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目的探讨超声“四切面”法筛查胎儿严重先天性心脏病与染色体异常的相关性。方法应用超声“四切面”法筛查我院2013年1月~2013年12月孕18-24w胎儿9092例,发现胎儿严重先天性心脏病者经胎儿心超复查确诊,并经孕妇本人及家属同意,采集羊水或脐血,行染色体核型分析。结果发现胎儿严重先天性心脏病21例,分别为青紫型心脏异常14例:单心房单心室房室通道永存动脉干7例,右室双出口1例,心内膜垫缺损2例,三尖瓣闭锁右室发育不良伴肺动脉狭窄1例,法乐氏四联症2例,大动脉转位1例。非青紫型心脏异常7例:室间隔缺损5例,伴主动脉骑跨3例,主动脉狭窄1例。肺动脉狭窄1例。先心病胎儿21例中,染色体异常7例,分别为18-三体3例,21-三体2例,染色体微缺失2例。结论先天性心脏病的病因中染色体畸变占有较重要的地位,两者之间具有一定的相关性,其检测结果可作为临床及孕妇提供是否保留胎儿以及是否手术矫正的依据之一。
Objective To investigate the correlation between ultrasound-based “four-slice” method and screening for fetal congenital heart disease and chromosomal abnormalities. Methods 9092 cases of fetus from 18-24 weeks in our hospital from January 2013 to December 2013 were screened by ultrasonography and “four-slice” method. The fetus with severe fetal congenital heart disease was diagnosed by ultrasonography of fetal heart, And family members agreed to collect amniotic fluid or cord blood, chromosome karyotype analysis. The results showed that 21 cases of fetal severe congenital heart disease, respectively, 14 cases of cyanotic heart abnormalities: a single cardiac ventricular achiral trunk in 7 cases, right ventricular double outlet in 1 case, 2 cases of endocardial cushion defect, tricuspid 1 case of valvular dysplasia and pulmonary stenosis, 2 cases of tetralogy of Fallot and 1 case of transposition of the great arteries. Non-purple heart abnormalities in 7 cases: 5 cases of ventricular septal defect, with aortic cross-ride in 3 cases, 1 case of aortic stenosis. Pulmonary artery stenosis in 1 case. Fetal congenital heart disease in 21 cases, 7 cases of chromosomal abnormalities were 18 cases of trisomy in 3 cases, 21 cases trisomy in 2 cases, 2 cases of chromosomal microdeletion. Conclusions Chromosome aberration plays a more important role in the etiology of congenital heart disease, and the correlation between the two has certain relevance. The test results can be used as a basis for clinic and pregnant women to keep the fetus and whether to correct the operation.