先天性脐膨出合伴畸形的预后分析

Outcomes of omphalocele complicated with malformations

目的探讨脐膨出合伴畸形的发生与预后转归情况,以期提高脐膨出患儿生存率及生活质量。方法收集上海交通大学医学院附属新华医院2002年1月至2021年1月收治的136例脐膨出患儿的临床资料,其中男80例,女56例,平均孕周为37.9周(30.0~41.0周),平均出生体重3123 g(1290~4625 g),低体重儿19例。以脐部缺损5 cm为界,将患儿分成巨型脐膨出(≥5 cm)和小型脐膨出(<5 cm),其中巨型脐膨出患儿59例,小型脐膨出患儿77例。比较分析患儿基本资料、合伴畸形、病死率及外科处理后存活患儿的生长发育、智力、脐部整形情况。数据采用SPSS 23.0软件进行统计。结果患儿总合伴畸形率为79.4%(108/136),合伴畸形以心血管畸形(80例),消化道畸形(64例)和泌尿系畸形(23例)为主。巨型及小型脐膨出患儿合伴畸形率分别为81.4%(48/59)和77.9%(60/77),两者比较差异无统计学意义。136例患儿中死亡12例,放弃治疗15例;死亡与出生体重、手术时间、环口大小及肝疝出明显相关(P<0.01)。随访患儿82例,平均随访时间为5年(0.25~18.00岁)。巨型脐膨出和小型脐膨出患儿在营养状况、智力及脐部外观上差异存在统计学意义(P<0.01)。脐部整形优为84.1%(69/82)。是否合伴畸形的脐膨出患儿的生长发育、智力等差异无统计学意义。结论先天性脐膨出合伴畸形发生率高,患儿死亡与出生体重、手术时间、环口大小及肝疝出相关。合伴畸形与否不影响患儿术后生长及智力发育。

Objective To explore the outcomes of omphalocele complicated with malformations so as to improve survival rate and quality-of-life of children with omphalocele.Methods From January 2002 to January 2021,136 children of omphalocele were reviewed.There were 80 boys and 56 girls in omphalocele group with an average gestational age of 37.9(30-41)weeks and an average birth weight of 3123(1290-4625)gram and 19 infants had a low-birth weight.Omphalocele was described as giant(≥5 cm,n=59)and small(<5 cm,n=77).Basic profiles,concurrent malformations,mortality,growth and development and intelligence evaluations were recorded and compared with healthy children with the same age.The relevant data were analyzed by SPSS 23.0.Results With an overall concurrent malformation rate of 79.4%(108/136),malformation rate was 81.4%(48/59)in giant group and 77.9%(60/77)in small group.There was no inter-group difference.The three leading concurrent malformations were cardiovascular defects(n=80),digestive tract defects(n=64)and urinary tract malformations(n=23).Of the 136 cases,12 died and 15 were abandoned.Mortality was correlated with birth weight,long operative duration,size of umbilical defect and hepatic hernia(P<0.01).The average follow-up period of 82 children was 5(0.25-18)years.Significant inter-group differences existed in growth,intelligence level and umbilical appearance(P<0.01).Overall satisfaction rate of umbilical plastic surgery was 84.1%(69/82).No difference existed in growth,development and intelligence in children with or without concomitant malformation.Conclusions Concurrent malformations are common in omphalocele children.Mortality is associated with birth weight,long operative duration,defect size and hepatic hernia.Concurrent malformations do not affect postoperative growth and intellectual development of children.