多囊性肾脏发育不良胎儿的遗传学检测及妊娠结局分析  

Genetic Testing and Pregnancy Outcome Analysis of Fetuses with Polycystic Renal Dysplasia

作　　者：陈菲[1] 袁婷婷 陈敏[1] 谢亦农[1] 李南[1] 翦薇[1] 刘予 张慧敏[1] 何文智[1] 李志华[1] CHEN Fei;YUAN Tingting;CHEN Min(Department of Obstetrics and Gynecology,Department of Fetal Medicine and Prenatal Diagnosis,Key Laboratory for Major Obstetric Diseases of Guangdong Province,The Third Affiliated Hospital of Guangzhou Medical University,Guangzhou Guangdong 510150,China;Department of Gynecology,Nanyang Central Hospital,Nanyang Henan 473005,China)

机构地区：[1]广州医科大学附属第三医院妇产科,产前诊断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]南阳市中心医院妇科,河南南阳473005

出　　处：《实用妇产科杂志》2022年第8期616-620,共5页Journal of Practical Obstetrics and Gynecology

摘　　要：目的:探讨多囊性肾脏发育不良(MCDK)胎儿的遗传学病因、影像学诊断及相关预后。方法:分析我院2014年1月至2020年6月产前超声诊断为MCDK的214例胎儿,并分析其中进行侵入性产前诊断的77例病例的遗传学检测结果,同时追踪所有病例的预后。结果:①产前超声结果:214例囊性肾脏发育不良病例中,171例(79.9%)为单纯泌尿系统异常,43例(20.1%)合并其他系统异常。②遗传学检测结果:73例行染色体微阵列分析(CMA)检测的结果提示,1例(1.4%)为非整倍体,为21-三体综合征;9例(12.3%)存在CNV,其中8例(11.0%)含有致病性CNVs, 1例(1.4%)为临床意义不明染色体拷贝数变异(CNV)。7例行全外显子组测序(WES)检测(其中3例同时行CMA检查,结果提示未见异常)的结果提示,5例(71.4%)正常,1例(14.3%)存在可能致病变异,1例(14.3%)为不确定意义变异。③妊娠结局:失访21例(9.8%),人工终止妊娠83例(38.8%),胎死宫内1例(0.5%),产后死亡3例(1.4%),活产109例(50.9%)。出生的109例患儿中,102例为单纯泌尿系统异常,3例出生后死亡,41例患儿出生后出现患肾发育不良逐渐萎缩甚至消失。7例合并其他系统异常,患儿出生后均出现患肾发育不良逐渐萎缩甚至消失。结论:MCDK胎儿行CMA及WES可提高遗传学检出率,单侧MCDK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 the genetic etiology, ultrasonic examination and prognosis of polycystic renal dysplasia.Methods:214 fetuses with polycystic renal dysplasia diagnosed by prenatal ultrasound in our hospital from January 2014 to June 2020 were analyzed, the genetic test results of 77 cases with interventional prenatal diagnosis were collected and analyzed, and the prognosis of all cases was tracked.Results:①Prenatal ultrasound results: among 214 cases of cystic renal dysplasia, 171 cases(79.9%)were simple urinary system abnormalities and 43 cases(20.1%)were complicated with other system abnormalities.②Genetic test results: 73 fetal samples were tested for CMA.The results showed that 1 case(1.4%)of trisomy 21 syndrome, 8 cases contained pathogenic CNVs and 1 case was CNVs of unknown clinical significance.7 fetal samples of polycystic renal dysplasia were tested by WES,of which 1 case was likely to be pathogenic and 1 case was of unclear clinical significance.③Pregnancy outcome: 214 children with MCDK were followed up, including 21 cases(9.8%)of loss of follow-up, 83 cases(38.8%)of artificial termination of pregnancy, 1 case(0.5%)of intrauterine fetal death, 3 cases(1.4%)of postpartum death, and 109 cases(50.9%)of natural delivery or cesarean section.Among the 109 cases born, 102 cases were simple urinary system abnormalities, 3 cases died after birth, and 41 patients had renal dysplasia after birth, which gradually atrophied or even disappeared.In 7 cases with other system abnormalities, renal dysplasia occurred after birth, gradually atrophied or even disappeared.Conclusions:CMA and WES can improve the genetic detection rate of fetus with polycystic renal dysplasia.The adverse pregnancy rate of fetus with unilateral polycystic renal dysplasia is low, the prognosis is good, and the postpartum life is generally normal.

关 键 词：产前超声 多囊性肾脏发育不良 染色体微阵列分析 全外显子测序 预后 

分 类 号：R715.5[医药卫生—妇产科学]