超声在胎儿单纯性室间隔缺损诊断、分型及其演化中的临床价值

Clinical value of echocardiography in prenatal diagnosis, classification and follow-up of evolution in fetal isolated ventricular septal defect

目的探讨超声心动图在胎儿单纯性室间隔缺损（isolated ventricular septal defect，i-VSD）的产前诊断、病理分型及孕期和出生后随访中的临床价值。方法对6145例胎儿超声检查中明确诊断为i-VSD的95例胎儿的心脏超声表现、病理解剖分型、遗传学检查及孕期和出生后超声随访1年的结果进行分析。结果95例i-VSD彩色多普勒显像显示心室水平双向分流，缺损大小0．9～13．4mm，平均（3．3±2．0）mm。其中膜周型60例（63．2％），肌型33例（34．7％），干下型1例（1．1％），多发1例（膜周型＋肌型）。32例进行染色体检查，其中正常28例，21-三体综合征3例（9．4％），18-三体综合征1例（3．1％）。失访14例．活体出生50例，死亡5例，引产23例（尸检证实3例），未完成随访3例；50例出生后超声心动图复查与产前诊断结果一致，其中自然愈合13例（25％），手术2例，35例仍在随访观察。结论胎儿期i—VSD以单发及膜周型最常见，部分可自然愈合，对遗传学异常也具有重要提示作用；超声心动图在i-VSD的产前诊断、随访观察和治疗方案制定等方面具有重要价值。

Objective To study clinical value of echocardiography in prenatal diagnosis,classification and follow-up after birth of isolated ventricular septal defect （i-VSD）. Methyls In 6145 fetuses undergoing fetal echocardiography,95 fetuses were diagnosed with i-VSD. The characteristics of fetal echocardiography, pathological classification of i-VSD, findings of genetic examination and follow-up of evolution of VSD were analyzed. Results In 95 fetuses with i-VSD,color Doppler flow imaging displayed bi-directional shunts at the ventricular level. Defect sizes ranged from 0.9 mm to 13.4mm,averaged （3.3 ± 2.0）mm. There were 60 cases （63.2%） with perimembranous i-VSD,33 cases （34.7%） with muscular i-VSD, 1 cases （1.1%） with subarterial i-VSD, 1 cases （1.1%） with muhiple i-VSD. Chromosome tests were performed successfully in 32 cases. Among these cases,there were 3 cases （9.4%） with Trisomy 21,1 case （3.12%） with Trisomy 18 and 28 cases with normal chromosomes. Among the cases, 14 were lost to follow-up,50 were life labor,5 were stillbirth,23 were induced abortion and 3 had not finished follow-up. Among 50 cases of life labor,VSD were naturally closed in 13 cases （25%） prenatally or in one year after the birth. VSD were surgically repaired in 2 cases after birth. 35 cases were still under follow-up. Conclusions Solitary and perimembranous i-VSDs were the most common types. Part of fetal i-VSDs naturally closed after birth. Prenatal i-VSD is a valuable suggestive clue for genetic abnormalities. Echocardiography has an important value in prenatal diagnosis, follow-up and treatment of VSD and may play an important role in predicting fetal genetic abnormality.