56例胎儿肾囊性病变产前超声诊断与妊娠结局分析

Analysis of prenatal ultrasound diagnosis and pregnancy outcome of 56 cases of fetal renal cystic disease

目的探讨胎儿肾囊性病变产前超声特点与妊娠结局的关系,为该类病变产前咨询和妊娠管理提供参考依据。方法回顾性分析2015年1月1日-2017年12月31日在解放军总医院第一医学中心就诊发现胎儿肾囊性病变的56例病例超声影像学特点,对其妊娠结局进行随访。结果56例病例中13例单纯性肾囊肿病例中足月分娩10例,新生儿无异常,3例引产;18例多囊性肾发育不良病例中足月分娩10例,引产8例,足月分娩中的1例新生儿生后手术,余无异常;15例遗传性多囊肾病例中13例合并羊水少,引产14例,1例足月分娩,无异常。10例合并其他畸形者均引产。35例引产胎儿中14例行尸检,病理诊断均与产前超声诊断相符,12例取胎儿组织标本行基因检测,6例找到了致病突变基因。结论胎儿肾囊性病变产前超声诊断为产前咨询决定是否继续妊娠提供依据,不伴羊水异常的单纯性肾囊肿及单侧多囊性肾发育不良胎儿预后良好,但出生后应严密随访;超声特点为遗传性多囊肾且合并羊水过少时,胎儿预后不良,可建议引产。如同时合并其他器官异常,胎儿多囊肾样改变可能是某遗传综合征临床表现之一。对引产胎儿做尸检或取组织做基因检测,可以帮助发现胎儿肾囊性病变病因。

Objective To investigate the prenatal ultrasonographic features of fetal renal cystic disease and observe the associated pregnancy outcomes,and provide evidences for prenatal consultation and pregnancy management of the disease.Methods A retrospective analysis was performed in the prenatal ultrasonographic features of 56 cases of fetal renal cystic disease in the first medical center of Chinese PLA General Hospital from January 1,2015 to December 31,2017,and their pregnancy outcomes were followed up.Results Of the 56 cases,13 had simple renal cyst,10 of them were delivered at full term without abnormality,and labor were induced in the other 3 cases;18 cases had polycystic renal dysplasia,10 of them were delivered at full term,with 1 case received postnatal surgery,and labor were induced in the other 8 cases;15 cases had hereditary polycystic kidney,13 of them were combined with oligohydramnios,only 1 case was delivered at full term and labor were induced in 14 cases;10 cases with other malformations were induced labor.The autopsy results in 14 cases showed that their pathological diagnosis were consistent with the prenatal ultrasound diagnosis.Genetic test was performed in 12 cases,and pathogenic mutation genes were found in 6 cases.Conclusion According to the characteristics of kidney cystic lesions,prenatal ultrasound can provide evidences for prenatal consultation.The cases of simple renal cyst without amniotic fluid abnormality and cases with unilateral polycystic renal dysplasia have good prognosis,but close follow-up should be performed.While,the cases with hereditary polycystic kidney plus oligohydramnios have poor prognosis,inducing labor is suggested.If combined with other organ abnormalities,fetal kidney cystic lesions may be one of the manifestations of a genetic syndrome.Autopsy or genetic test is helpful to find out the etiology of fetal renal cystic disease.