases with extracardi-ac defects （37. 7%）（P〈0. 05）. Conclusion：Extracardiac and chromosomal abnormalities are com-mon in fetal heart malformation,and aneuploid accounts for the major proportion of chromosomal ab-normalities. Double outlet right ventricle,ventricular septal defect,complete endocardial cushion de-fects and tricuspid regurgitation are frequently complicated with chromosome abnormalities. The ratio of chromosome abnormality increases in fetal heart malformation when complicated with extracardiac defects.