先天性心脏畸形的产前诊断及临床分析

目的探讨先天性心脏畸形的产前诊断及临床意义。方法本研究应用Yagel5个心脏横面和心脏长轴切面进行胎儿心脏扫描，并有效多普勒血流技术、彩色血流、M型超声等超声仪器各项功能技术，对2002至2004年982例先天心脏畸形高危患者进行胎儿心脏全方位检查，并对引产胎儿进行尸体解剖核对产前诊断的正确性，并进行胎儿染色体分析；对产前诊断未发现明显异常的胎儿进行临床随访，胎儿出生后进行新生儿或要儿心脏超声检查，判定产前诊断的正确性。结果（1）982例先天心脏畸形高危患者中，检查发现胎儿心脏结构异常为46例（4．7％）。其中应用单纯四腔心即能诊断的先天性胎儿心脏结构异常为32例，其余14例需同时结合其他心脏检测平面诊断。（2）41例引产胎儿中，32例进行尸体解剖，病理结果与产前超声检查符合率为93．8％（30／32），其中1例患者病理诊断为永存动脉干畸形，产前诊断为法洛四联症；另1例为右心室双流出道畸形，产前诊断为大动脉转位。（3）46例患者中，32例进行胎儿染色体检测，合并染色体异常8例（25．0％）。（4）5例为产前诊断右心系统略大胎儿，分娩后新生儿或要儿心脏超声检查，结果与产前基本相同，表现为单纯右心系统略大，但新生儿和要儿无任何临床症状。（5）936例产前诊断为正常胎儿心脏患者，新生儿或要儿心脏超声检查发现室间隔缺损1例，动脉导管未闭2例，房间隔缺损1例。结论（1）应用本研究方法，以先天心脏畸形高危患者为筛查对象，产前诊断先天性心脏畸形阳性率为4．7％，产前诊断与尸体解剖符合率为93．8％。（2）应用本研究方法可使高危人群产前诊断胎儿先天性心脏畸形的敏感性达92．0％，特异性达99．6％。（3）单纯左右心比例轻中度失调胎儿可能有较好的临床预后。

Prenatal diagnosis of fetal congenital heart abnormalities

Objective To study the clinical significance of prenatal diagnosis of congenital heart disease(CHD). Methods Totally, 982 high-risk pregnant women for fetal heart abnormality were included in this study and scanned using ultrasound with Yagel's heart examination methods. Autopsy was performed for the newborns when possible. Blood samples were taken from the fetal heart for karyotyping. Those fetus without abnormal findings prenatally were followed up and neonatal echocardiography was performed. Results (1) Forty-six cases (4. 7%) were found with fetal heart abnormalities and 69. 6% of them were diagnosed by four chamber view only and the rest (30. 4%) by combining other views. (2) Among the 41 women who were induced after prenatal diagnosis of fetal CHD, 32 accepted fetal autopsy. The unanimous conclusion between prenatal diagnosis and autopsy was 93. 8%(30/32). (3) Thirty-two of the 46 cases received fetal karyotyping among which 8 cases (25.0%) with abnormal chromosome. (4) Five cases were found with slightly larger right ventricle and atrium than those of the left, and it was confirmed after birth without any clinical features. (5) Among the 936 cases without prenatal detected abnormalities, 1 case was diagnosed with ventricular septal defect after birth, 2 with patent ductus arteriosus and 1 with atrial septal defect. Conclusions The detective rate of CHD among high risk population is 4.7% by using the five transverse planes according to Yagel's disccription with the coincidental rate of 93. 8% between prenatal diagnosis and autopsy. The sensitivity and specificity is 92.0% and 99. 6% using the five transverse planes technique, respectively.