胎儿肾脏实质回声增强的产前诊断结果与预后分析  

Prenatal Diagnosis and Prognosis Analysis of Fetal Hyper Echogenic Kidneys

作　　者：王逾男 黄伟伟[1] 刘畅[1] 李静姝 吴菁[1] WANG Yunan;HUANG Weiwei;LIU Chang(Medical Genetic Center,Guangdong Women and Children Hospital,Maternal and Children Metabolic-Genetic Key Laboratory,Guangzhou Guangdong 510010,China)

机构地区：[1]广东省妇幼保健院医学遗传中心妇幼代谢与遗传病重点实验室,广东广州510010

出　　处：《实用妇产科杂志》2023年第7期541-546,共6页Journal of Practical Obstetrics and Gynecology

基　　金：广州市科技计划项目(编号:202102020847)。

摘　　要：目的:回顾性分析肾脏实质回声增强胎儿的遗传学病因、感染相关病因、影像学检查及预后等,以期建立准确的产前病因学诊断,向患者提供全面的遗传咨询、预后分析、风险评估及出生后的医疗指导等。方法:回顾性分析2015年1月至2021年12月,在广东省妇幼保健院超声诊断科进行超声检查结果提示为胎儿肾脏实质回声增强,并于本院产前诊断中心行介入性产前诊断的单胎妊娠病例,共62例,孤立性胎儿肾脏实质回声增强组14例,非孤立性胎儿实质回声增强组48例。分析其产前诊断结果和妊娠结局,以及截至2022年6月的新生儿或儿童随访结果。结果:62例胎儿肾脏实质回声增强的病例中,孤立性胎儿肾脏实质回声增强组共发现3例致病性染色体异常(21.4%,3/14),非孤立性胎儿肾脏实质回声增强组,共发现17例致病性染色体异常(35.4%,17/48),两组染色体异常率差异无统计学意义(χ^(2)=0.971,P=0.325)。在染色体正常的病例中,有14例行全外显子家系测序检查(Trio-WES),其中4例检出致病性变异(28.6%,4/14)。染色体或基因异常的20个胎儿中,18例选择引产,2例17q12微缺失综合征胎儿被保留。孤立性肾脏实质回声增强组,产前诊断结果未见异常的11例中,1例拒绝随访,余10例预后良好(71.4%,10/14)。非孤立性肾脏实质回声增强组,产前诊断结果未见异常的27例,1例自然流产,9例因超声检查异常引产,1例新生儿期死亡,1例失访,余15例(31.25%,15/48)预后良好。孤立性肾脏实质回声增强组预后明显优于非孤立组(χ^(2)=7.271,P=0.012)。结论:当产前出现胎儿肾脏实质回声增强表型,无论是否孤立,都应建议行G显带,染色体微阵列分析检查。而对于非孤立性胎儿肾脏实质回声增强病例,在染色体核型分析及微阵列分析技术的基础上,建议完善Trio-WES检查。另外孤立性胎儿肾脏实质回声增强并不都是疾病的表现,在排除遗传学Objective:To retrospectively analyze the genetic etiology,infection related etiology,imaging examination and prognosis of fetal hyperechogenic kidneys,so as to establish an accurate prenatal etiological diagnosis,and provide patients with comprehensive genetic counseling,prognostic analysis,risk assessment and postnatal medical guidance.Methods:A retrospective analysis was made of 62 cases of singleton pregnancy with the diagnosis of fetal hyper echogenic kidneys by ultrasound who received invasive prenatal diagnosis in Prenatal Diagnostic Center,Guangdong Women and Children Hospital from January 2015 to December 2021.There were 14 cases in the isolated fetal hyper echogenic kidney group and 48 cases in the non-isolated fetal hyper echogenic kidney group.Results of prenatal diagnosis and pregnancy outcomes were analyzed.Those newborns or children were followed up until June,2022.Results:Among 62 cases of fetal hyper echogenic kidneys,3 cases of pathogenic chromosomal abnormality were found in the isolated group(21.4%,3/14),and 17 cases of pathogenic chromosomal abnormality were found in the non-isolated group(35.4%,17/48).There was no significant difference in chromosome abnormality rate between the two groups(χ^(2)=0.971,P=0.325).Of the cases with normal chromosomes,14 cases underwent Trio-WES,of which 4 cases(28.6%,4/14)detected pathogenic variations.Of the 20 fetuses with chromosome or genetic abnormalities,18 fetuses were induced,and 2 fetuses with 17q12 microdeletion syndrome were retained.In the isolated group,among the 11 cases with normal results of prenatal diagnosis,1 case refused to followup,and the remaining 10 cases had a good prognosis(71.4%,10/14).In the non-isolated group,27 cases had normal results in prenatal diagnosis,1 case had spontaneous abortion,9 cases were induced due to abnormal ultrasound features,1 case died during neonatal period,1 case refused to follow up,and the prognosis of the remaining 15 cases(31.25%,15/48)was good.The prognosis of isolated renal echo-enhancement group was sig

关 键 词：胎儿肾脏实质回声增强 产前诊断 染色体异常 基因变异 

分 类 号：R714.5[医药卫生—妇产科学]