肾缺如胎儿的遗传学病因及妊娠结局分析  

Genetic etiology and pregnancy outcome of fetus with renal agenesis

作　　者：陈菲[1] 袁婷婷 陈敏[1] 谢亦农[1] 李南[1] 翦薇[1] 刘予 李志华[1] CHEN Fei;YUAN Tingting;CHEN Min;XIE Yinong;LI Nan;JIAN Wei;LIU Yu;LI Zhihua(Department of Gynecology and Obstetrics,The Third Affiliated Hospital of Guangzhou Medical University,Guangdong Provincial Key Laboratory of Major Obstetric Diseases,Guangdong Provincial Key Laboratory of Reproduction and Genetics of Colleges and Universities,Guangdong Guangzhou 510150;Departmentof Gynecology and Obstetrics,Nanyang Municipal Central Hospital,Henan Nanyang 473005,China)

机构地区：[1]广州医科大学附属第三医院妇产科,广东省产科重大疾病重点实验室,广东省普通高校生殖与遗传重点实验室,广东广州510150 [2]南阳市中心医院妇产科,河南南阳473005

出　　处：《中国妇幼健康研究》2022年第12期86-89,共4页Chinese Journal of Woman and Child Health Research

基　　金：广东省自然科学基金(2018A0303130298)。

摘　　要：目的探讨肾缺如胎儿的遗传学病因、影像学诊断及相关预后。方法选取我院2014年1月至2020年6月产前超声诊断为肾缺如的141例胎儿,并分析行侵入性产前诊断的32例病例的遗传学检测结果,同时追踪所有病例的预后。结果141例肾缺如病例中,98例为单发,43例合并其他系统异常。对29例肾缺如胎儿进行染色体微阵列分析(CMA),结果提示2例为非整倍体,3例含有致病性染色体拷贝数变异(CNVs),2例为临床意义不明CNVs。3例双肾缺如胎儿因合并多发畸形行全外显子组测序(WES)检测,结果显示均存在基因变异,其中1例为致病变异,1例存在可能致病变异,1例为不确定意义变异。对所有病例进行追踪随访,自然分娩或剖宫产65例,人工终止妊娠65例,胎死宫内3例,产后死亡1例,失访7例。出生的65例病例中,2例患者出生后复查超声提示为异位肾,18例复查超声同产前,余45例出生后未行泌尿系统相关检查但出生后生长发育均正常。无遗传学异常的孤立性单侧肾缺如胎儿预后不良率为4.41%。结论孤立性单侧肾缺如胎儿不良妊娠率较低,预后较好,产后一般可正常生活。Objective To investigate genetic etiology,imaging diagnosis and prognosis of fetus with renal agenesis.Methods 141 fetuses with renal agenesis who were diagnosed by prenatal ultrasonography in our hospital from January 2014 to June 2020 were selected,and genetic test results of 32 cases with invasive prenatal diagnosis were analyzed,and prognosis of all cases was tracked.Results Among 141 cases of renal agenesis,98 cases were single renal agenesis abnormality and 43 cases were complicated with other systemic abnormalities.The results of chromosomal microarray analysis(CMA)of 29 fetuses with renal agenesis showed that 2 cases were aneuploids,3 cases contained pathogenic chromosome copy number variations(CNVs),and 2 cases were CNVs of unknown clinical significance.Three fetuses with double kidney agenesis were detected by whole exome sequencing(WES)because of multiple malformations.The results showed that there were genetic variations,including 1 pathogenic variation,1 possible pathogenic variation and 1 uncertain significance variation.All cases were followed up.There were 65 cases of spontaneous labor or cesarean section,65 cases of artificial termination of pregnancy,3 cases of intrauterine fetal death,1 case of postpartum death and 7 cases of lost follow-up.Among the 65 cases of birth,2 cases were diagnosed as ectopic kidney by ultrasonography after birth,18 cases were diagnosed as same results of prenatal ultrasonography,and the remaining 45 cases were not examined for urinary system after birth,but their growth and development were normal.The poor prognosis rate of fetus with isolated unilateral absence of kidney without genetic abnormality was 4.41%.Conclusion The incidence rate of adverse pregnancy outcome of fetus with isolated unilateral renal agenesis is low,the prognosis is good,and their postpartum life is normal.

关 键 词：产前超声 肾缺如 染色体微阵列分析 全外显子组测序 预后 

分 类 号：R174.6[医药卫生—妇幼卫生保健]