产前超声检查胎儿心脏异常表现与染色体异常的相关性

The correlation between fetal cardiac abnormalities and chromosomal abnormalities by prenatal ultrasonography

目的研究产前超声检查胎儿心脏异常表现与染色体异常的相关性。方法选择我院2015年3月~2018年6月纳入的115例产前超声检查胎儿心脏异常表现的孕妇,均进行侵入性产前诊断,观察胎儿心脏异常表现与染色体异常的相关性。结果我院115例产前超声检查的孕妇均显示先天性心脏异常,其中单发心脏异常75例,占65.22%;多发心脏异常37例,占32.17%。心脏异常合并心外异常55例,占47.83%;心脏异常未合并心外异常57例,占49.57%;心律失常3例,占2.61%。室间隔缺损20例,占17.39%;心内膜垫缺损5例,占4.35%,法洛四联症9例,占7.83%;主动脉缩窄9例,占7.83%,肺动脉狭窄8例,占6.96%;单一大动脉干畸形5例,占4.35%;完全型或矫正型大动脉转位4例,占3.48%;右室双出口4例,占3.48%;心脏强回声47例,占40.87%;三尖瓣返流4例,占3.48%;永存左上腔静脉伴冠状静脉窦扩张26例,占22.61%;心包积液2例,占1.74%;心律失常3例,占2.61%;主动脉或肺动脉流速升高2例,占1.74%;右位主动脉弓9例,占7.83%;右锁骨下动脉迷走15例,占13.04%。其他8例,占6.96%。染色体异常共检出11例,检出率为9.57%。结论胎儿心脏异常与染色体异常密切相关,产前超声检查具有重要意义,能够尽早发现胎儿心脏异常及心脏外异常情况,同时联合染色体数目及基因检查,为避免出生缺陷提供保障。

Objective:To study the correlation between fetal cardiac abnormalities and chromosomal abnormalities by prenatal ultrasound. Methods:115 pregnant women with abnormal fetal cardiac manifestations examined by prenatal ultrasound from March 2015 to June 2018 were selected for invasive prenatal diagnosis,and the correlation between abnormal fetal cardiac manifestations and chromosomal abnormalities was observed. Results:All 115 pregnant women examined by prenatal ultrasound in our hospital showed congenital cardiac abnormalities,of which 75 cases(65.22%)were single cardiac abnormalities.37 cases(32.17%)had multiple cardiac abnormalities.55 cases(47.83%)of cardiac abnormalities were complicated with extracardiac abnormalities.57 cases(49.57%)of cardiac abnormalities were not complicated with extracardiac abnormalities.Arrhythmia occurred in 3 cases(2.61%).There were 20 cases of ventricular septal defect(17.39%). There were 5 cases of endocardial cushion defect(4.35%)and 9 cases of tetralogy of Fallot(7.83%). Aortic coarctation occurred in 9 cases(7.83%)and pulmonary stenosis in 8 cases(6.96%).Five cases(4.35%)had single aortic trunk malformation. Complete or corrected transposition of great arteries was found in 4 cases(3.48%).Four cases(3.48%)had double outlets of right ventricle.Forty-seven cases(40.87%)had cardiac echoes.Tricuspid regurgitation occurred in 4 cases(3.48%).26 cases(22.61%)had persistent left superior vena cava with coronary sinus dilatation.Pericardial effusion occurred in 2 cases(1.74%). Arrhythmia occurred in 3 cases(2.61%).Aortic or pulmonary flow velocity increased in 2 cases(1.74%).9 cases(7.83%)had right aortic arch.15 cases(13.04%)had right subclavian artery vagus. The other 8 cases accounted for 6.96%.A total of 11 cases of chromosomal abnormalities were detected,the detection rate was 9.57%. Conclusion:Fetal cardiac abnormalities are closely related to chromosomal abnormalities. Prenatal ultrasonography is of great significance.It can detect fetal cardiac abnormalities and extracardiac abnormalities as early as possible. At the same time,it can combine chromosome number and gene examination to provide protection for avoiding birth defects.