产前诊断对先天性心脏畸形的诊断及临床分析

摘要

Objective: To explore the diagnosis and clinical analysis of prenatal diagnosis in congenital heart disease.Method: To retrospectively analyze heart malformations, cardiac malformations, and chromosomal abnormalities features in CHD fetal of 61 pregnant women diagnosed with congenital heart disease (CHD) fetal clinical data in 6982 pregnant women.Result: The atrioventricular septal defect was highest proportion accounting for 44.3% in 61 CHD fetal. Followed by the pulmonary stenosis (13.1%), transposition of great arteries (TGA) (11.5%) and right aortic arch (9.8%) law network of Fallot (8.2%) aortic atresia and stenosis (8.2%) aortic coarctation (6.6%), etc. 11 cases with cardiac malformations single, accounting for 18.0% in 61 cases with congenital heart diseases, 20 cases with recurrent cardiac malformation, accounting for 32.8%. The combined cardiac abnormalities were 41 cases, accounting for 67.2%, the combined chromosomal abnormalities in 28 cases, accounting for 45.9%; 61 cases of CHD contained 56 cases with fetal abortion consent of their families, and to track higher hospital autopsy results or postpartum and prenatal diagnosis in full compliance with 54 cases, accounted for 98.2%, two cases of suspected aortic coarctation postnatal fetal autopsy confirmed interrupted aortic arch, accounting for 3.6% of the 5 cases of newborns born three cases in line with prenatal diagnosis, ultrasound diagnosis rate was 93.4% in full compliance with (57/61), the misdiagnosis rate was 6.6%(4/61).Conclusion: Fetal CHD is often associated with other cardiac malformations, malformations and chromosomal abnormalities, ultrasound and high accurate in the diagnosis of cardiac CHD, there is an important value.%目的：探讨先天性心脏畸形（CHD）多普勒超声检查的诊断特点。方法：回顾性分析6982例孕妇中61例确诊为先天性心脏畸形胎儿的临床资料，分析CHD胎儿合并心内畸形、心外畸形及染色体异常的特点。结果：61例孕妇胎儿产前诊断异常中，房室间隔缺损所占比例最高，为44.3%，其他依次为肺动脉狭窄（13.1%）、大动脉转位（TGA）（11.5%）、右位主动脉弓（9.8%）、法络四联症（8.2%）、主动脉瓣闭锁或者狭窄（8.2%）、主动脉缩窄（6.6%）等，61例胎儿先天性心脏畸形中11例为心脏单发畸形，占比18.0%，20例为心脏复发畸形，占比32.8%；合并心外畸形41例，占比67.2%，合并染色体异常28例，占比45.9%；61例CHD胎儿家属同意引产有56例，追踪上级医院尸检结果或产后与产前诊断完全符合54例，占比98.2%，2例疑似主动脉缩窄胎儿产后尸检证实为主动脉弓中断，占比3.6%，出生的5例新生儿中3例符合产前诊断，超声诊断的完全符合率为93.4%（57/61），误诊率为6.6%（4/61）。结论：胎儿CHD常合并有其他心内畸形、心外畸形及染色体异常，超声检查在CHD诊断中准确度高，有重要的价值。