胎儿心内膜垫缺损的产前诊断及相关因素分析

The analysis of prenatal diagnosis of congenital atrioventricular septal defect with the related factors

目的探讨胎儿心内膜垫缺损畸形的产前诊断及相关因素。方法对北京大学人民医院2004年1月-2007年8月产前及产后诊断的先天性心脏畸形中18例心内膜垫缺损胎儿产前超声特征、合并心内、心外其他畸形及与染色体异常的相关性进行分析。结果18例产前诊断的胎儿心内膜垫缺损中,完全性心内膜垫缺损14例（77.8%）;不完全性心内膜垫缺损4例（22.2%）;合并内心畸形12例（66.7%）,心外畸形8例（44.4%）,未合并其他畸形2例（11.1%）。产前及产后共行染色体核型分析14例,诊断21-三体2例（14.3%）,其余染色体核型正常。结论胎儿心内膜垫缺损畸形易合并心内大血管畸形及心外畸形,与21-三体有一定相关性,妊娠期以四腔心联合左右室流出道切面的心脏超声筛查法具有较高的诊断率,临床应重视单纯表现为心内膜垫缺损胎儿产前染色体检查的必要性。

Objective To evaluate the prenatal diagnosis of congenital atrioventricular septal defect （AVSD） and analysis the relative factors. Methods 18 cases of AVSD diagnosed during January 2004 to August 2007 in Peking University People＇ s Hospital were studied retrospectively. The intra and extra cardiac malformations combined in these fetuses and chromosomal anomalies of the AVSD were analyzed. Results Total 18 cases AVSD were diagnosed prenatally. Among them, 14 cases found with complete AVSD （77.8%） and 4 cases with incomplete AVSD （22.2 % ）, 12 cases combined with intra cardiac malformations （66.7 % ） and 8 cases with extra cardiac malformations （44.4%） . 2 cases detected any malformations （11.1%）. Chromosomal kartype were carried out in 14 cases both in pregnancy and after borne. 2 cases （14.3%） were found to be trisomy- 21carrier and others exhibited normal kartype. Conclusions AVSD usually combine with intra and extra cardiac malformations and relate with trisomy- 21. AVSD can be detected prenatally with high diagnose rate by using echocardiography in four - chamber combine outflow tract views. It is necessary to the chromosome abnormality screening in simple AVSD fetus during the pregnancy.