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

摘要

Objective To study clinical value of echocardiography in prenatal diagnosis,classification and follow-up after birth of isolated ventricular septal defect (i-VSD).Methods 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 13.4 mm,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 multiple 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.%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0.9～13.4 mm,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.